AutismKB 2.0

Evidence Details for DFNA5


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Basic Information Top
Gene Symbol:DFNA5 ( ICERE-1 )
Gene Full Name: deafness, autosomal dominant 5
Band: 7p15
Quick LinksEntrez ID:1687; OMIM: 608798; Uniprot ID:DFNA5_HUMAN; ENSEMBL ID: ENSG00000105928; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DFNA5|1687|nucleotide
ATGTTTGCCAAAGCAACCAGGAATTTTCTTAGAGAAGTTGATGCTGATGGTGACCTGATTGCAGTATCAAATCTGAATGACTCTGATAAGTTACAGCTTCTAAGT
CTGGTGACAAAAAAGAAGAGATTCTGGTGCTGGCAGAGACCCAAGTACCAGTTTTTATCCCTCACCCTTGGCGATGTACTCATAGAAGACCAATTTCCGAGTCCA
GTGGTCGTGGAGTCGGACTTTGTGAAATACGAGGGCAAGTTTGCAAACCACGTGAGTGGAACCCTGGAGACTGCACTGGGGAAGGTCAAGCTGAACCTGGGGGGC
AGCAGCCGCGTAGAGAGCCAGTCTTCATTTGGAACCCTGAGGAAGCAGGAGGTGGATTTGCAGCAGCTCATCAGAGACTCTGCCGAGAGAACAATAAATCTGAGA
AACCCTGTGCTCCAGCAGGTGCTGGAAGGAAGGAATGAGGTCCTGTGCGTTTTGACACAGAAGATCACGACGATGCAGAAGTGTGTGATCTCTGAGCACATGCAG
GTCGAGGAGAAGTGTGGTGGCATCGTGGGCATCCAGACCAAGACGGTGCAGGTGTCAGCGACGGAGGATGGGAATGTCACCAAGGACTCCAACGTGGTGCTGGAG
ATCCCAGCTGCCACCACCATTGCCTACGGTGTCATTGAGTTATACGTGAAACTGGACGGCCAGTTCGAGTTCTGCCTTCTCCGAGGGAAGCAAGGTGGCTTCGAG
AACAAGAAGAGAATTGACTCTGTCTACCTGGACCCCCTGGTCTTTCGAGAGTTTGCATTCATAGACATGCCAGATGCTGCGCATGGGATATCTTCCCAGGATGGA
CCATTAAGTGTTTTAAAGCAAGCGACCCTGCTCCTGGAGAGGAATTTCCATCCATTTGCGGAGCTGCCTGAGCCACAACAGACAGCTTTGAGTGACATCTTCCAG
GCGGTCCTATTTGATGATGAACTACTCATGGTCCTGGAACCAGTGTGCGATGACCTGGTCAGCGGCCTCTCGCCCACAGTGGCGGTGCTGGGGGAGCTGAAGCCC
CGGCAGCAGCAGGACCTTGTGGCCTTCCTGCAGCTGGTGGGGTGCAGCTTACAGGGTGGGTGTCCGGGCCCCGAGGATGCAGGCAGCAAGCAGCTGTTTATGACA
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>DFNA5|1687|protein
MFAKATRNFLREVDADGDLIAVSNLNDSDKLQLLSLVTKKKRFWCWQRPKYQFLSLTLGDVLIEDQFPSPVVVESDFVKYEGKFANHVSGTLETALGKVKLNLGG
SSRVESQSSFGTLRKQEVDLQQLIRDSAERTINLRNPVLQQVLEGRNEVLCVLTQKITTMQKCVISEHMQVEEKCGGIVGIQTKTVQVSATEDGNVTKDSNVVLE
IPAATTIAYGVIELYVKLDGQFEFCLLRGKQGGFENKKRIDSVYLDPLVFREFAFIDMPDAAHGISSQDGPLSVLKQATLLLERNFHPFAELPEPQQTALSDIFQ
AVLFDDELLMVLEPVCDDLVSGLSPTVAVLGELKPRQQQDLVAFLQLVGCSLQGGCPGPEDAGSKQLFMTAYFLVSALAEMPDSAAALLGTCCKLQIIPTLCHLL
RALSDDGVSDLEDPTLTPLKDTERFGIVQRLFASADISLERLKSSVKAVILKDSKVFPLLLCITLNGLCALGREHS
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top