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Fusion gene ID: 4014 |
FusionGeneSummary for BCL2L11_AFMID |
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Fusion gene information | Fusion gene name: BCL2L11_AFMID | Fusion gene ID: 4014 | Hgene | Tgene | Gene symbol | BCL2L11 | AFMID | Gene ID | 10018 | 125061 |
Gene name | BCL2 like 11 | arylformamidase | |
Synonyms | BAM|BIM|BOD | FKF|KF|KFA | |
Cytomap | 2q13 | 17q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | bcl-2-like protein 11BCL2-like 11 (apoptosis facilitator)bcl-2 interacting mediator of cell deathbcl-2 interacting protein Bimbcl-2-related ovarian death agonist | kynurenine formamidaseKFaseN-formylkynurenine formamidaseprobable arylformamidase | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | O43521 | Q63HM1 | |
Ensembl transtripts involved in fusion gene | ENST00000337565, ENST00000393253, ENST00000357757, ENST00000308659, ENST00000393256, ENST00000405953, | ENST00000409257, ENST00000589256, ENST00000588800, ENST00000591952, ENST00000327898, ENST00000586731, ENST00000589664, | |
Fusion gene scores | * DoF score | 4 X 2 X 4=32 | 4 X 3 X 3=36 |
# samples | 4 | 4 | |
** MAII score | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: BCL2L11 [Title/Abstract] AND AFMID [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BCL2L11 | GO:0008630 | intrinsic apoptotic signaling pathway in response to DNA damage | 11546872 |
Hgene | BCL2L11 | GO:0032464 | positive regulation of protein homooligomerization | 21041309 |
Hgene | BCL2L11 | GO:0034976 | response to endoplasmic reticulum stress | 22761832 |
Hgene | BCL2L11 | GO:2000271 | positive regulation of fibroblast apoptotic process | 11997495 |
![]() (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 | RV | BRCA | TCGA-BH-A18Q-01A | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
* 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 |
Frame-shift | ENST00000337565 | ENST00000409257 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000337565 | ENST00000589256 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000337565 | ENST00000588800 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000337565 | ENST00000591952 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000337565 | ENST00000327898 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000337565 | ENST00000586731 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
5CDS-intron | ENST00000337565 | ENST00000589664 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
intron-3CDS | ENST00000393253 | ENST00000409257 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
intron-3CDS | ENST00000393253 | ENST00000589256 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
intron-3CDS | ENST00000393253 | ENST00000588800 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
intron-3CDS | ENST00000393253 | ENST00000591952 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
intron-3CDS | ENST00000393253 | ENST00000327898 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
intron-3CDS | ENST00000393253 | ENST00000586731 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
intron-intron | ENST00000393253 | ENST00000589664 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000357757 | ENST00000409257 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000357757 | ENST00000589256 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000357757 | ENST00000588800 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000357757 | ENST00000591952 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000357757 | ENST00000327898 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000357757 | ENST00000586731 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
5CDS-intron | ENST00000357757 | ENST00000589664 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000308659 | ENST00000409257 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000308659 | ENST00000589256 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000308659 | ENST00000588800 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000308659 | ENST00000591952 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000308659 | ENST00000327898 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000308659 | ENST00000586731 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
5CDS-intron | ENST00000308659 | ENST00000589664 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000393256 | ENST00000409257 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000393256 | ENST00000589256 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000393256 | ENST00000588800 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000393256 | ENST00000591952 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000393256 | ENST00000327898 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000393256 | ENST00000586731 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
5CDS-intron | ENST00000393256 | ENST00000589664 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000405953 | ENST00000409257 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000405953 | ENST00000589256 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000405953 | ENST00000588800 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000405953 | ENST00000591952 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000405953 | ENST00000327898 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
Frame-shift | ENST00000405953 | ENST00000586731 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
5CDS-intron | ENST00000405953 | ENST00000589664 | BCL2L11 | chr2 | 111881716 | + | AFMID | chr17 | 76187051 | + |
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FusionProtFeatures for BCL2L11_AFMID |
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Hgene | Tgene |
BCL2L11 | AFMID |
Catalyzes the hydrolysis of N-formyl-L-kynurenine to L-kynurenine, the second step in the kynurenine pathway oftryptophan degradation. Kynurenine may be further oxidized tonicotinic acid, NAD(H) and NADP(H). Required for elimination oftoxic metabolites. {ECO:0000255|HAMAP-Rule:MF_03014}. |
![]() * 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 BCL2L11_AFMID |
![]() (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 BCL2L11_AFMID |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
BCL2L11 | BCL2L2, BCL2, BCL2L1, MCL1, DYNLL2, DYNLL1, VDAC1, BCL2A1, BTK, SMARCB1, GTF2I, TRIM2, UBQLN2, BTRC, HSPA4, CUL2, CISH, TCEB2, VHL, GNB2L1, CD302, FBXW11, APP, MAPK8, BAG3, YWHAB, AURKA, ATP6V1G1, FGL1, RIOK3, AURKB, FEM1C, NDRG1, MAGEA11, GIMAP5, EDNRA, ATP2A3, ANKLE2, MTHFR, RHPN2, BAX, KIF22, USP27X, MAPK1, MAPK3, SLC39A12, KLHL10, P4HA3, SLC18A1, MTA2, ADAM32, PCDHB11 | AFMID | ELAVL1, STK17B, TOMM40L, UAP1L1, PCBD1 |
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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 BCL2L11_AFMID |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for BCL2L11_AFMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | BCL2L11 | C0008313 | Cholangitis, Sclerosing | 1 | CTD_human |