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Fusion gene ID: 1616 |
FusionGeneSummary for AMMECR1_PLA2G12B |
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Fusion gene information | Fusion gene name: AMMECR1_PLA2G12B | Fusion gene ID: 1616 | Hgene | Tgene | Gene symbol | AMMECR1 | PLA2G12B | Gene ID | 9949 | 84647 |
Gene name | Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 | phospholipase A2 group XIIB | |
Synonyms | AMMERC1|MFHIEN | FKSG71|GXIIB|GXIIIsPLA2|PLA2G13|sPLA2-GXIIB | |
Cytomap | Xq23 | 10q22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | AMME syndrome candidate gene 1 proteinAlport syndrome mental retardation midface hypoplasia and elliptocytosis chromosomal region protein 1 | group XIIB secretory phospholipase A2-like proteingroup XIII secreted phospholipase A2phospholipase A2, group XIII | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | Q9Y4X0 | Q9BX93 | |
Ensembl transtripts involved in fusion gene | ENST00000262844, ENST00000372059, ENST00000372057, ENST00000496695, | ENST00000373032, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 1 X 1 X 1=1 |
# samples | 3 | 1 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: AMMECR1 [Title/Abstract] AND PLA2G12B [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 |
![]() (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 | LUAD | TCGA-MN-A4N5-01A | AMMECR1 | chrX | 109507717 | - | PLA2G12B | chr10 | 74702498 | - |
* 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 | ENST00000262844 | ENST00000373032 | AMMECR1 | chrX | 109507717 | - | PLA2G12B | chr10 | 74702498 | - |
intron-3CDS | ENST00000372059 | ENST00000373032 | AMMECR1 | chrX | 109507717 | - | PLA2G12B | chr10 | 74702498 | - |
In-frame | ENST00000372057 | ENST00000373032 | AMMECR1 | chrX | 109507717 | - | PLA2G12B | chr10 | 74702498 | - |
intron-3CDS | ENST00000496695 | ENST00000373032 | AMMECR1 | chrX | 109507717 | - | PLA2G12B | chr10 | 74702498 | - |
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FusionProtFeatures for AMMECR1_PLA2G12B |
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Hgene | Tgene |
AMMECR1 | PLA2G12B |
Not known; does not seem to have catalytic activity. |
![]() * 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 AMMECR1_PLA2G12B |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_AMMECR1_ENST00000372057_chrX_109507717_-_PLA2G12B_ENST00000373032_chr10_74702498_-_197aa MVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYPLFVTWKIGRDKRLRGCIGTFSAMNLHSGLREYTLTRKGTNAQTWLQAPRAQWLR LLFPGSQGTRKYGLGHSSNDKVLQPAGCLLXHLRCQQISLXCKIPMVSPLDLLXPXAESGLCLQSGSSLXFPGXHCVQHRVDLGLPPLYE |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_AMMECR1_ENST00000372057_chrX_109507717_-_PLA2G12B_ENST00000373032_chr10_74702498_-_592nt ATGGTGGTGTCAGCAGAGATGTGCTGCTTTTGCTTCGATGTGCTCTACTGTCACCTGTATGGATACCAGCAGCCCCGGACCCCCCGATTC