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Fusion gene ID: 16133 |
FusionGeneSummary for HEYL_COL9A2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: HEYL_COL9A2 | Fusion gene ID: 16133 | Hgene | Tgene | Gene symbol | HEYL | COL9A2 | Gene ID | 26508 | 1298 |
| Gene name | hes related family bHLH transcription factor with YRPW motif-like | collagen type IX alpha 2 chain | |
| Synonyms | HESR3|HEY3|HRT3|bHLHb33 | DJ39G22.4|EDM2|MED|STL5 | |
| Cytomap | 1p34.2 | 1p34.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | hairy/enhancer-of-split related with YRPW motif-like proteinHEY-like proteinHRT-3class B basic helix-loop-helix protein 33hHRT3hHeyLhairy-related transcription factor 3hairy/enhancer-of-split related with YRPW motif 3 | collagen alpha-2(IX) chainalpha 2 type IX collagencollagen IX, alpha-2 polypeptidecollagen, type IX, alpha 2 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9NQ87 | Q14055 | |
| Ensembl transtripts involved in fusion gene | ENST00000372852, ENST00000535435, | ENST00000372748, ENST00000466267, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 1 X 1 X 1=1 |
| # samples | 5 | 2 | |
| ** MAII score | log2(5/18*10)=1.47393118833241 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/1*10)=4.32192809488736 | |
| Context | PubMed: HEYL [Title/Abstract] AND COL9A2 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | HEYL | GO:0007219 | Notch signaling pathway | 10964718 |
| Hgene | HEYL | GO:0045892 | negative regulation of transcription, DNA-templated | 15485867|21454491 |
| Hgene | HEYL | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21290414 |
| Hgene | HEYL | GO:0060766 | negative regulation of androgen receptor signaling pathway | 21454491 |
| Hgene | HEYL | GO:2000824 | negative regulation of androgen receptor activity | 21454491 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-E2-A15E-01A | HEYL | chr1 | 40105218 | - | COL9A2 | chr1 | 40777387 | - |
| TCGA | RV | BRCA | TCGA-E2-A15E-06A | HEYL | chr1 | 40105218 | - | COL9A2 | chr1 | 40777387 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000372852 | ENST00000372748 | HEYL | chr1 | 40105218 | - | COL9A2 | chr1 | 40777387 | - |
| 5CDS-intron | ENST00000372852 | ENST00000466267 | HEYL | chr1 | 40105218 | - | COL9A2 | chr1 | 40777387 | - |
| intron-3CDS | ENST00000535435 | ENST00000372748 | HEYL | chr1 | 40105218 | - | COL9A2 | chr1 | 40777387 | - |
| intron-intron | ENST00000535435 | ENST00000466267 | HEYL | chr1 | 40105218 | - | COL9A2 | chr1 | 40777387 | - |
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FusionProtFeatures for HEYL_COL9A2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| HEYL | COL9A2 |
| Downstream effector of Notch signaling which may berequired for cardiovascular development (By similarity).Transcriptional repressor which binds preferentially to thecanonical E box sequence 5'-CACGTG-3' (By similarity). Repressestranscription by the cardiac transcriptional activators GATA4 andGATA6. {ECO:0000250, ECO:0000269|PubMed:15485867}. | Structural component of hyaline cartilage and vitreousof the eye. |
| Retention 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 . * 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 |
| Tgene | >COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 164_180 | 139 | 690 | Region | Note=Nonhelical region 4 (NC4) |
| Tgene | >COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 181_519 | 139 | 690 | Region | Note=Triple-helical region 3 (COL3) |
| Tgene | >COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 520_549 | 139 | 690 | Region | Note=Nonhelical region 3 (NC3) |
| Tgene | >COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 550_632 | 139 | 690 | Region | Note=Triple-helical region 2 (COL2) |
| Tgene | >COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 633_634 | 139 | 690 | Region | Note=Nonhelical region 2 (NC2) |
| Tgene | >COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 635_664 | 139 | 690 | Region | Note=Triple-helical region 1 (COL1) |
| Tgene | >COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 665_689 | 139 | 690 | Region | Note=Nonhelical region 1 (NC1) |
| - 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 |
| Hgene | >HEYL | chr1:40105218 | chr1:40777387 | ENST00000372852 | - | 1 | 5 | 162_309 | 26 | 329 | Compositional bias | Note=Pro-rich |
| Hgene | >HEYL | chr1:40105218 | chr1:40777387 | ENST00000372852 | - | 1 | 5 | 116_153 | 26 | 329 | Domain | Orange |
| Hgene | >HEYL | chr1:40105218 | chr1:40777387 | ENST00000372852 | - | 1 | 5 | 43_98 | 26 | 329 | Domain | bHLH |
| Tgene | COL9A2 | chr1:40105218 | chr1:40777387 | ENST00000372748 | - | 7 | 32 | 27_163 | 139 | 690 | Region | Note=Triple-helical region 4 (COL4) |
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FusionGeneSequence for HEYL_COL9A2 |
| 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. |
| >In-frame_HEYL_ENST00000372852_chr1_40105218_-_COL9A2_ENST00000372748_chr1_40777387_-_577aa MKRPKEPSGSDGESDGPIDVGQEGQLRGTLDQMDHRGPQDPLGNLVAREPSRVWKAVRISCVQPTVHPEXKVPQGCREXRGMRANAGFWV ILATRGSRVPREMWVPLESKASLDHRVPRASGATQAWQGPRERRALMDIKAWWALSVPLGHRVRKVLGDRQAELGRRVTRAAQVFVDPRG SQARKEQRAPQASTARMGPQARLAXRAVQDRRDSPEVQATRAXRVCQASLGQKEALETRVSRARRAFLDSLVPLGKRESQGLEEKLVPRA SWDRRVTKARGVQWGNQALREGRALRGSRAPPEFQGPKACQASKETRAPQGRPGPAAKWVTQGWPASPERKARRASPASRGPRDSKEYVE NPATLAPAGMRAPQGFRATLVPPALEDWPGTEACQDSPGDRAWRAGMPLTSTSWMWRXRCCKSNWQRSPXVPSGKPWVRWAXWVLQDLLG PLGTQASRAPMGTLALGAFLASWEPWVRSATRGPRENVERRVIQEKWDGGTPGCLGPQGSQDSLAGLARQSTARMEIEGPQGLQERQVDL >In-frame_HEYL_ENST00000372852_chr1_40105218_-_COL9A2_ENST00000372748_chr1_40777387_-_577aa MKRPKEPSGSDGESDGPIDVGQEGQLRGTLDQMDHRGPQDPLGNLVAREPSRVWKAVRISCVQPTVHPEXKVPQGCREXRGMRANAGFWV ILATRGSRVPREMWVPLESKASLDHRVPRASGATQAWQGPRERRALMDIKAWWALSVPLGHRVRKVLGDRQAELGRRVTRAAQVFVDPRG SQARKEQRAPQASTARMGPQARLAXRAVQDRRDSPEVQATRAXRVCQASLGQKEALETRVSRARRAFLDSLVPLGKRESQGLEEKLVPRA SWDRRVTKARGVQWGNQALREGRALRGSRAPPEFQGPKACQASKETRAPQGRPGPAAKWVTQGWPASPERKARRASPASRGPRDSKEYVE NPATLAPAGMRAPQGFRATLVPPALEDWPGTEACQDSPGDRAWRAGMPLTSTSWMWRXRCCKSNWQRSPXVPSGKPWVRWAXWVLQDLLG PLGTQASRAPMGTLALGAFLASWEPWVRSATRGPRENVERRVIQEKWDGGTPGCLGPQGSQDSLAGLARQSTARMEIEGPQGLQERQVDL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_HEYL_ENST00000372852_chr1_40105218_-_COL9A2_ENST00000372748_chr1_40777387_-_1733nt ATGAAGCGACCCAAGGAGCCGAGCGGCTCCGACGGGGAGTCCGACGGACCCATCGACGTGGGCCAAGAGGGCCAGCTGAGGGGGACCCTG GACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCC TGTGTCCAACCAACTGTCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTG ATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCA TCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGACGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGC CACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGA TCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGAC AGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTG AGCCGGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCA TCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCC CCCCCGGAATTCCAGGGCCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTG ACCCAGGGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAG AACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCCAGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGA ACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGAGGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGC TGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCGGGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGC CCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGCGTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCA ACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCCCCAGGGATCC CAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTG GCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCCGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGC >In-frame_HEYL_ENST00000372852_chr1_40105218_-_COL9A2_ENST00000372748_chr1_40777387_-_1733nt ATGAAGCGACCCAAGGAGCCGAGCGGCTCCGACGGGGAGTCCGACGGACCCATCGACGTGGGCCAAGAGGGCCAGCTGAGGGGGACCCTG GACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAAACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCC TGTGTCCAACCAACTGTCCACCCGGAATGAAAGGTCCCCCAGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTG ATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGGGAGATGTGGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCA TCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGACGGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGC CACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGCTGGGGAGAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGA TCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAACGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGAC AGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGCGGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTG AGCCGGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCCTGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCA TCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGTGGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCC CCCCCGGAATTCCAGGGCCCCAAGGCTTGCCAGGCGTCAAAGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTG ACCCAGGGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAAGGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAG AACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCCAGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGA ACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGAGGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGC TGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCGGGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGC CCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCCTGGCCCTCGGGGCGTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCA ACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCCAGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCCCCAGGGATCC CAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAAGGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTG GCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACCTGCCGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_HEYL_ENST00000372852_chr1_40105218_-_COL9A2_ENST00000372748_chr1_40777387_-_2748nt CTCCTGGCTTCCCCGCGGGGCCTCCCAGGGCACCTGCCCAAGGCCACCCAGCGCGCGGCAGCCGAGACAGCGGAGCAGAGCCGGACCTCC CAGCCGTCGATGAAGGCGGCGACCGCCTAGGGCCTTCCCACGGCTCGGCGGCGCGTCACCGCGGGGGCGAGGGGGCGCCTGGGCGCCCGG AGCTGCGGCGCAGGAAAGGGCCCTGGGAAAGGGCGGTGGCGGCGCCCCCGAGGCGGGGCCGGGGCGGGGCCGGGGCGGGGCCTGACTTCC CGACTGGGAGCCTTAGCCGCGGGGCTGAGACCAGGCAGCCTGCGTTCGCCATGAAGCGACCCAAGGAGCCGAGCGGCTCCGACGGGGAGT CCGACGGACCCATCGACGTGGGCCAAGAGGGCCAGCTGAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAA ACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCAACCAACTGTCCACCCGGAATGAAAGGTCCCCC AGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGGGAGATGT GGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGAC GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGC TGGGGAGAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAA CGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGC GGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCC TGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGT GGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGGGCCCCAAGGCTTGCCAGGCGTCAA AGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAA GGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCC AGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGA GGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCG GGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCC TGGCCCTCGGGGCGTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCC AGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCCCCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAA GGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACC TGCCGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAG AGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGAC CTTCTGTCTGGGACTCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGG CCAACACACAGGGCAAGTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACC AAAACAAACATCTTAATCTGCACCTTTCTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTG CCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGACCTACCAGG TGACTGCTGCTGGGTGACTCCCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAAC ATCATCTCCCTTCTCTTTCTCGCATAACTCCCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAAAAGCTCCCAAGTTGGG >In-frame_HEYL_ENST00000372852_chr1_40105218_-_COL9A2_ENST00000372748_chr1_40777387_-_2748nt CTCCTGGCTTCCCCGCGGGGCCTCCCAGGGCACCTGCCCAAGGCCACCCAGCGCGCGGCAGCCGAGACAGCGGAGCAGAGCCGGACCTCC CAGCCGTCGATGAAGGCGGCGACCGCCTAGGGCCTTCCCACGGCTCGGCGGCGCGTCACCGCGGGGGCGAGGGGGCGCCTGGGCGCCCGG AGCTGCGGCGCAGGAAAGGGCCCTGGGAAAGGGCGGTGGCGGCGCCCCCGAGGCGGGGCCGGGGCGGGGCCGGGGCGGGGCCTGACTTCC CGACTGGGAGCCTTAGCCGCGGGGCTGAGACCAGGCAGCCTGCGTTCGCCATGAAGCGACCCAAGGAGCCGAGCGGCTCCGACGGGGAGT CCGACGGACCCATCGACGTGGGCCAAGAGGGCCAGCTGAGGGGGACCCTGGACCAGATGGACCATCGGGGCCCCCAGGACCCCCTGGGAA ACCTGGTCGCCCGGGAACCATCCAGGGTCTGGAAGGCAGTGCGGATTTCCTGTGTCCAACCAACTGTCCACCCGGAATGAAAGGTCCCCC AGGGCTGCAGGGAGTGAAGGGGCATGCGGGCAAACGCGGGATTCTGGGTGATCCTGGCCACCAGGGGAAGCCGGGTCCCAAGGGAGATGT GGGTGCCTCTGGAGAGCAAGGCATCCCTGGACCACCGGGTCCCCAGGGCATCAGGGGCTACCCAGGCATGGCAGGGCCCAAGGGAGAGAC GGGCCCTCATGGATATAAAGGCATGGTGGGCGCTATCGGTGCCACTGGGCCACCGGGTGAGGAAGGTCCTAGGGGACCGCCAGGCCGAGC TGGGGAGAAGGGTGACGAGGGCAGCCCAGGTATTCGTGGACCCCAGGGGATCACAGGCCCGAAAGGAGCAACGGGCCCCCCAGGCATCAA CGGCAAGGATGGGACCCCAGGCACGCCTGGCATGAAGGGCAGTGCAGGACAGGCGGGACAGCCCGGAAGTCCAGGCCACCAGGGCCTAGC GGGTGTGCCAGGCCAGCCTGGGACAAAAGGAGGCCCTGGAGACCAGGGTGAGCCGGGCCCGCAGGGCCTTCCTGGATTCTCTGGTCCCCC TGGGAAAGAGGGAGAGCCAGGGCCTCGAGGAGAAATTGGTCCCCAGGGCATCATGGGACAGAAGGGTGACCAAGGCGAGAGGGGTCCAGT GGGGCAACCAGGCCCTCAGGGAAGGCAGGGCCCTAAGGGGGAGCAGGGCCCCCCCGGAATTCCAGGGCCCCAAGGCTTGCCAGGCGTCAA AGGAGACAAGGGCTCCCCAGGGAAGACCGGGCCCCGCGGCAAAGTGGGTGACCCAGGGGTGGCCGGCCTCCCCGGAGAGAAAGGCGAGAA GGGCGAGTCCGGCGAGCCGGGGCCCAAGGGACAGCAAGGAGTACGTGGAGAACCCGGCTACCCTGGCCCCAGCGGGGATGCGGGCGCCCC AGGGGTTCAGGGCTACCCTGGTCCCCCCGGCCCTCGAGGACTGGCCGGGAACCGAGGCGTGCCAGGACAGCCCGGGAGACAGGGCGTGGA GGGCCGGGATGCCACTGACCAGCACATCGTGGATGTGGCGCTGAAGATGCTGCAAGAGCAACTGGCAGAGGTCGCCGTGAGTGCCAAGCG GGAAGCCCTGGGTGCGGTGGGCATGATGGGTCCTCCAGGACCTCCTGGGCCCCCTGGGTACCCAGGCAAGCAGGGCCCCCATGGGCACCC TGGCCCTCGGGGCGTTCCTGGCATCGTGGGAGCCGTGGGTCAGATCGGCAACACGGGGCCCAAGGGAAAACGTGGAGAGAAGGGTGATCC AGGAGAAGTGGGACGGGGGCACCCCGGGATGCCTGGGCCCCCAGGGATCCCAGGACTCCCTGGCCGGCCTGGCCAGGCAATCAACGGCAA GGATGGAGATCGAGGGTCCCCAGGGGCTCCAGGAGAGGCAGGTCGACCTGGCCTGCCAGGCCCCGTGGGGCTGCCGGGCTTCTGTGAACC TGCCGCCTGCCTTGGAGCTTCGGCCTATGCCTCTGCCCGCCTTACAGAGCCTGGATCCATCAAGGGGCCTTGAGCATCAGGCCCAGACAG AGCCTGGCAGGCATCCTGGCGGGAAGGACCAGGTCCCCTCTGGGTGGACATGCACCCATCCCCAGTCCAGGAAACCATCTCCCCCAGGAC CTTCTGTCTGGGACTCAGGAGTCCTAAGGAAAAGGAATTCTAAAACATGGGGGAAGGGGAGGTAGAGCACTGATGGGTGAAAAAGTGAGG CCAACACACAGGGCAAGTGGTGTCGATGGAGTCGAAGCGCTGAAGGAATAGGGCGGCTTTCCTTCCAGCGAGCATCATTCGGCTGTTACC AAAACAAACATCTTAATCTGCACCTTTCTCCACTGGCCATCTTGTCCTTGGGTCAGTGGGACATGGGCACCTCGGGAGGCCCGGGCCCTG CCCAGCTACAGTTCCACCCCTCAGCTTGAGGACCAATGACTGAGGTCTATGCCAGTTCCTGATCCCATCTCACTCTCTGGACCTACCAGG TGACTGCTGCTGGGTGACTCCCCTGAGGCGGCTATACCCTTAAGCCAGCCCCACTACTTCCTTCCCTGCCTCCCAGCTCAGTATTTAAAC ATCATCTCCCTTCTCTTTCTCGCATAACTCCCCACCCCTTTCTCCCCGATCCACCCAGGCCTTTCTGTAAATAAAAGCTCCCAAGTTGGG |
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FusionGenePPI for HEYL_COL9A2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| HEYL | RBPMS, HAND1, SP8, APP, HTT, ATXN1, SMAD7, SMAD9, SKIL, PPP1CA, SMAD3, LAPTM5, ZNF512B, HIPK3, MDFI, RPGRIP1, ARL10, FNTA, PGGT1B, FBXO45 | COL9A2 | NOA1, FEZ1, HAP1, PHB, MTNR1A |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HEYL_COL9A2 |
| Drugs targeting genes involved in this fusion gene. (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 HEYL_COL9A2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | HEYL | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Tgene | COL9A2 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| Tgene | COL9A2 | C0158252 | Intervertebral disc disorder | 1 | CTD_human;UNIPROT |
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