• Gene id: 25

Gene Summary

• Gene Symbol: ABL1   Gene   UCSC   Ensembl
• Aliases: ABL, BCR-ABL, CHDSKM, JTK7, bcr/abl, c-ABL, c-ABL1, p150, v-abl
• Gene name: ABL proto-oncogene 1, non-receptor tyrosine kinase
• Alternate names: tyrosine-protein kinase ABL1, ABL protooncogene 1 nonreceptor tyrosine kinase, Abelson tyrosine-protein kinase 1, bcr/c-abl oncogene protein, c-abl oncogene 1, receptor tyrosine kinase, proto-oncogene c-Abl, proto-oncogene tyrosine-protein kinase ABL1, truncated,
• Gene location: 9q34.12 (130713880: 130887674)     Exons: 12     NC_000009.12
• Gene summary(Entrez): This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 dom
• OMIM: 0

SNPs

rs1131692251

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357615T>G
NC_000003.11   g.52391631T>G
NG_052911.1   g.46297T>G
NM_015512.5   c.3860T>G
NM_015512.4   c.3860T>G
XR_001740098.1   n.7009T>G
XM_017006129.1   c.3860T>G
XM_017006130.1   c.3860T>G
XM_017006131.1   c.3860T>G
XR_001740099.1   n.7009T>G
XM_0  

rs1131692250

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52386159G>A
NC_000003.12   g.52386159G>C
NC_000003.11   g.52420175G>A
NC_000003.11   g.52420175G>C
NG_052911.1   g.74841G>A
NG_052911.1   g.74841G>C|SEQ=[G/A/C]|GENE=DNAH1

rs1131692234

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52397706G>A
NC_000003.11   g.52431722G>A
NG_052911.1   g.86388G>A|SEQ=[G/A]|GENE=DNAH1

rs886039769

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500686G>A
NC_000009.11   g.127262965G>A
NG_008176.1   g.11735C>T
NM_004959.5   c.274C>T
NM_004959.4   c.274C>T
NP_004950.2   p.Arg92Trp|SEQ=[G/A]|GENE=NR5A1

rs779490893

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000003.12   g.52396983_52396984del
NC_000003.11   g.52430999_52431000del
NG_052911.1   g.85665_85666del
NM_015512.5   c.11726_11727del
NM_015512.4   c.11726_11727del
XR_001740098.1   n.14944_14945del
XM_017006129.1   c.11795_11796del
XM_017006130.1   c.11726_1172

rs587777432

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000017.11   g.4744210_4744213AACA[1]
NC_000017.10   g.4647505_4647508AACA[1]
NG_034160.1   g.9196_9199AACA[1]
NM_001136046.3   c.1516_1519AACA[1]
NM_001136046.2   c.1516_1519AACA[1]
NM_032265.2   c.1399_1402AACA[1]
NM_001267822.1   c.1516_1519AACA[1]
XM_0170252  

rs387906690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500568G>A
NC_000009.11   g.127262847G>A
NG_008176.1   g.11853C>T
NM_004959.5   c.392C>T
NM_004959.4   c.392C>T
NP_004950.2   p.Pro131Leu|SEQ=[G/A]|GENE=NR5A1

rs201095702

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500326C>T
NC_000009.11   g.127262605C>T
NG_008176.1   g.12095G>A
NM_004959.5   c.634G>A
NM_004959.4   c.634G>A
NP_004950.2   p.Gly212Ser|SEQ=[C/T]|GENE=NR5A1

rs200163795

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500592C>G
NC_000009.12   g.124500592C>T
NC_000009.11   g.127262871C>G
NC_000009.11   g.127262871C>T
NG_008176.1   g.11829G>C
NG_008176.1   g.11829G>A
NM_004959.5   c.368G>C
NM_004959.5   c.368G>A
NM_004959.4   c.368G>C
NM_004959.4   c.368G>A
NP_00495  

rs140883175

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.52357632G>A
NC_000003.12   g.52357632G>C
NC_000003.11   g.52391648G>A
NC_000003.11   g.52391648G>C
NG_052911.1   g.46314G>A
NG_052911.1   g.46314G>C
NM_015512.5   c.3877G>A
NM_015512.5   c.3877G>C
NM_015512.4   c.3877G>A
NM_015512.4   c.3877G>C
XR_00174  

rs11144790

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.76197556G>A
NC_000009.11   g.78812472G>A
NG_029445.1   g.311913G>A|SEQ=[G/A]|GENE=PCSK5

rs4474514

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88560182G>A
NC_000012.12   g.88560182G>C
NC_000012.12   g.88560182G>T
NC_000012.11   g.88953959G>A
NC_000012.11   g.88953959G>C
NC_000012.11   g.88953959G>T
NG_012098.2   g.25280C>T
NG_012098.2   g.25280C>G
NG_012098.2   g.25280C>A
NG_012098.1   g.25280

rs2284922

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37381257G>A
NC_000006.11   g.37349033G>A
NM_003958.4   c.1344G>A
NM_003958.3   c.1344G>A
XM_006715241.3   c.1254G>A
XR_001743734.2   n.1641G>A
XR_001743731.2   n.1558G>A
NR_046399.1   n.1643G>A
NR_046399.2   n.1632G>A
XM_017011462.1   c.1173G>A|SEQ=[G/A

rs2274911

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.116809541G>A
NC_000006.12   g.116809541G>C
NC_000006.11   g.117130704G>A
NC_000006.11   g.117130704G>C
NM_148963.3   c.271C>T
NM_148963.3   c.271C>G
NM_148963.4   c.271C>T
NM_148963.4   c.271C>G
NM_148963.2   c.271C>T
NM_148963.2   c.271C>G
XM_017010475  

rs1508595

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88592239G>A
NC_000012.12   g.88592239G>T
NC_000012.11   g.88986016G>A
NC_000012.11   g.88986016G>T|SEQ=[G/A/T]

rs1352947

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88566950C>G
NC_000012.12   g.88566950C>T
NC_000012.11   g.88960727C>G
NC_000012.11   g.88960727C>T
NG_012098.2   g.18512G>C
NG_012098.2   g.18512G>A
NG_012098.1   g.18512G>C
NG_012098.1   g.18512G>A|SEQ=[C/G/T]|GENE=KITLG

rs1110061

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500523C>A
NC_000009.12   g.124500523C>G
NC_000009.11   g.127262802C>A
NC_000009.11   g.127262802C>G
NG_008176.1   g.11898G>T
NG_008176.1   g.11898G>C
NM_004959.5   c.437G>T
NM_004959.5   c.437G>C
NM_004959.4   c.437G>T
NM_004959.4   c.437G>C
NP_00495  

rs195434

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37392781T>C
NC_000006.11   g.37360557T>C
NM_003958.4   c.*2023T>C
NM_003958.3   c.*2023T>C
NM_183078.2   c.*1929T>C
NM_183078.3   c.*1929T>C
NR_046399.1   n.3780T>C
NR_046399.2   n.3769T>C|SEQ=[T/C]|GENE=RNF8

rs195432

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37390246A>C
NC_000006.12   g.37390246A>G
NC_000006.12   g.37390246A>T
NC_000006.11   g.37358022A>C
NC_000006.11   g.37358022A>G
NC_000006.11   g.37358022A>T|SEQ=[A/C/G/T]|GENE=RNF8

rs104669

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.37386283A>T
NC_000006.11   g.37354059A>T|SEQ=[A/T]|GENE=RNF8

rs750682280

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500658C>T
NC_000009.11   g.127262937C>T
NG_008176.1   g.11763G>A
NM_004959.5   c.302G>A
NM_004959.4   c.302G>A
NP_004950.2   p.Arg101Gln|SEQ=[C/T]|GENE=NR5A1

rs995030

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88496894A>G
NC_000012.11   g.88890671A>G
NG_012098.2   g.88568T>C
NG_012098.1   g.88568T>C
NM_000899.5   c.*325T>C
NM_000899.4   c.*325T>C
NM_003994.5   c.*325T>C|SEQ=[A/G]|GENE=KITLG

rs4758680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.122170805T>A
NC_000012.12   g.122170805T>G
NC_000012.11   g.122655352T>A
NC_000012.11   g.122655352T>G|SEQ=[T/A/G]|GENE=LRRC43

rs2267437

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.41620695C>A
NC_000022.11   g.41620695C>G
NC_000022.10   g.42016699C>A
NC_000022.10   g.42016699C>G|SEQ=[C/A/G]|GENE=XRCC6
DESI1   27351

rs10506957

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.88573230C>A
NC_000012.12   g.88573230C>T
NC_000012.11   g.88967007C>A
NC_000012.11   g.88967007C>T
NG_012098.2   g.12232G>T
NG_012098.2   g.12232G>A
NG_012098.1   g.12232G>T
NG_012098.1   g.12232G>A|SEQ=[C/A/T]|GENE=KITLG

rs1042838

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.101062681C>A
NC_000011.10   g.101062681C>G
NC_000011.9   g.100933412C>A
NC_000011.9   g.100933412C>G
NG_016475.1   g.72133G>T
NG_016475.1   g.72133G>C
NM_000926.4   c.1978G>T
NM_000926.4   c.1978G>C
NM_001202474.3   c.1486G>T
NM_001202474.3   c.1486G>C
  

rs761237686

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000001.11   g.244605785_244605790del
NC_000001.10   g.244769087_244769092del
NG_029082.1   g.149415_149420del
NM_173807.5   c.2394_2399del
NM_173807.4   c.2394_2399del
NM_001130957.2   c.2394_2399del
NM_001130957.1   c.2394_2399del
NM_001242340.1   c.1941_1946del

rs200749741

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500574G>A
NC_000009.11   g.127262853G>A
NG_008176.1   g.11847C>T
NM_004959.5   c.386C>T
NM_004959.4   c.386C>T
NP_004950.2   p.Pro129Leu|SEQ=[G/A]|GENE=NR5A1

rs143355429

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124500173C>T
NC_000009.11   g.127262452C>T
NG_008176.1   g.12248G>A
NM_004959.5   c.787G>A
NM_004959.4   c.787G>A
NP_004950.2   p.Gly263Ser|SEQ=[C/T]|GENE=NR5A1

rs759071081

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.124491167G>A
NC_000009.11   g.127253446G>A
NG_008176.1   g.21254C>T
NM_004959.5   c.1052C>T
NM_004959.4   c.1052C>T
NP_004950.2   p.Ala351Val|SEQ=[G/A]|GENE=NR5A1

Protein Summary

• Protein general information: P00519  
  • Name: Tyrosine protein kinase ABL1 (EC 2.7.10.2) (Abelson murine leukemia viral oncogene homolog 1) (Abelson tyrosine protein kinase 1) (Proto oncogene c Abl) (p150)
  • Length: 1130  
  • Mass: 122873
  • Tissue specificity: Widely expressed.
• Sequence:

  MLEICLKLVGCKSKKGLSSSSSCYLEEALQRPVASDFEPQGLSEAARWNSKENLLAGPSENDPNLFVALYDFVAS
  GDNTLSITKGEKLRVLGYNHNGEWCEAQTKNGQGWVPSNYITPVNSLEKHSWYHGPVSRNAAEYLLSSGINGSFL
  VRESESSPGQRSISLRYEGRVYHYRINTASDGKLYVSSESRFNTLAELVHHHSTVADGLITTLHYPAPKRNKPTV
  YGVSPNYDKWEMERTDITMKHKLGGGQYGEVYEGVWKKYSLTVAVKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQ
  LLGVCTREPPFYIITEFMTYGNLLDYLRECNRQEVNAVVLLYMATQISSAMEYLEKKNFIHRDLAARNCLVGENH
  LVKVADFGLSRLMTGDTYTAHAGAKFPIKWTAPESLAYNKFSIKSDVWAFGVLLWEIATYGMSPYPGIDLSQVYE
  LLEKDYRMERPEGCPEKVYELMRACWQWNPSDRPSFAEIHQAFETMFQESSISDEVEKELGKQGVRGAVSTLLQA
  PELPTKTRTSRRAAEHRDTTDVPEMPHSKGQGESDPLDHEPAVSPLLPRKERGPPEGGLNEDERLLPKDKKTNLF
  SALIKKKKKTAPTPPKRSSSFREMDGQPERRGAGEEEGRDISNGALAFTPLDTADPAKSPKPSNGAGVPNGALRE
  SGGSGFRSPHLWKKSSTLTSSRLATGEEEGGGSSSKRFLRSCSASCVPHGAKDTEWRSVTLPRDLQSTGRQFDSS
  TFGGHKSEKPALPRKRAGENRSDQVTRGTVTPPPRLVKKNEEAADEVFKDIMESSPGSSPPNLTPKPLRRQVTVA
  PASGLPHKEEAGKGSALGTPAAAEPVTPTSKAGSGAPGGTSKGPAEESRVRRHKHSSESPGRDKGKLSRLKPAPP
  PPPAASAGKAGGKPSQSPSQEAAGEAVLGAKTKATSLVDAVNSDAAKPSQPGEGLKKPVLPATPKPQSAKPSGTP
  ISPAPVPSTLPSASSALAGDQPSSTAFIPLISTRVSLRKTRQPPERIASGAITKGVVLDSTEALCLAISRNSEQM
  ASHSAVLEAGKNLYTFCVSYVDSIQQMRNKFAFREAINKLENNLRELQICPATAGSGPAATQDFSKLLSSVKEIS
  DIVQR

