AutismKB 2.0

Evidence Details for EPB41L3


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Basic Information Top
Gene Symbol:EPB41L3 ( 4.1B,DAL-1,DAL1,FLJ37633,KIAA0987 )
Gene Full Name: erythrocyte membrane protein band 4.1-like 3
Band: 18p11.31
Quick LinksEntrez ID:23136; OMIM: 605331; Uniprot ID:E41L3_HUMAN; ENSEMBL ID: ENSG00000082397; HGNC ID: 3380
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPB41L3|23136|nucleotide
ATGACGACCGAATCTGGATCAGACTCGGAATCCAAGCCGGACCAGGAGGCCGAGCCCCAGGAGGCGGCGGGGGCGCAGGGGCGCGCGGGGGCGCCCGTGCCGGAG
CCGCCCAAGGAGGAGCAGCAGCAGGCCCTGGAGCAGTTCGCCGCCGCTGCAGCGCACAGCACCCCGGTGCGGAGGGAGGTCACTGACAAGGAACAGGAGTTTGCT
GCCAGGGCTGCAAAACAGCTCGAATATCAGCAATTAGAAGACGATAAACTTTCTCAGAAATCATCTAGCAGTAAACTCTCTCGGTCTCCATTAAAGATTGTCAAA
AAGCCTAAAAGCATGCAGTGCAAAGTGATACTTCTCGATGGATCAGAATATACCTGTGATGTAGAGAAACGCTCCAGAGGACAAGTGCTGTTTGATAAAGTGTGT
GAACACTTGAACTTGCTAGAGAAAGACTACTTTGGGCTTACGTATCGAGATGCTGAAAACCAGAAGAATTGGTTGGACCCTGCTAAGGAAATAAAAAAACAGGTT
CGAAGTGGTGCTTGGCACTTTTCATTTAATGTGAAATTTTATCCACCAGACCCTGCCCAACTATCTGAAGATATCACCAGGTACTACCTCTGCTTGCAGTTGCGA
GATGACATCGTGTCCGGAAGGCTGCCCTGCTCCTTTGTTACCCTGGCCTTGCTGGGCTCCTACACTGTCCAGTCAGAGCTCGGAGACTATGACCCAGATGAATGT
GGGAGCGATTACATTAGTGAGTTCCGCTTTGCACCAAACCACACTAAAGAACTGGAAGACAAAGTGATCGAGCTGCACAAGAGCCACAGAGGAATGACGCCAGCA
GAAGCAGAGATGCATTTCTTGGAAAATGCCAAAAAATTATCAATGTATGGGGTAGATTTACATCATGCTAAGGACTCAGAAGGGGTAGAAATTATGTTAGGAGTT
TGTGCAAGTGGTCTGTTGATATATCGCGACCGGCTGCGAATAAACAGATTTGCCTGGCCCAAGGTTCTAAAGATTTCATACAAACGGAACAACTTTTACATTAAG
ATCCGGCCGGGAGAGTTTGAACAATTTGAAAGCACCATTGGGTTTAAGCTGCCAAACCATCGAGCTGCCAAGCGTTTATGGAAAGTATGTGTTGAGCATCATACA
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>EPB41L3|23136|protein
MTTESGSDSESKPDQEAEPQEAAGAQGRAGAPVPEPPKEEQQQALEQFAAAAAHSTPVRREVTDKEQEFAARAAKQLEYQQLEDDKLSQKSSSSKLSRSPLKIVK
KPKSMQCKVILLDGSEYTCDVEKRSRGQVLFDKVCEHLNLLEKDYFGLTYRDAENQKNWLDPAKEIKKQVRSGAWHFSFNVKFYPPDPAQLSEDITRYYLCLQLR
DDIVSGRLPCSFVTLALLGSYTVQSELGDYDPDECGSDYISEFRFAPNHTKELEDKVIELHKSHRGMTPAEAEMHFLENAKKLSMYGVDLHHAKDSEGVEIMLGV
CASGLLIYRDRLRINRFAWPKVLKISYKRNNFYIKIRPGEFEQFESTIGFKLPNHRAAKRLWKVCVEHHTFFRLLLPEAPPKKFLTLGSKFRYSGRTQAQTRRAS
ALIDRPAPYFERSSSKRYTMSRSLDGEVGTGQYATTKGISQTNLITTVTPEKKAEEERDEEEDKRRKGEEVTPISAIRHEGKSPGLGTDSCPLSPPSTHCAPTSP
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top