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Fusion Protein:KANSL1L-ERBB4 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: KANSL1L-ERBB4 | FusionPDB ID: 41133 | FusionGDB2.0 ID: 41133 | Hgene | Tgene | Gene symbol | KANSL1L | ERBB4 | Gene ID | 151050 | 2066 |
Gene name | KAT8 regulatory NSL complex subunit 1 like | erb-b2 receptor tyrosine kinase 4 | |
Synonyms | C2orf67|MSL1v2 | ALS19|HER4|p180erbB4 | |
Cytomap | 2q34 | 2q34 | |
Type of gene | protein-coding | protein-coding | |
Description | KAT8 regulatory NSL complex subunit 1-like proteinmale-specific lethal 1 homolog | receptor tyrosine-protein kinase erbB-4avian erythroblastic leukemia viral (v-erb-b2) oncogene homolog 4human epidermal growth factor receptor 4proto-oncogene-like protein c-ErbB-4tyrosine kinase-type cell surface receptor HER4v-erb-a erythroblastic | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | A0AUZ9 | Q15303 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000281772, ENST00000418791, ENST00000452086, ENST00000457374, ENST00000429908, | ENST00000484474, ENST00000342788, ENST00000402597, ENST00000436443, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 7 X 7 X 4=196 | 18 X 16 X 8=2304 |
# samples | 7 | 17 | |
** MAII score | log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/2304*10)=-3.76053406530461 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: KANSL1L [Title/Abstract] AND ERBB4 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | KANSL1L(210993755)-ERBB4(212495319), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF. KANSL1L-ERBB4 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* 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 | ERBB4 | GO:0007165 | signal transduction | 10572067 |
Tgene | ERBB4 | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway | 10353604|18334220 |
Tgene | ERBB4 | GO:0016477 | cell migration | 9135143 |
Tgene | ERBB4 | GO:0018108 | peptidyl-tyrosine phosphorylation | 18334220 |
Tgene | ERBB4 | GO:0046777 | protein autophosphorylation | 18334220 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | BRCA | TCGA-D8-A27M-01A | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000281772 | KANSL1L | chr2 | 210993755 | - | ENST00000436443 | ERBB4 | chr2 | 212495319 | - | 11321 | 1494 | 1501 | 3426 | 641 |
ENST00000281772 | KANSL1L | chr2 | 210993755 | - | ENST00000342788 | ERBB4 | chr2 | 212495319 | - | 11369 | 1494 | 1501 | 3474 | 657 |
ENST00000281772 | KANSL1L | chr2 | 210993755 | - | ENST00000402597 | ERBB4 | chr2 | 212495319 | - | 3475 | 1494 | 1501 | 3474 | 658 |
ENST00000418791 | KANSL1L | chr2 | 210993755 | - | ENST00000436443 | ERBB4 | chr2 | 212495319 | - | 11265 | 1438 | 1445 | 3370 | 641 |
ENST00000418791 | KANSL1L | chr2 | 210993755 | - | ENST00000342788 | ERBB4 | chr2 | 212495319 | - | 11313 | 1438 | 1445 | 3418 | 657 |
ENST00000418791 | KANSL1L | chr2 | 210993755 | - | ENST00000402597 | ERBB4 | chr2 | 212495319 | - | 3419 | 1438 | 1445 | 3418 | 658 |
ENST00000452086 | KANSL1L | chr2 | 210993755 | - | ENST00000436443 | ERBB4 | chr2 | 212495319 | - | 11265 | 1438 | 1445 | 3370 | 641 |
ENST00000452086 | KANSL1L | chr2 | 210993755 | - | ENST00000342788 | ERBB4 | chr2 | 212495319 | - | 11313 | 1438 | 1445 | 3418 | 657 |
ENST00000452086 | KANSL1L | chr2 | 210993755 | - | ENST00000402597 | ERBB4 | chr2 | 212495319 | - | 3419 | 1438 | 1445 | 3418 | 658 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000281772 | ENST00000436443 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.000178649 | 0.99982136 |
ENST00000281772 | ENST00000342788 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.000179412 | 0.99982065 |
ENST00000281772 | ENST00000402597 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.001344294 | 0.9986557 |
ENST00000418791 | ENST00000436443 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.000176571 | 0.9998235 |
ENST00000418791 | ENST00000342788 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.000176957 | 0.99982303 |
ENST00000418791 | ENST00000402597 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.001262129 | 0.9987379 |
ENST00000452086 | ENST00000436443 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.000176571 | 0.9998235 |
ENST00000452086 | ENST00000342788 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.000176957 | 0.99982303 |
