AutismKB 2.0

Evidence Details for ANKRD30A


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Basic Information Top
Gene Symbol:ANKRD30A ( NY-BR-1 )
Gene Full Name: ankyrin repeat domain 30A
Band: 10p11.21
Quick LinksEntrez ID:91074; OMIM: 610856; Uniprot ID:AN30A_HUMAN; ENSEMBL ID: ENSG00000148513; HGNC ID: 17234
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANKRD30A|91074|nucleotide
ATGACAAAGAGGAAGAAGACCATCAACCTTAATATACAAGACGCCCAGAAGAGGACTGCTCTACACTGGGCCTGTGTCAATGGCCATGAGGAAGTAGTAACATTT
CTGGTAGACAGAAAGTGCCAGCTTGACGTCCTTGATGGCGAACACAGGACACCTCTGATGAAGGCTCTACAATGCCATCAGGAGGCTTGTGCAAATATTCTGATA
GATTCTGGTGCCGATATAAATCTCGTAGATGTGTATGGCAACACGGCTCTCCATTATGCTGTTTATAGTGAGATTTTGTCAGTGGTGGCAAAACTGCTGTCCCAT
GGTGCAGTCATCGAAGTGCACAACAAGGCTAGCCTCACACCACTTTTACTATCCATAACGAAAAGAAGTGAGCAAATTGTGGAATTTTTGCTGATAAAAAATGCA
AATGCGAATGCAGTTAATAAGTATAAATGCACAGCCCTCATGCTTGCTGTATGTCATGGATCATCAGAGATAGTTGGCATGCTTCTTCAGCAAAATGTTGACGTC
TTTGCTGCAGATATATGTGGAGTAACTGCAGAACATTATGCTGTTACTTGTGGATTTCATCACATTCATGAACAAATTATGGAATATATACGAAAATTATCTAAA
AATCATCAAAATACCAATCCAGAAGGAACATCTGCAGGAACACCTGATGAGGCTGCACCCTTGGCGGAAAGAACACCTGACACAGCTGAAAGCTTGGTGGAAAAA
ACACCTGATGAGGCTGCACCCTTGGTGGAAAGAACACCTGACACGGCTGAAAGCTTGGTGGAAAAAACACCTGATGAGGCTGCATCCTTGGTGGAGGGAACATCT
GACAAAATTCAATGTTTGGAGAAAGCGACATCTGGAAAGTTCGAACAGTCAGCAGAAGAAACACCTAGGGAAATTACGAGTCCTGCAAAAGAAACATCTGAGAAA
TTTACGTGGCCAGCAAAAGGAAGACCTAGGAAGATCGCATGGGAGAAAAAAGAAGACACACCTAGGGAAATTATGAGTCCCGCAAAAGAAACATCTGAGAAATTT
ACGTGGGCAGCAAAAGGAAGACCTAGGAAGATCGCATGGGAGAAAAAAGAAACACCTGTAAAGACTGGATGCGTGGCAAGAGTAACATCTAATAAAACTAAAGTT
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>ANKRD30A|91074|protein
MTKRKKTINLNIQDAQKRTALHWACVNGHEEVVTFLVDRKCQLDVLDGEHRTPLMKALQCHQEACANILIDSGADINLVDVYGNTALHYAVYSEILSVVAKLLSH
GAVIEVHNKASLTPLLLSITKRSEQIVEFLLIKNANANAVNKYKCTALMLAVCHGSSEIVGMLLQQNVDVFAADICGVTAEHYAVTCGFHHIHEQIMEYIRKLSK
NHQNTNPEGTSAGTPDEAAPLAERTPDTAESLVEKTPDEAAPLVERTPDTAESLVEKTPDEAASLVEGTSDKIQCLEKATSGKFEQSAEETPREITSPAKETSEK
FTWPAKGRPRKIAWEKKEDTPREIMSPAKETSEKFTWAAKGRPRKIAWEKKETPVKTGCVARVTSNKTKVLEKGRSKMIACPTKESSTKASANDQRFPSESKQEE
DEEYSCDSRSLFESSAKIQVCIPESIYQKVMEINREVEEPPKKPSAFKPAIEMQNSVPNKAFELKNEQTLRADPMFPPESKQKDYEENSWDSESLCETVSQKDVC
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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 (2) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2) 0 (0) 2 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top