AutismKB 2.0

Evidence Details for EPB41L4A


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Basic Information Top
Gene Symbol:EPB41L4A ( DKFZp566L203,EPB41L4,FLJ38738,NBL4 )
Gene Full Name: erythrocyte membrane protein band 4.1 like 4A
Band: 5q22.1-q22.2
Quick LinksEntrez ID:64097; OMIM: 612141; Uniprot ID:E41LA_HUMAN; ENSEMBL ID: ENSG00000129595; HGNC ID: 13278
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EPB41L4A|64097|nucleotide
ATGGGCTGTTTCTGCGCTGTTCCGGAAGAATTTTACTGCGAAGTTTTGCTCCTGGATGAATCCAAGTTAACCCTTACCACCCAGCAGCAGGGCATCAAGAAGTCA
ACGAAAGGTTCCGTTGTCCTTGACCACGTATTCCATCACGTAAACCTTGTGGAGATAGATTATTTTGGGCTACGTTACTGTGACAGAAGCCATCAGACGTATTGG
CTGGATCCTGCAAAAACCCTTGCTGAACACAAAGAACTGATCAACACTGGACCTCCATATACTTTGTATTTTGGTATTAAATTCTATGCTGAAGATCCATGTAAA
CTTAAAGAAGAAATAACCAGATATCAGTTTTTCTTGCAGGTGAAGCAAGATGTCCTTCAGGGCCGTCTGCCCTGTCCCGTCAACACTGCTGCTCAGCTGGGAGCG
TATGCCATCCAGTCGGAGCTTGGAGATTATGACCCATATAAACATACTGCAGGATATGTATCTGAGTACCGGTTTGTTCCTGATCAGAAGGAAGAACTTGAAGAA
GCCATAGAAAGGATTCATAAAACTCTAATGGGTCAGATTCCTTCTGAGGCTGAGCTGAATTACTTGAGGACTGCCAAATCCCTGGAGATGTATGGCGTTGACCTC
CATCCCGTCTATGGAGAAAACAAGTCTGAGTATTTCTTAGGATTAACTCCGGTTGGTGTTGTTGTGTACAAGAATAAAAAGCAAGTGGGGAAGTATTTCTGGCCT
CGGATTACAAAGGTTCACTTCAAGGAGACTCAATTTGAACTCAGAGTACTGGGAAAAGATTGTAACGAAACCTCATTCTTTTTTGAAGCTCGGAGTAAAACTGCT
TGCAAGCACCTCTGGAAGTGCAGTGTGGAACATCATACATTTTTTAGAATGCCAGAAAATGAATCCAATTCACTGTCAAGAAAACTCAGCAAGTTTGGATCCATA
CGTTATAAGCACCGCTACAGTGGCAGGACAGCTTTGCAAATGAGCCGAGATCTTTCTATTCAGCTTCCCCGGCCTGATCAGAATGTGACAAGAAGTCGAAGCAAG
ACTTACCCTAAGCGAATAGCACAAACACAGCCAGCTGAATCAAACAGCATCAGTAGGATAACTGCAAACATGGAAAATGGAGAAAATGAAGGAACAATTAAAATT
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>EPB41L4A|64097|protein
MGCFCAVPEEFYCEVLLLDESKLTLTTQQQGIKKSTKGSVVLDHVFHHVNLVEIDYFGLRYCDRSHQTYWLDPAKTLAEHKELINTGPPYTLYFGIKFYAEDPCK
LKEEITRYQFFLQVKQDVLQGRLPCPVNTAAQLGAYAIQSELGDYDPYKHTAGYVSEYRFVPDQKEELEEAIERIHKTLMGQIPSEAELNYLRTAKSLEMYGVDL
HPVYGENKSEYFLGLTPVGVVVYKNKKQVGKYFWPRITKVHFKETQFELRVLGKDCNETSFFFEARSKTACKHLWKCSVEHHTFFRMPENESNSLSRKLSKFGSI
RYKHRYSGRTALQMSRDLSIQLPRPDQNVTRSRSKTYPKRIAQTQPAESNSISRITANMENGENEGTIKIIAPSPVKSFKKAKNENSPDTQRSKSHAPWEENGPQ
SGLYNSPSDRTKSPKFPYTRRRNPSCGSDNDSVQPVRRRKAHNSGEDSDLKQRRRSRSRCNTSSGSESENSNREYRKKRNRIRQENDMVDSAPQWEAVLRRQKEK
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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 (0) 0 (1) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top