ENST00000452086 | ENST00000402597 | KANSL1L | chr2 | 210993755 | - | ERBB4 | chr2 | 212495319 | - | 0.001262129 | 0.9987379 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >41133_41133_1_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000281772_ERBB4_chr2_212495319_ENST00000342788_length(amino acids)=657AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN -------------------------------------------------------------- >41133_41133_2_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000281772_ERBB4_chr2_212495319_ENST00000402597_length(amino acids)=658AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN -------------------------------------------------------------- >41133_41133_3_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000281772_ERBB4_chr2_212495319_ENST00000436443_length(amino acids)=641AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAP HVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAEDEYVNEPL YLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLP -------------------------------------------------------------- >41133_41133_4_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000418791_ERBB4_chr2_212495319_ENST00000342788_length(amino acids)=657AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN -------------------------------------------------------------- >41133_41133_5_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000418791_ERBB4_chr2_212495319_ENST00000402597_length(amino acids)=658AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN -------------------------------------------------------------- >41133_41133_6_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000418791_ERBB4_chr2_212495319_ENST00000436443_length(amino acids)=641AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAP HVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAEDEYVNEPL YLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLP -------------------------------------------------------------- >41133_41133_7_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000452086_ERBB4_chr2_212495319_ENST00000342788_length(amino acids)=657AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN -------------------------------------------------------------- >41133_41133_8_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000452086_ERBB4_chr2_212495319_ENST00000402597_length(amino acids)=658AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRSEIGHSPPPAYTPMSGNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEI FDDSCCNGTLRKPVAPHVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNA SNGPPKAEDEYVNEPLYLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAEN -------------------------------------------------------------- >41133_41133_9_KANSL1L-ERBB4_KANSL1L_chr2_210993755_ENST00000452086_ERBB4_chr2_212495319_ENST00000436443_length(amino acids)=641AA_BP= MIAAGVIGGLFILVIVGLTFAVYVRRKSIKKKRALRRFLETELVEPLTPSGTAPNQAQLRILKETELKRVKVLGSGAFGTVYKGIWVPEG ETVKIPVAIKILNETTGPKANVEFMDEALIMASMDHPHLVRLLGVCLSPTIQLVTQLMPHGCLLEYVHEHKDNIGSQLLLNWCVQIAKGM MYLEERRLVHRDLAARNVLVKSPNHVKITDFGLARLLEGDEKEYNADGGKMPIKWMALECIHYRKFTHQSDVWSYGVTIWELMTFGGKPY DGIPTREIPDLLEKGERLPQPPICTIDVYMVMVKCWMIDADSRPKFKELAAEFSRMARDPQRYLVIQGDDRMKLPSPNDSKFFQNLLDEE DLEDMMDAEEYLVPQAFNIPPPIYTSRARIDSNRNQFVYRDGGFAAEQGVSVPYRAPTSTIPEAPVAQGATAEIFDDSCCNGTLRKPVAP HVQEDSSTQRYSADPTVFAPERSPRGELDEEGYMTPMRDKPKQEYLNPVEENPFVSRRKNGDLQALDNPEYHNASNGPPKAEDEYVNEPL YLNTFANTLGKAEYLKNNILSMPEKAKKAFDNPDYWNHSLPPRSTLQHPDYLQEYSTKYFYKQNGRIRPIVAENPEYLSEFSLKPGTVLP -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:210993755/chr2:212495319) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
KANSL1L | ERBB4 |
FUNCTION: Tyrosine-protein kinase that plays an essential role as cell surface receptor for neuregulins and EGF family members and regulates development of the heart, the central nervous system and the mammary gland, gene transcription, cell proliferation, differentiation, migration and apoptosis. Required for normal cardiac muscle differentiation during embryonic development, and for postnatal cardiomyocyte proliferation. Required for normal development of the embryonic central nervous system, especially for normal neural crest cell migration and normal axon guidance. Required for mammary gland differentiation, induction of milk proteins and lactation. Acts as cell-surface receptor for the neuregulins NRG1, NRG2, NRG3 and NRG4 and the EGF family members BTC, EREG and HBEGF. Ligand binding triggers receptor dimerization and