AutismKB 2.0

Evidence Details for ESRP1


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Basic Information Top
Gene Symbol:ESRP1 ( FLJ20171,RBM35A,RMB35A )
Gene Full Name: epithelial splicing regulatory protein 1
Band: 8q22.1
Quick LinksEntrez 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
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>ESRP1|54845|protein
MTASPDYLVVLFGITAGATGAKLGSDEKELILLFWKVVDLANKKVGQLHEVLVRPDQLELTEDCKEETKIDVESLSSASQLDQALRQFNQSVSNELNIGVGTSFC
LCTDGQLHVRQILHPEASKKNVLLPECFYSFFDLRKEFKKCCPGSPDIDKLDVATMTEYLNFEKSSSVSRYGASQVEDMGNIILAMISEPYNHRFSDPERVNYKF
ESGTCSKMELIDDNTVVRARGLPWQSSDQDIARFFKGLNIAKGGAALCLNAQGRRNGEALVRFVSEEHRDLALQRHKHHMGTRYIEVYKATGEDFLKIAGGTSNE
VAQFLSKENQVIVRMRGLPFTATAEEVVAFFGQHCPITGGKEGILFVTYPDGRPTGDAFVLFACEEYAQNALRKHKDLLGKRYIELFRSTAAEVQQVLNRFSSAP
LIPLPTPPIIPVLPQQFVPPTNVRDCIRLRGLPYAATIEDILDFLGEFATDIRTHGVHMVLNHQGRPSGDAFIQMKSADRAFMAAQKCHKKNMKDRYVEVFQCSA
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Evidence summary Top

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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