• Structural information:
  • Protein Domains: (61..12-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (127..21-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (242..49-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR033221  IPR035837  IPR015015  IPR011009  IPR000719   IPR017441  IPR001245  IPR000980  IPR036860  IPR036028  IPR001452  IPR008266  IPR020635  
  • Prosite: PS00107 PS50011 PS00109 PS50001 PS50002
  • CDD: cd09935
  • PDB: 1AB2 1ABL 1AWO 1BBZ 1JU5 1OPL 1ZZP 2ABL 2E2B 2F4J 2FO0 2G1T 2G2F 2G2H 2G2I 2GQG 2HIW 2HYY 2HZ0 2HZ4 2HZI 2O88 2V7A 3CS9 3EG0 3EG1 3EG2 3EG3 3EGU 3K2M 3PYY 3QRI 3QRJ 3QRK 3T04 3UE4 3UYO 4J9B 4J9C 4J9D 4J9E 4J9F 4J9G 4J9H 4J9I 4JJB 4JJC 4JJD 4TWP 4WA9 4XEY 4YC8 4ZOG 5DC0 5DC4 5DC9 5HU9 5MO4 5NP2 5OAZ 6AMV 6AMW 6BL8 6NP
  • PDBsum: 1AB2 1ABL 1AWO 1BBZ 1JU5 1OPL 1ZZP 2ABL 2E2B 2F4J 2FO0 2G1T 2G2F 2G2H 2G2I 2GQG 2HIW 2HYY 2HZ0 2HZ4 2HZI 2O88 2V7A 3CS9 3EG0 3EG1 3EG2 3EG3 3EGU 3K2M 3PYY 3QRI 3QRJ 3QRK 3T04 3UE4 3UYO 4J9B 4J9C 4J9D 4J9E 4J9F 4J9G 4J9H 4J9I 4JJB 4JJC 4JJD 4TWP 4WA9 4XEY 4YC8 4ZOG 5DC0 5DC4 5DC9 5HU9 5MO4 5NP2 5OAZ 6AMV 6AMW 6BL8 6NP
  • DIP: 1042
  • STRING: ENSP00000361423
• Other Databases: GeneCards:  ABL1  Malacards:  ABL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097100	supercoiled DNA binding	IDA	NOT|molecular function
GO:0000400	four-way junction DNA binding	IDA	molecular function
GO:1990837	sequence-specific double-stranded DNA binding	IDA	molecular function
GO:0000405	bubble DNA binding	IDA	molecular function
GO:0003713	transcription coactivator activity	TAS	molecular function
GO:0046875	ephrin receptor binding	ISS	molecular function
GO:0071103	DNA conformation change	IDA	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0098794	postsynapse	TAS	cellular component
GO:1900272	negative regulation of long-term synaptic potentiation	ISS	biological process
GO:1905244	regulation of modification of synaptic structure	ISS	biological process
GO:1905244	regulation of modification of synaptic structure	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:1990051	activation of protein kinase C activity	IDA	biological process
GO:0005080	protein kinase C binding	IPI	molecular function
GO:0007050	cell cycle arrest	TAS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0051444	negative regulation of ubiquitin-protein transferase activity	TAS	biological process
GO:0051444	negative regulation of ubiquitin-protein transferase activity	TAS	biological process
GO:0034599	cellular response to oxidative stress	TAS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	TAS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	TAS	biological process
GO:0051882	mitochondrial depolarization	TAS	biological process
GO:0000278	mitotic cell cycle	TAS	biological process
GO:0070301	cellular response to hydrogen peroxide	IDA	biological process
GO:1903351	cellular response to dopamine	TAS	biological process
GO:0005739	mitochondrion	NAS	cellular component
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:2001020	regulation of response to DNA damage stimulus	IDA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0070064	proline-rich region binding	IDA	molecular function
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0042770	signal transduction in response to DNA damage	IDA	biological process
GO:0042770	signal transduction in response to DNA damage	IDA	biological process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0045580	regulation of T cell differentiation	ISS	biological process
GO:0016301	kinase activity	IMP	molecular function
GO:2000145	regulation of cell motility	TAS	biological process
GO:0030155	regulation of cell adhesion	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0010506	regulation of autophagy	TAS	biological process
GO:0003785	actin monomer binding	TAS	molecular function
GO:2000249	regulation of actin cytoskeleton reorganization	TAS	biological process
GO:0030100	regulation of endocytosis	TAS	biological process
GO:0019905	syntaxin binding	IPI	molecular function
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	TAS	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0005634	nucleus	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004515	nicotinate-nucleotide adenylyltransferase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0006897	endocytosis	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0006914	autophagy	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0006355	regulation of transcription, DNA-templated	TAS	biological process
GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0051444	negative regulation of ubiquitin-protein transferase activity	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0004672	protein kinase activity	IDA	molecular function
GO:1900275	negative regulation of phospholipase C activity	IMP	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IMP	biological process
GO:0006979	response to oxidative stress	IGI	biological process
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0051149	positive regulation of muscle cell differentiation	TAS	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1900042	positive regulation of interleukin-2 secretion	IEA	biological process
GO:0090050	positive regulation of cell migration involved in sprouting angiogenesis	IEA	biological process
GO:0071222	cellular response to lipopolysaccharide	IEA	biological process
GO:0060563	neuroepithelial cell differentiation	IEA	biological process
GO:0060020	Bergmann glial cell differentiation	IEA	biological process
GO:0051726	regulation of cell cycle	IEA	biological process
GO:0051015	actin filament binding	IEA	molecular function
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0050853	B cell receptor signaling pathway	IEA	biological process
GO:0048538	thymus development	IEA	biological process
GO:0046875	ephrin receptor binding	IEA	molecular function
GO:0046632	alpha-beta T cell differentiation	IEA	biological process
GO:0045931	positive regulation of mitotic cell cycle	IEA	biological process
GO:0045580	regulation of T cell differentiation	IEA	biological process
GO:0043124	negative regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0033690	positive regulation of osteoblast proliferation	IEA	biological process
GO:0030145	manganese ion binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030035	microspike assembly	IEA	biological process
GO:0022408	negative regulation of cell-cell adhesion	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0009791	post-embryonic development	IEA	biological process
GO:0006909	phagocytosis	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0002333	transitional one stage B cell differentiation	IEA	biological process
GO:0000287	magnesium ion binding	IEA	molecular function
GO:2000773	negative regulation of cellular senescence	IEA	biological process
GO:2000772	regulation of cellular senescence	IEA	biological process
GO:2000352	negative regulation of endothelial cell apoptotic process	IEA	biological process
GO:2000096	positive regulation of Wnt signaling pathway, planar cell polarity pathway	IEA	biological process
GO:1905555	positive regulation blood vessel branching	IEA	biological process
GO:1905244	regulation of modification of synaptic structure	IEA	biological process
GO:1903053	regulation of extracellular matrix organization	IEA	biological process
GO:1902715	positive regulation of interferon-gamma secretion	IEA	biological process
GO:1901216	positive regulation of neuron death	IEA	biological process
GO:1900272	negative regulation of long-term synaptic potentiation	IEA	biological process
GO:0090135	actin filament branching	IEA	biological process
GO:0072358	cardiovascular system development	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0051281	positive regulation of release of sequestered calcium ion into cytosol	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0050798	activated T cell proliferation	IEA	biological process
GO:0048668	collateral sprouting	IEA	biological process
GO:0048536	spleen development	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0045930	negative regulation of mitotic cell cycle	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042100	B cell proliferation	IEA	biological process
GO:0038191	neuropilin binding	IEA	molecular function
GO:0034446	substrate adhesion-dependent cell spreading	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0031252	cell leading edge	IEA	cellular component
GO:0030514	negative regulation of BMP signaling pathway	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0021587	cerebellum morphogenesis	IEA	biological process
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0006979	response to oxidative stress	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0002322	B cell proliferation involved in immune response	IEA	biological process
GO:0001922	B-1 B cell homeostasis	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IDA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0051019	mitogen-activated protein kinase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0071901	negative regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0007229	integrin-mediated signaling pathway	IMP	biological process
GO:0032489	regulation of Cdc42 protein signal transduction	IMP	biological process
GO:0051353	positive regulation of oxidoreductase activity	IDA	biological process
GO:0038191	neuropilin binding	IPI	molecular function
GO:0004672	protein kinase activity	IMP	molecular function
GO:0006468	protein phosphorylation	IMP	biological process
GO:0043542	endothelial cell migration	IMP	biological process
GO:0010595	positive regulation of endothelial cell migration	IMP	biological process
GO:1900026	positive regulation of substrate adhesion-dependent cell spreading	IMP	biological process
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0051894	positive regulation of focal adhesion assembly	IMP	biological process
GO:0038189	neuropilin signaling pathway	IMP	biological process
GO:2000251	positive regulation of actin cytoskeleton reorganization	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0001784	phosphotyrosine residue binding	IPI	molecular function
GO:0032991	protein-containing complex	IPI	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0030145	manganese ion binding	IDA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0006975	DNA damage induced protein phosphorylation	IDA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0006464	cellular protein modification process	NAS	biological process
GO:0005634	nucleus	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	NAS	molecular function
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0070064	proline-rich region binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IMP	molecular function
GO:0038083	peptidyl-tyrosine autophosphorylation	IMP	biological process
GO:0004713	protein tyrosine kinase activity	IMP	molecular function
GO:1904531	positive regulation of actin filament binding	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0031113	regulation of microtubule polymerization	IMP	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IMP	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0035791	platelet-derived growth factor receptor-beta signaling pathway	IMP	biological process
GO:0030516	regulation of axon extension	IMP	biological process
GO:0045184	establishment of protein localization	IMP	biological process
GO:1904528	positive regulation of microtubule binding	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05206	MicroRNAs in cancer
hsa05131	Shigellosis
hsa04014	Ras signaling pathway
hsa05130	Pathogenic Escherichia coli infection
hsa04360	Axon guidance
hsa04110	Cell cycle
hsa04722	Neurotrophin signaling pathway
hsa04012	ErbB signaling pathway
hsa05220	Chronic myeloid leukemia
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
B-cell acute lymphoblastic leukemia	KEGG:H00001
Chronic myeloid leukemia	KEGG:H00004
B-cell acute lymphoblastic leukemia	KEGG:H00001
Chronic myeloid leukemia	KEGG:H00004
Parkinson's disease	PMID:20823226
chronic myeloid leukemia	PMID:21481795
chronic myeloid leukemia	PMID:3021820
chronic myeloid leukemia	PMID:23289634
chronic myeloid leukemia	PMID:12067277
chronic myeloid leukemia	PMID:25133686
acute myeloid leukemia	PMID:12161353
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq