AutismKB 2.0

Evidence Details for MYBPHL


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Basic Information Top
Gene Symbol:MYBPHL ( - )
Gene Full Name: myosin binding protein H-like
Band: 1p13.3
Quick LinksEntrez ID:343263; OMIM: NA; Uniprot ID:MBPHL_HUMAN; ENSEMBL ID: ENSG00000221986; HGNC ID: 30434
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYBPHL|343263|nucleotide
ATGGAGGCAGCCACAGCTCCGGAGGTGGCCGCAGGATCCAAGCTGAAGGTGAAAGAAGCCAGCCCAGCGGATGCTGAACCACCCCAGGCTTCACCTGGACAGGGG
GCTGGCAGCCCCACTCCCCAGCTCCTGCCCCCTATAGAAGAGCACCCCAAGATCTGGCTACCTCGGGCCCTGAGGCAGACCTACATCCGGAAGGTTGGGGACACA
GTGAACCTACTAATCCCATTCCAGGGCAAGCCCAAACCTCAAGCCATCTGGACACATGATGGCTGTGCCTTGGACACCAGGCGTGTGAGTGTGCGGAATGGGGAG
CAAGACTCCATCCTCTTCATCCGAGAAGCCCAACGTGCTGACTCAGGTCGCTACCAACTCCGCGTGCAGCTGGGTGGGCTGGAGGCCACCGCCACCATTGACATC
CTGGTGATTGAGAGGCCAGGCCCTCCTCAGAGTATTAAGCTGGTGGACGTTTGGGGCTTCAGCGCTACACTGGAATGGACACCGCCCCAAGATACGGGGAATACA
GCACTTCTGGGATACACGGTGCAGAAGGCTGACACAAAATCCGGGCTGTGGTTCACGGTGCTGGAGCACTATCACCGCACCAGCTGCATCGTCTCTGACCTCATC
ATCGGCAACTCCTATGCCTTCCGTGTCTTTGCTGAAAACCAGTGCGGACTCAGTGAAACAGCCCCCATCACTACGGACCTCGCCCACATCCAGAAAGCAGCTACT
GTTTACAAGACCAAGGGGTTTGCCCAACGAGACTTCTCTGAAGCCCCAAAGTTTACCCAGCCTCTGGCCGACTGCACTACAGTCACCGGCTATAATACCCAGCTC
TTCTGCTGTGTCCGCGCCTCTCCCCGGCCCAAGATCATCTGGCTGAAGAACAAGATGGATATCCAAGGCAACCCTAAGTACAGAGCCCTGACTCACCTGGGAATC
TGCTCCCTAGAGATCCGCAAGCCGGGTCCCTTTGATGGAGGCATCTATACCTGCAAGGCGGTGAACCCCCTAGGGGAGGCATCTGTGGACTGTCGGGTGGATGTG
AAAGTTCCTAATTGA
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>MYBPHL|343263|protein
MEAATAPEVAAGSKLKVKEASPADAEPPQASPGQGAGSPTPQLLPPIEEHPKIWLPRALRQTYIRKVGDTVNLLIPFQGKPKPQAIWTHDGCALDTRRVSVRNGE
QDSILFIREAQRADSGRYQLRVQLGGLEATATIDILVIERPGPPQSIKLVDVWGFSATLEWTPPQDTGNTALLGYTVQKADTKSGLWFTVLEHYHRTSCIVSDLI
IGNSYAFRVFAENQCGLSETAPITTDLAHIQKAATVYKTKGFAQRDFSEAPKFTQPLADCTTVTGYNTQLFCCVRASPRPKIIWLKNKMDIQGNPKYRALTHLGI
CSLEIRKPGPFDGGIYTCKAVNPLGEASVDCRVDVKVPN

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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 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top