Evidence Details for ESRP1
Basic Information Top
Gene Symbol: | ESRP1 ( FLJ20171,RBM35A,RMB35A ) |
---|---|
Gene Full Name: | epithelial splicing regulatory protein 1 |
Band: | 8q22.1 |
Quick Links | Entrez ID:54845; OMIM: 612959; Uniprot ID:ESRP1_HUMAN; ENSEMBL ID: ENSG00000104413; HGNC ID: 25966 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ESRP1|54845|nucleotide
ATGACGGCCTCTCCGGATTACTTGGTGGTGCTTTTTGGGATCACTGCTGGGGCCACCGGGGCCAAGCTAGGCTCGGATGAGAAGGAGTTGATCCTGCTGTTCTGG
AAAGTCGTGGATCTGGCCAACAAGAAGGTGGGACAGTTGCACGAAGTGCTAGTTAGACCGGATCAGTTGGAACTGACGGAGGACTGCAAAGAAGAAACTAAAATA
GACGTCGAAAGCCTGTCCTCGGCGTCGCAGCTGGACCAAGCCCTCCGACAGTTTAACCAGTCAGTGAGCAATGAACTGAATATTGGAGTAGGGACTTCCTTCTGT
CTCTGTACTGATGGGCAGCTTCATGTCAGGCAAATCCTGCATCCTGAGGCTTCCAAGAAGAATGTACTATTACCTGAATGCTTCTATTCCTTTTTTGATCTTCGA
AAAGAATTCAAGAAATGTTGCCCTGGTTCACCTGATATTGACAAACTGGACGTTGCCACAATGACAGAGTATTTAAATTTTGAGAAGAGTAGTTCAGTCTCTCGA
TATGGAGCCTCTCAAGTTGAAGATATGGGGAATATAATTTTAGCAATGATTTCAGAGCCTTATAATCACAGGTTTTCAGATCCAGAGAGAGTGAATTACAAGTTT
GAAAGTGGAACTTGCAGCAAGATGGAACTTATTGATGATAACACCGTAGTCAGGGCACGAGGTTTACCATGGCAGTCTTCAGATCAAGATATTGCAAGATTCTTC
AAAGGACTCAATATTGCCAAGGGAGGTGCAGCACTTTGTCTGAATGCTCAGGGTCGAAGGAACGGAGAAGCTCTGGTTAGGTTTGTAAGTGAGGAGCACCGAGAC
CTAGCACTACAGAGGCACAAACATCACATGGGGACCCGGTATATTGAGGTTTACAAAGCAACAGGTGAAGATTTCCTTAAAATTGCTGGTGGTACTTCCAATGAG
GTAGCCCAGTTTCTCTCCAAGGAAAATCAAGTCATTGTCCGCATGCGGGGGCTCCCTTTCACGGCCACAGCTGAAGAAGTGGTGGCCTTCTTTGGACAGCATTGC
CCTATTACTGGGGGAAAGGAAGGCATCCTCTTTGTCACCTACCCAGATGGTAGGCCAACAGGGGACGCTTTTGTCCTCTTTGCCTGTGAGGAATATGCACAGAAT
Show »
ATGACGGCCTCTCCGGATTACTTGGTGGTGCTTTTTGGGATCACTGCTGGGGCCACCGGGGCCAAGCTAGGCTCGGATGAGAAGGAGTTGATCCTGCTGTTCTGG
AAAGTCGTGGATCTGGCCAACAAGAAGGTGGGACAGTTGCACGAAGTGCTAGTTAGACCGGATCAGTTGGAACTGACGGAGGACTGCAAAGAAGAAACTAAAATA
GACGTCGAAAGCCTGTCCTCGGCGTCGCAGCTGGACCAAGCCCTCCGACAGTTTAACCAGTCAGTGAGCAATGAACTGAATATTGGAGTAGGGACTTCCTTCTGT
CTCTGTACTGATGGGCAGCTTCATGTCAGGCAAATCCTGCATCCTGAGGCTTCCAAGAAGAATGTACTATTACCTGAATGCTTCTATTCCTTTTTTGATCTTCGA
AAAGAATTCAAGAAATGTTGCCCTGGTTCACCTGATATTGACAAACTGGACGTTGCCACAATGACAGAGTATTTAAATTTTGAGAAGAGTAGTTCAGTCTCTCGA
TATGGAGCCTCTCAAGTTGAAGATATGGGGAATATAATTTTAGCAATGATTTCAGAGCCTTATAATCACAGGTTTTCAGATCCAGAGAGAGTGAATTACAAGTTT
GAAAGTGGAACTTGCAGCAAGATGGAACTTATTGATGATAACACCGTAGTCAGGGCACGAGGTTTACCATGGCAGTCTTCAGATCAAGATATTGCAAGATTCTTC
AAAGGACTCAATATTGCCAAGGGAGGTGCAGCACTTTGTCTGAATGCTCAGGGTCGAAGGAACGGAGAAGCTCTGGTTAGGTTTGTAAGTGAGGAGCACCGAGAC
CTAGCACTACAGAGGCACAAACATCACATGGGGACCCGGTATATTGAGGTTTACAAAGCAACAGGTGAAGATTTCCTTAAAATTGCTGGTGGTACTTCCAATGAG
GTAGCCCAGTTTCTCTCCAAGGAAAATCAAGTCATTGTCCGCATGCGGGGGCTCCCTTTCACGGCCACAGCTGAAGAAGTGGTGGCCTTCTTTGGACAGCATTGC
CCTATTACTGGGGGAAAGGAAGGCATCCTCTTTGTCACCTACCCAGATGGTAGGCCAACAGGGGACGCTTTTGTCCTCTTTGCCTGTGAGGAATATGCACAGAAT
Show »
>ESRP1|54845|protein
MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFC
LCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQVEDMGNIILAMISEPYNHRFSDPERVNYKF
ESGTCSKMELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKATGEDFLKIAGGTSNE
VAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGILFVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVLNRFSSAP
LIPLPTPPIIPVLPQQFVPPTNVRDCIRLRGLPYAATIEDILDFLGEFATDIRTHGVHMVLNHQGRPSGDAFIQMKSADRAFMAAQKCHKKNMKDRYVEVFQCSA
Show »
MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFC
LCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQVEDMGNIILAMISEPYNHRFSDPERVNYKF
ESGTCSKMELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKATGEDFLKIAGGTSNE
VAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGILFVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVLNRFSSAP
LIPLPTPPIIPVLPQQFVPPTNVRDCIRLRGLPYAATIEDILDFLGEFATDIRTHGVHMVLNHQGRPSGDAFIQMKSADRAFMAAQKCHKKNMKDRYVEVFQCSA
Show »
Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
---|---|---|---|---|---|---|---|---|---|---|---|
Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.