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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33671

FusionGeneSummary for SH3KBP1_SH3KBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3KBP1_SH3KBP1
Fusion gene ID: 33671
HgeneTgene
Gene symbol

SH3KBP1

SH3KBP1

Gene ID

30011

30011

Gene nameSH3 domain containing kinase binding protein 1SH3 domain containing kinase binding protein 1
SynonymsCD2BP3|CIN85|GIG10|HSB-1|HSB1|MIG18CD2BP3|CIN85|GIG10|HSB-1|HSB1|MIG18
Cytomap

Xp22.12

Xp22.12

Type of geneprotein-codingprotein-coding
DescriptionSH3 domain-containing kinase-binding protein 1CD2-binding protein 3SH3-domain kinase binding protein 1Src family kinase-binding protein 1c-Cbl-interacting proteincbl-interacting protein of 85 kDahuman Src family kinase-binding protein 1migration-inSH3 domain-containing kinase-binding protein 1CD2-binding protein 3SH3-domain kinase binding protein 1Src family kinase-binding protein 1c-Cbl-interacting proteincbl-interacting protein of 85 kDahuman Src family kinase-binding protein 1migration-in
Modification date2018052220180522
UniProtAcc

Q96B97

Q96B97

Ensembl transtripts involved in fusion geneENST00000397821, ENST00000379716, 
ENST00000379698, ENST00000541422, 
ENST00000379697, ENST00000477102, 
ENST00000397821, ENST00000379716, 
ENST00000379698, ENST00000541422, 
ENST00000379697, ENST00000477102, 
Fusion gene scores* DoF score8 X 7 X 4=2246 X 7 X 3=126
# samples 87
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SH3KBP1 [Title/Abstract] AND SH3KBP1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF810476SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000397821ENST00000397821SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000397821ENST00000379716SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000397821ENST00000379698SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000397821ENST00000541422SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000397821ENST00000379697SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000397821ENST00000477102SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-3CDSENST00000379716ENST00000397821SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000379716ENST00000379716SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000379716ENST00000379698SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000379716ENST00000541422SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000379716ENST00000379697SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000379716ENST00000477102SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
In-frameENST00000379698ENST00000397821SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379698ENST00000379716SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379698ENST00000379698SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379698ENST00000541422SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379698ENST00000379697SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379698ENST00000477102SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-3CDSENST00000541422ENST00000397821SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000541422ENST00000379716SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000541422ENST00000379698SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000541422ENST00000541422SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000541422ENST00000379697SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000541422ENST00000477102SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
In-frameENST00000379697ENST00000397821SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379697ENST00000379716SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379697ENST00000379698SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379697ENST00000541422SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379697ENST00000379697SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
5CDS-intronENST00000379697ENST00000477102SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-3CDSENST00000477102ENST00000397821SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000477102ENST00000379716SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000477102ENST00000379698SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000477102ENST00000541422SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000477102ENST00000379697SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-
intron-intronENST00000477102ENST00000477102SH3KBP1chrX

19701938

-SH3KBP1chrX

19713861

-

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FusionProtFeatures for SH3KBP1_SH3KBP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH3KBP1