autophosphorylation at specific tyrosine residues that then serve as binding sites for scaffold proteins and effectors. Ligand specificity and signaling is modulated by alternative splicing, proteolytic processing, and by the formation of heterodimers with other ERBB family members, thereby creating multiple combinations of intracellular phosphotyrosines that trigger ligand- and context-specific cellular responses. Mediates phosphorylation of SHC1 and activation of the MAP kinases MAPK1/ERK2 and MAPK3/ERK1. Isoform JM-A CYT-1 and isoform JM-B CYT-1 phosphorylate PIK3R1, leading to the activation of phosphatidylinositol 3-kinase and AKT1 and protect cells against apoptosis. Isoform JM-A CYT-1 and isoform JM-B CYT-1 mediate reorganization of the actin cytoskeleton and promote cell migration in response to NRG1. Isoform JM-A CYT-2 and isoform JM-B CYT-2 lack the phosphotyrosine that mediates interaction with PIK3R1, and hence do not phosphorylate PIK3R1, do not protect cells against apoptosis, and do not promote reorganization of the actin cytoskeleton and cell migration. Proteolytic processing of isoform JM-A CYT-1 and isoform JM-A CYT-2 gives rise to the corresponding soluble intracellular domains (4ICD) that translocate to the nucleus, promote nuclear import of STAT5A, activation of STAT5A, mammary epithelium differentiation, cell proliferation and activation of gene expression. The ERBB4 soluble intracellular domains (4ICD) colocalize with STAT5A at the CSN2 promoter to regulate transcription of milk proteins during lactation. The ERBB4 soluble intracellular domains can also translocate to mitochondria and promote apoptosis. {ECO:0000269|PubMed:10348342, ECO:0000269|PubMed:10353604, ECO:0000269|PubMed:10358079, ECO:0000269|PubMed:10722704, ECO:0000269|PubMed:10867024, ECO:0000269|PubMed:11178955, ECO:0000269|PubMed:11390655, ECO:0000269|PubMed:12807903, ECO:0000269|PubMed:15534001, ECO:0000269|PubMed:15746097, ECO:0000269|PubMed:16251361, ECO:0000269|PubMed:16778220, ECO:0000269|PubMed:16837552, ECO:0000269|PubMed:17486069, ECO:0000269|PubMed:17638867, ECO:0000269|PubMed:19098003, ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:8383326, ECO:0000269|PubMed:8617750, ECO:0000269|PubMed:9135143, ECO:0000269|PubMed:9168115, ECO:0000269|PubMed:9334263}. |
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- 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 |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 718_985 | 648.6666666666666 | 1309.0 | Domain | Protein kinase | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 718_985 | 638.6666666666666 | 1299.0 | Domain | Protein kinase | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 718_985 | 648.6666666666666 | 1293.0 | Domain | Protein kinase | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 1032_1035 | 648.6666666666666 | 1309.0 | Motif | Note=PPxY motif 1 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 1053_1056 | 648.6666666666666 | 1309.0 | Motif | Note=PPxY motif 2 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 1298_1301 | 648.6666666666666 | 1309.0 | Motif | Note=PPxY motif 3 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 1306_1308 | 648.6666666666666 | 1309.0 | Motif | Note=PDZ-binding | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 676_684 | 648.6666666666666 | 1309.0 | Motif | Note=Nuclear localization signal | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 1032_1035 | 638.6666666666666 | 1299.0 | Motif | Note=PPxY motif 1 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 1053_1056 | 638.6666666666666 | 1299.0 | Motif | Note=PPxY motif 2 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 1298_1301 | 638.6666666666666 | 1299.0 | Motif | Note=PPxY motif 3 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 1306_1308 | 638.6666666666666 | 1299.0 | Motif | Note=PDZ-binding | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 676_684 | 638.6666666666666 | 1299.0 | Motif | Note=Nuclear localization signal | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 1032_1035 | 648.6666666666666 | 1293.0 | Motif | Note=PPxY motif 1 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 1053_1056 | 648.6666666666666 | 1293.0 | Motif | Note=PPxY motif 2 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 1298_1301 | 648.6666666666666 | 1293.0 | Motif | Note=PPxY motif 3 | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 1306_1308 | 648.6666666666666 | 1293.0 | Motif | Note=PDZ-binding | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 676_684 | 648.6666666666666 | 1293.0 | Motif | Note=Nuclear localization signal | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 724_732 | 648.6666666666666 | 1309.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 797_799 | 648.6666666666666 | 1309.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 843_848 | 648.6666666666666 | 1309.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 724_732 | 638.6666666666666 | 1299.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 797_799 | 638.6666666666666 | 1299.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 843_848 | 638.6666666666666 | 1299.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 724_732 | 648.6666666666666 | 1293.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 797_799 | 648.6666666666666 | 1293.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 843_848 | 648.6666666666666 | 1293.0 | Nucleotide binding | ATP | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 676_1308 | 648.6666666666666 | 1309.0 | Topological domain | Cytoplasmic | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 676_1308 | 638.6666666666666 | 1299.0 | Topological domain | Cytoplasmic | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 676_1308 | 648.6666666666666 | 1293.0 | Topological domain | Cytoplasmic | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 652_675 | 648.6666666666666 | 1309.0 | Transmembrane | Helical | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 652_675 | 638.6666666666666 | 1299.0 | Transmembrane | Helical | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 652_675 | 648.6666666666666 | 1293.0 | Transmembrane | Helical |
- 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 |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 186_334 | 648.6666666666666 | 1309.0 | Compositional bias | Note=Cys-rich | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 496_633 | 648.6666666666666 | 1309.0 | Compositional bias | Note=Cys-rich | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 186_334 | 638.6666666666666 | 1299.0 | Compositional bias | Note=Cys-rich | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 496_633 | 638.6666666666666 | 1299.0 | Compositional bias | Note=Cys-rich | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 186_334 | 648.6666666666666 | 1293.0 | Compositional bias | Note=Cys-rich | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 496_633 | 648.6666666666666 | 1293.0 | Compositional bias | Note=Cys-rich | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000342788 | 15 | 28 | 26_651 | 648.6666666666666 | 1309.0 | Topological domain | Extracellular | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000402597 | 15 | 28 | 26_651 | 638.6666666666666 | 1299.0 | Topological domain | Extracellular | |
Tgene | ERBB4 | chr2:210993755 | chr2:212495319 | ENST00000436443 | 15 | 27 | 26_651 | 648.6666666666666 | 1293.0 | Topological domain | Extracellular |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
KANSL1L | |
ERBB4 | ![]() |
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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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Related Drugs to KANSL1L-ERBB4 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to KANSL1L-ERBB4 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ERBB4 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
Tgene | ERBB4 | C0036341 | Schizophrenia | 4 | PSYGENET |
Tgene | ERBB4 | C0004238 | Atrial Fibrillation | 2 | CTD_human |
Tgene | ERBB4 | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human |
Tgene | ERBB4 | C2585653 | Persistent atrial fibrillation | 2 | CTD_human |
Tgene | ERBB4 | C3468561 | familial atrial fibrillation | 2 | CTD_human |
Tgene | ERBB4 | C0002736 | Amyotrophic Lateral Sclerosis | 1 | ORPHANET |
Tgene | ERBB4 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
Tgene | ERBB4 | C0016978 | gallbladder neoplasm | 1 | CTD_human |
Tgene | ERBB4 | C0025202 | melanoma | 1 | CGI;CTD_human |
Tgene | ERBB4 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Tgene | ERBB4 | C0153452 | Malignant neoplasm of gallbladder | 1 | CTD_human |
Tgene | ERBB4 | C3715155 | AMYOTROPHIC LATERAL SCLEROSIS 19 | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |