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Fusion gene ID: 7622 |
FusionGeneSummary for CMTM7_FHIT |
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Fusion gene information | Fusion gene name: CMTM7_FHIT | Fusion gene ID: 7622 | Hgene | Tgene | Gene symbol | CMTM7 | FHIT | Gene ID | 112616 | 2272 |
Gene name | CKLF like MARVEL transmembrane domain containing 7 | fragile histidine triad | |
Synonyms | CKLFSF7 | AP3Aase|FRA3B | |
Cytomap | 3p22.3 | 3p14.2 | |
Type of gene | protein-coding | protein-coding | |
Description | CKLF-like MARVEL transmembrane domain-containing protein 7chemokine-like factor super family 7chemokine-like factor super family member 7 variant 2chemokine-like factor superfamily 7chemokine-like factor superfamily member 7 | bis(5'-adenosyl)-triphosphataseAP3A hydrolasediadenosine 5',5'''-P1,P3-triphosphate hydrolasedinucleosidetriphosphatase | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q96FZ5 | P49789 | |
Ensembl transtripts involved in fusion gene | ENST00000334983, ENST00000349718, | ENST00000476844, ENST00000492590, ENST00000466788, ENST00000468189, ENST00000341848, | |
Fusion gene scores | * DoF score | 7 X 4 X 5=140 | 17 X 7 X 10=1190 |
# samples | 7 | 20 | |
** MAII score | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(20/1190*10)=-2.57288966842058 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CMTM7 [Title/Abstract] AND FHIT [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | FHIT | GO:0006163 | purine nucleotide metabolic process | 9323207 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SKCM | TCGA-GF-A6C9-06A | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
3UTR-5UTR | ENST00000334983 | ENST00000476844 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-5UTR | ENST00000334983 | ENST00000492590 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-intron | ENST00000334983 | ENST00000466788 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-5UTR | ENST00000334983 | ENST00000468189 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-intron | ENST00000334983 | ENST00000341848 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-5UTR | ENST00000349718 | ENST00000476844 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-5UTR | ENST00000349718 | ENST00000492590 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-intron | ENST00000349718 | ENST00000466788 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-5UTR | ENST00000349718 | ENST00000468189 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
3UTR-intron | ENST00000349718 | ENST00000341848 | CMTM7 | chr3 | 32496034 | + | FHIT | chr3 | 60522712 | - |
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FusionProtFeatures for CMTM7_FHIT |
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Hgene | Tgene |
CMTM7 | FHIT |
Cleaves P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A)to yield AMP and ADP. Can also hydrolyze P(1)-P(4)-bis(5'-adenosyl) tetraphosphate (Ap4A), but has extremely low activitywith ATP. Modulates transcriptional activation by CTNNB1 andthereby contributes to regulate the expression of genes essentialfor cell proliferation and survival, such as CCND1 and BIRC5.Plays a role in the induction of apoptosis via SRC and AKT1signaling pathways. Inhibits MDM2-mediated proteasomal degradationof p53/TP53 and thereby plays a role in p53/TP53-mediatedapoptosis. Induction of apoptosis depends on the ability of FHITto bind P(1)-P(3)-bis(5'-adenosyl) triphosphate or relatedcompounds, but does not require its catalytic activity, it may inpart come from the mitochondrial form, which sensitizes the low-affinity Ca(2+) transporters, enhancing mitochondrial calciumuptake. Functions as tumor suppressor.{ECO:0000269|PubMed:12574506, ECO:0000269|PubMed:15313915,ECO:0000269|PubMed:16407838, ECO:0000269|PubMed:18077326,ECO:0000269|PubMed:19622739, ECO:0000269|PubMed:8794732,ECO:0000269|PubMed:9323207}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CMTM7_FHIT |
![]() (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 CMTM7_FHIT |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CMTM7 | LMNA | FHIT | FHIT, UBE2I, CTNNB1, LEF1, TRIM23, RAB40B, MDM2, REL, TP53, ARHGAP19, MTMR6, RABL2A, CHEK1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CMTM7_FHIT |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | FHIT | P49789 | DB04173 | Fructose | Bis(5'-adenosyl)-triphosphatase | small molecule | approved|experimental |
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RelatedDiseases for CMTM7_FHIT |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | FHIT | C0024121 | Lung Neoplasms | 2 | CTD_human |
Tgene | FHIT | C0025500 | Mesothelioma | 2 | CTD_human |
Tgene | FHIT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
Tgene | FHIT | C0023903 | Liver neoplasms | 1 | CTD_human |
Tgene | FHIT | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | FHIT | C0036341 | Schizophrenia | 1 | PSYGENET |
Tgene | FHIT | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Tgene | FHIT | C0042076 | Urologic Neoplasms | 1 | CTD_human |
Tgene | FHIT | C0236733 | Amphetamine-Related Disorders | 1 | CTD_human |
Tgene | FHIT | C0236969 | Substance-Related Disorders | 1 | CTD_human |