Q96B97

SH3KBP1

Q96B97

Adapter protein involved in regulating diverse signaltransduction pathways. Involved in the regulation of endocytosisand lysosomal degradation of ligand-induced receptor tyrosinekinases, including EGFR and MET/hepatocyte growth factor receptor,through an association with CBL and endophilins. The associationwith CBL, and thus the receptor internalization, may inhibited byan interaction with PDCD6IP and/or SPRY2. Involved in regulationof ligand-dependent endocytosis of the IgE receptor. Attenuatesphosphatidylinositol 3-kinase activity by interaction with itsregulatory subunit (By similarity). May be involved in regulationof cell adhesion; promotes the interaction between TTK2B andPDCD6IP. May be involved in the regulation of cellular stressresponse via the MAPK pathways through its interaction withMAP3K4. Is involved in modulation of tumor necrosis factormediated apoptosis. Plays a role in the regulation of cellmorphology and cytoskeletal organization. Required in the controlof cell shape and migration. {ECO:0000250,ECO:0000269|PubMed:11894095, ECO:0000269|PubMed:11894096,ECO:0000269|PubMed:12177062, ECO:0000269|PubMed:12734385,ECO:0000269|PubMed:12771190, ECO:0000269|PubMed:15090612,ECO:0000269|PubMed:15707590, ECO:0000269|PubMed:16177060,ECO:0000269|PubMed:16256071, ECO:0000269|PubMed:21834987}. Adapter protein involved in regulating diverse signaltransduction pathways. Involved in the regulation of endocytosisand lysosomal degradation of ligand-induced receptor tyrosinekinases, including EGFR and MET/hepatocyte growth factor receptor,through an association with CBL and endophilins. The associationwith CBL, and thus the receptor internalization, may inhibited byan interaction with PDCD6IP and/or SPRY2. Involved in regulationof ligand-dependent endocytosis of the IgE receptor. Attenuatesphosphatidylinositol 3-kinase activity by interaction with itsregulatory subunit (By similarity). May be involved in regulationof cell adhesion; promotes the interaction between TTK2B andPDCD6IP. May be involved in the regulation of cellular stressresponse via the MAPK pathways through its interaction withMAP3K4. Is involved in modulation of tumor necrosis factormediated apoptosis. Plays a role in the regulation of cellmorphology and cytoskeletal organization. Required in the controlof cell shape and migration. {ECO:0000250,ECO:0000269|PubMed:11894095, ECO:0000269|PubMed:11894096,ECO:0000269|PubMed:12177062, ECO:0000269|PubMed:12734385,ECO:0000269|PubMed:12771190, ECO:0000269|PubMed:15090612,ECO:0000269|PubMed:15707590, ECO:0000269|PubMed:16177060,ECO:0000269|PubMed:16256071, ECO:0000269|PubMed:21834987}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-5171_58205629DomainSH3 1
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-51798_157205629DomainSH3 2
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-6181_58242666DomainSH3 1
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-61898_157242666DomainSH3 2
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-217602_66493629Coiled coilOntology_term=ECO:0000255
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-013602_664-42428Coiled coilOntology_term=ECO:0000255
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-318602_664130666Coiled coilOntology_term=ECO:0000255
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-217327_42893629Compositional biasNote=Pro-rich
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-013327_428-42428Compositional biasNote=Pro-rich
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-318327_428130666Compositional biasNote=Pro-rich
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-217267_32893629DomainSH3 3
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-21798_15793629DomainSH3 2
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-0131_58-42428DomainSH3 1
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-013267_328-42428DomainSH3 3
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-01398_157-42428DomainSH3 2
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-318267_328130666DomainSH3 3

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-517602_664205629Coiled coilOntology_term=ECO:0000255
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-113602_664-42428Coiled coilOntology_term=ECO:0000255
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-618602_664242666Coiled coilOntology_term=ECO:0000255
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-517327_428205629Compositional biasNote=Pro-rich
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-113327_428-42428Compositional biasNote=Pro-rich
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-618327_428242666Compositional biasNote=Pro-rich
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-517267_328205629DomainSH3 3
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-1131_58-42428DomainSH3 1
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-113267_328-42428DomainSH3 3
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379716-11398_157-42428DomainSH3 2
HgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-618267_328242666DomainSH3 3
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000379698-2171_5893629DomainSH3 1
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-3181_58130666DomainSH3 1
TgeneSH3KBP1chrX:19701938chrX:19713861ENST00000397821-31898_157130666DomainSH3 2