ACCAACGAGCCCTACCCACTGTTTGTAACATGGAAGATTGGTCGAGACAAAAGATTACGTGGATGCATAGGTACTTTTTCTGCCATGAAT TTGCATTCAGGACTCAGGGAGTACACACTTACCAGGAAAGGCACCAATGCCCAGACCTGGCTACAAGCCCCAAGAGCCCAATGGCTGCGG CTCCTATTTCCTGGGTCTCAAGGTACCAGAAAGTATGGACTTGGGCATTCCAGCAATGACAAAGTGCTGCAACCAGCTGGATGTCTGTTA TGACACTTGCGGTGCCAACAAATATCGCTGTGATGCAAAATTCCGATGGTGTCTCCACTCGATCTGCTCTGACCTTAAGCGGAGTCTGGG CTTTGTCTCCAAAGTGGAAGCAGCCTGTGATTCCCTGGTTGACACTGTGTTCAACACCGTGTGGACCTTGGGCTGCCGCCCCTTTATGAA |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_AMMECR1_ENST00000372057_chrX_109507717_-_PLA2G12B_ENST00000373032_chr10_74702498_-_1676nt CTCTTTCTCTGGGCTAATCGTTTAGAGGACAGTCGCTCCTGCCAACCTAATCCCATGAGCCTGACTACCTTGCCGGGCCACAGGCTCAAA GAAGCAGTGTGGCTGCCAGCACCCTCACGGTAAGGGGCACGGAGGCACCAGGCAGTCTGGCAGGATGAGAGACATCCTGGGGGTGGTCTG AGTTTGGATGTGGGCTGAGAAGACAAAGCAGGGGGCTTTCGGGGGACAAGATTTTCCAAACATCTTATTCTTAGGATCATCACTTCCTAA TCTGATGCAACTGACTCGGCAGGCATTCGGGAGCCTGTAAGCTCCATTTTCCTGTTCCAAATTCTTCTGCACCTCACCATGAGTCCTCAC CTTGACCCTAATCAACTTGGGATTCTCCTCAAAGTACTTAGAAAGGAAAAGGAAGACGGTGACTACCCTGACATGATGGCCACCCACCCG AGCTCCAGGTATGAAGCCTGCTCCTCTGGAATTACTCTAGGGCTGCGGCGGCGGCGGCGGGGGGATCGCCCTGTCGCCACCTCCGAGCTG CGGAGTGGGGACCCTACTTTCTACCCCGGCCGCCGCCACCTCTTCCTCACCCTCCTCATCGTCCGCCGCCTCGTCCTCATCGCCGGGCTC CCGGAAGATGGTGGTGTCAGCAGAGATGTGCTGCTTTTGCTTCGATGTGCTCTACTGTCACCTGTATGGATACCAGCAGCCCCGGACCCC CCGATTCACCAACGAGCCCTACCCACTGTTTGTAACATGGAAGATTGGTCGAGACAAAAGATTACGTGGATGCATAGGTACTTTTTCTGC CATGAATTTGCATTCAGGACTCAGGGAGTACACACTTACCAGGAAAGGCACCAATGCCCAGACCTGGCTACAAGCCCCAAGAGCCCAATG GCTGCGGCTCCTATTTCCTGGGTCTCAAGGTACCAGAAAGTATGGACTTGGGCATTCCAGCAATGACAAAGTGCTGCAACCAGCTGGATG TCTGTTATGACACTTGCGGTGCCAACAAATATCGCTGTGATGCAAAATTCCGATGGTGTCTCCACTCGATCTGCTCTGACCTTAAGCGGA GTCTGGGCTTTGTCTCCAAAGTGGAAGCAGCCTGTGATTCCCTGGTTGACACTGTGTTCAACACCGTGTGGACCTTGGGCTGCCGCCCCT TTATGAATAGTCAGCGGGCAGCTTGCATCTGTGCAGAGGAGGAGAAGGAAGAGTTATGAGGAAGAAGTGATTCCTTCCTGGTTTTGAGTG ACACCACAGCTGTCAGCCTTCAAGATGTCAAGTCTTCGAGTCAGCGTGACTCATTCATTCTTCCAACAGTTTGGACACCACAAAGCAGGA GAAAGGGAACATTTTTCTACAGCTGGAAAGTGAGTCCTATCCTTTGAGGAAATTTGAAAAAAGACATGGAGTGGTTTGAAAGCTACTCTT CATTTAAGACTGCTCTCCCCAACCAAGACACATTTGCCTGGAAATTCAGTTCTTAGCTTAAAGACTAAAATGCAAGCAAACCCTGCAATT CCTGGACCTGATAGTTATATTCATGAGTGAAATTGTGGGGAGTCCAGCCATTTGGGAGGCAATGACTTTCTGCTGGCCCATGTTTCAGTT |
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FusionGenePPI for AMMECR1_PLA2G12B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
AMMECR1 | ELAVL1, CALCOCO2, RBPMS, ADAMTSL4, TSEN54, CLP1, PPIL4, GFER, ZNF703, HNRNPF, ZNF507 | PLA2G12B | ADAMTS1, CCPG1, GLG1 |
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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 AMMECR1_PLA2G12B |
![]() (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 AMMECR1_PLA2G12B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |