AutismKB 2.0

Evidence Details for EPB41


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Basic Information Top
Gene Symbol:EPB41 ( 4.1R,EL1,HE )
Gene Full Name: erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)
Band: 1p35.3
Quick LinksEntrez ID:2035; OMIM: 130500; Uniprot ID:41_HUMAN; ENSEMBL ID: ENSG00000159023; HGNC ID: 3377
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPB41|2035|nucleotide
ATGACAACAGAGAAGAGTTTAGTGACTGAGGCCGAAAATTCACAGCACCAACAGAAGGAAGAGGGTGAGGAAGCCATAAACTCAGGCCAACAAGAACCTCAGCAG
GAGGAATCTTGTCAAACAGCAGCTGAAGGAGATAATTGGTGTGAACAGAAGCTGAAAGCTTCTAATGGAGACACTCCTACACATGAAGACTTGACCAAGAACAAG
GAGCGGACATCAGAAAGCAGAGGACTTTCACGACTATTCTCCTCGTTTCTCAAAAGGCCCAAATCTCAGGTGTCCGAGGAAGAAGGCAAAGAAGTAGAGTCAGAT
AAAGAAAAAGGTGAAGGAGGTCAGAAAGAGATAGAATTTGGAACCAGTCTTGATGAAGAGATCATTTTAAAGGCCCCAATTGCAGCTCCTGAACCGGAACTCAAA
ACAGACCCATCTTTGGATCTTCATTCATTAAGCAGTGCAGAAACACAGCCTGCTCAGGAAGAACTCAGAGAAGATCCAGATTTTGAAATTAAGGAAGGAGAAGGA
CTTGAAGAGTGCTCCAAAATAGAAGTAAAAGAAGAAAGCCCTCAATCAAAAGCAGAAACAGAATTAAAAGCTTCCCAAAAACCAATCAGAAAACACAGGAACATG
CACTGCAAGGTTTCTTTGTTGGATGACACAGTTTATGAATGTGTTGTGGAGAAACATGCTAAGGGACAAGATTTGCTTAAACGAGTATGTGAGCATCTCAATCTT
TTGGAAGAAGACTATTTTGGTCTAGCCATTTGGGATAACGCAACCTCTAAGACATGGCTGGATTCCGCCAAAGAAATAAAAAAGCAGGTTCGTGGTGTCCCTTGG
AATTTTACATTTAATGTAAAGTTTTATCCACCTGACCCAGCACAGTTAACAGAAGACATAACAAGATATTATTTATGTCTTCAGCTTCGGCAGGACATAGTTGCA
GGACGTCTGCCCTGTTCCTTTGCAACCTTAGCATTATTAGGTTCTTACACCATCCAGTCTGAACTGGGAGACTACGACCCAGAACTCCATGGCGTGGATTATGTT
AGTGATTTTAAACTGGCCCCGAATCAGACCAAGGAACTTGAAGAGAAGGTCATGGAACTGCATAAGTCATACAGGTCCATGACTCCAGCTCAGGCTGACTTGGAG
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>EPB41|2035|protein
MTTEKSLVTEAENSQHQQKEEGEEAINSGQQEPQQEESCQTAAEGDNWCEQKLKASNGDTPTHEDLTKNKERTSESRGLSRLFSSFLKRPKSQVSEEEGKEVESD
KEKGEGGQKEIEFGTSLDEEIILKAPIAAPEPELKTDPSLDLHSLSSAETQPAQEELREDPDFEIKEGEGLEECSKIEVKEESPQSKAETELKASQKPIRKHRNM
HCKVSLLDDTVYECVVEKHAKGQDLLKRVCEHLNLLEEDYFGLAIWDNATSKTWLDSAKEIKKQVRGVPWNFTFNVKFYPPDPAQLTEDITRYYLCLQLRQDIVA
GRLPCSFATLALLGSYTIQSELGDYDPELHGVDYVSDFKLAPNQTKELEEKVMELHKSYRSMTPAQADLEFLENAKKLSMYGVDLHKAKDLEGVDIILGVCSSGL
LVYKDKLRINRFPWPKVLKISYKRSSFFIKIRPGEQEQYESTIGFKLPSYRAAKKLWKVCVEHHTFFRLTSTDTIPKSKFLALGSKFRYSGRTQAQTRQASALID
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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