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FusionGeneSequence for SH3KBP1_SH3KBP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SH3KBP1_SH3KBP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SH3KBP1SH3GL3, ARHGAP27, PAK2, TJP2, TAF6, SYNJ1, CD2, BLNK, CRK, BCAR1, CBL, SOS1, SH3KBP1, SH3GLB1, SH3GLB2, MET, PDCD6, EGFR, SH3GL2, PIK3R1, GRB2, CBLB, PDGFRB, KIT, SHKBP1, UBC, PAK1, MAP3K4, PDCD6IP, HGS, ARAP1, MVB12A, NPHS1, NPHS2, CD2AP, ZNF219, SPRY2, SPRY1, ITSN2, ELAVL1, MYC, KHDRBS1, DNM2, ZFP36, SH3PXD2B, PHLDB1, PLEKHA5, ANLN, SH3BP2, RAPH1, PHLDB2, ARHGAP17, ASAP1, RACGAP1, SYDE1, RASAL2, DNM1, MICALL1, WASL, GAS2L1, WIPF1, LIMCH1, WIPF2, SYNPO, KIF23, MAP4, MAP7, PRC1, MAP7D3, TUBGCP3, TUBGCP2, TUBGCP4, SEPT9, SEPT2, SEPT11, SEPT6, SEPT10, SEPT7, SEPT8, CKAP4, CDC27, VPS37B, ERC1, ANAPC7, KCTD3, CDC23, SH3D19, ANAPC4, LRRC16A, PALMD, SLAIN2, KIAA1522, ANAPC5, LEMD2, DAG1, PRRC2A, KATNB1, PSRC1, KCTD10, DAB2, POM121, PKP3, FAM83G, WTAP, CDC16, SRGAP1, ATXN2, SHCBP1, SRRM2, HNRNPK, PABPC4, PABPC1, HNRNPC, SRSF7, RNF34, SRRM1, MCM5, PHACTR4, RPA1, CASKIN2, SAMD1, PPFIBP1, PSIP1, ELMSAN1, KLF13, CIZ1, INPPL1, SYNJ2, ABL1, CSNK1A1, RPS6KA4, CDK16, IRF2BP2, IRF2BP1, DNMT1, DDX17, KATNA1, ATP5A1, ATAD3A, DDX28, GTSE1, SERPINH1, ITSN1, DAB1, HRAS, TRA, ACTC1, DDN, SRC, LCK, LYN, FGR, FYN, HCK, TRADD, BIRC2, TRAF1, TRAF2, TNFRSF1A, HIP1R, ARAP3, MAP9, CYGB, INPP5D, ARHGEF1, CLTC, PTK2, PTK2B, FBXO25, RAB5A, CTSB, FAP, LOX, RAF1, FRS3, PSMA3, ASAP2, STAP1, ZBTB7B, PNMA5, ENO1, MOV10, NXF1, UBE2I, CAPZA2, CAPZB, NPLOC4, CDA, CSTF2, IMPDH1, IMPDH2, SEC24C, SEC24D, TSG101, UFD1L, TTC38, RPGRIP1L, TGFBR1, TGFBR2, RAB11A, CDH1, RTKN2, MDC1, SH3BP1, TCP10L, MRPL12, USP27X, TP63, ARHGAP44, FBXO28, CAPZA1, MPP5, ZNF764, CHMP5, KLC2SH3KBP1SH3GL3, ARHGAP27, PAK2, TJP2, TAF6, SYNJ1, CD2, BLNK, CRK, BCAR1, CBL, SOS1, SH3KBP1, SH3GLB1, SH3GLB2, MET, PDCD6, EGFR, SH3GL2, PIK3R1, GRB2, CBLB, PDGFRB, KIT, SHKBP1, UBC, PAK1, MAP3K4, PDCD6IP, HGS, ARAP1, MVB12A, NPHS1, NPHS2, CD2AP, ZNF219, SPRY2, SPRY1, ITSN2, ELAVL1, MYC, KHDRBS1, DNM2, ZFP36, SH3PXD2B, PHLDB1, PLEKHA5, ANLN, SH3BP2, RAPH1, PHLDB2, ARHGAP17, ASAP1, RACGAP1, SYDE1, RASAL2, DNM1, MICALL1, WASL, GAS2L1, WIPF1, LIMCH1, WIPF2, SYNPO, KIF23, MAP4, MAP7, PRC1, MAP7D3, TUBGCP3, TUBGCP2, TUBGCP4, SEPT9, SEPT2, SEPT11, SEPT6, SEPT10, SEPT7, SEPT8, CKAP4, CDC27, VPS37B, ERC1, ANAPC7, KCTD3, CDC23, SH3D19, ANAPC4, LRRC16A, PALMD, SLAIN2, KIAA1522, ANAPC5, LEMD2, DAG1, PRRC2A, KATNB1, PSRC1, KCTD10, DAB2, POM121, PKP3, FAM83G, WTAP, CDC16, SRGAP1, ATXN2, SHCBP1, SRRM2, HNRNPK, PABPC4, PABPC1, HNRNPC, SRSF7, RNF34, SRRM1, MCM5, PHACTR4, RPA1, CASKIN2, SAMD1, PPFIBP1, PSIP1, ELMSAN1, KLF13, CIZ1, INPPL1, SYNJ2, ABL1, CSNK1A1, RPS6KA4, CDK16, IRF2BP2, IRF2BP1, DNMT1, DDX17, KATNA1, ATP5A1, ATAD3A, DDX28, GTSE1, SERPINH1, ITSN1, DAB1, HRAS, TRA, ACTC1, DDN, SRC, LCK, LYN, FGR, FYN, HCK, TRADD, BIRC2, TRAF1, TRAF2, TNFRSF1A, HIP1R, ARAP3, MAP9, CYGB, INPP5D, ARHGEF1, CLTC, PTK2, PTK2B, FBXO25, RAB5A, CTSB, FAP, LOX, RAF1, FRS3, PSMA3, ASAP2, STAP1, ZBTB7B, PNMA5, ENO1, MOV10, NXF1, UBE2I, CAPZA2, CAPZB, NPLOC4, CDA, CSTF2, IMPDH1, IMPDH2, SEC24C, SEC24D, TSG101, UFD1L, TTC38, RPGRIP1L, TGFBR1, TGFBR2, RAB11A, CDH1, RTKN2, MDC1, SH3BP1, TCP10L, MRPL12, USP27X, TP63, ARHGAP44, FBXO28, CAPZA1, MPP5, ZNF764, CHMP5, KLC2


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SH3KBP1_SH3KBP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SH3KBP1_SH3KBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSH3KBP1C0009375Colonic Neoplasms1CTD_human
TgeneSH3KBP1C0009375Colonic Neoplasms1CTD_human