AutismKB 2.0

Evidence Details for HEPHL1


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Basic Information Top
Gene Symbol:HEPHL1 ( DKFZp686F22190 )
Gene Full Name: hephaestin-like 1
Band: 11q21
Quick LinksEntrez ID:341208; OMIM: NA; Uniprot ID:HPHL1_HUMAN; ENSEMBL ID: ENSG00000181333; HGNC ID: 30477
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HEPHL1|341208|nucleotide
ATGCCTCGGAAGCAGCCAGCTGGCTGCATCTTTCTCCTCACATTCCTGGGTCTGTCTGGGCTGGTTGGCACAGTTACCAGAACGTACTACATTGGGATTGTGGAA
GAATACTGGAACTATGTACCCCAAGGGAAGAATGTTATTACTGGGAAAAGTTTCACAGAAGACAAACTTGCAACCTTATTTCTCGAAAGAGGGCCCAACAGGATA
GGCAGTATTTACAAAAAGGCTGTTTACAGACGCTTCACGGATGGAACCTACTCCATAGAGATCCCCAAACCTCCCTGGCTTGGATTCCTGGGCCCCATCTTGAGG
GCCGAAGTGGGTGATGTGATTGTCATTCATTTAAAGAACTTTGCTTCTCGACCTTACTCTCTGCATCCACATGGCGTTTTCTACAACAAAGATTCAGAAGGAGCC
CTATACCCAGATGGAACATCTGGAAGGAACAAAAATGATGACATGGTTCCTCCTGGGAAAAACTACACCTACGTCTGGCCGGTGAGAGAAGAATATGCACCTACT
CCAGCCGATGCCAACTGCCTGACCTGGGTGTACCATTCGCACATCGACGCCCCAAAGGACATCTGCTCTGGGCTAATTGGGCCCCTGCTGGTCTGCAAGGAAGGT
ATCCTGAATAGATATTCAGGGACACGGAATGATGTGGATCGAGAGTTTGTTATAATGTTTACTCTTGTGGATGAGAATCAAAGCTGGTACCTCAATGAAAATATC
AAACATTTCTGCACCAACCCTGATTCAGTTGACAAGAAAGATGCTGTTTTCCAGAGGAGTAACAAAATGCATGCCCTCAATGGATACCTCTTCGGAAACTTCCCG
GAGCCTGATATGTGTGTTGGAGAATCTGTGTCCTGGCACCTATTTGGAATGGGGAATGAAATAGACATCCATTCTATCTATTTCTATGGTAACACCTTCATCAGC
AGAGGGCATCGGACTGATGTCGTCAACCTGTTCCCAGCCACCTTCCTTACAACAGAAATGATAGCCGAGAATCCTGGGAAGTGGATGATAACCTGCCAGGTCAGC
GACCACCTACAAGCTGGTATGCTGGGGCAATACAATGTTGATAACTGCAAAAGTGATATTTTCTACCCCAAGATGAAGGGTCAACAGAGGCGCTACTTTATAGCA
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>HEPHL1|341208|protein
MPRKQPAGCIFLLTFLGLSGLVGTVTRTYYIGIVEEYWNYVPQGKNVITGKSFTEDKLATLFLERGPNRIGSIYKKAVYRRFTDGTYSIEIPKPPWLGFLGPILR
AEVGDVIVIHLKNFASRPYSLHPHGVFYNKDSEGALYPDGTSGRNKNDDMVPPGKNYTYVWPVREEYAPTPADANCLTWVYHSHIDAPKDICSGLIGPLLVCKEG
ILNRYSGTRNDVDREFVIMFTLVDENQSWYLNENIKHFCTNPDSVDKKDAVFQRSNKMHALNGYLFGNFPEPDMCVGESVSWHLFGMGNEIDIHSIYFYGNTFIS
RGHRTDVVNLFPATFLTTEMIAENPGKWMITCQVSDHLQAGMLGQYNVDNCKSDIFYPKMKGQQRRYFIAAEKILWDYAPQGYNKFSGLPLNASGSDSDLYFTQG
DNRIGGKYWKVRYTEFVDATFTKRKRLSAEEAHLGILGPVIKAEVGDTLLVTFANKADKVYSILPHGVIYDKASDAAPNLDGFVKPGAHVKPGETFTYKWTVPES
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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 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top