AutismKB 2.0

Evidence Details for P4HA1


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Basic Information Top
Gene Symbol:P4HA1 ( P4HA )
Gene Full Name: prolyl 4-hydroxylase, alpha polypeptide I
Band: 10q22.1
Quick LinksEntrez ID:5033; OMIM: 176710; Uniprot ID:P4HA1_HUMAN; ENSEMBL ID: ENSG00000122884; HGNC ID: 8546
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>P4HA1|5033|nucleotide
ATGATCTGGTATATATTAATTATAGGAATTCTGCTTCCCCAGTCTTTGGCTCATCCAGGCTTTTTTACTTCAATTGGTCAGATGACTGATTTGATCCATACTGAG
AAAGATCTGGTGACTTCTCTGAAAGATTATATTAAGGCAGAAGAGGACAAGTTAGAACAAATAAAAAAATGGGCAGAGAAGTTAGATCGGCTAACTAGTACAGCG
ACAAAAGATCCAGAAGGATTTGTTGGGCATCCAGTAAATGCATTCAAATTAATGAAACGTCTGAATACTGAGTGGAGTGAGTTGGAGAATCTGGTCCTTAAGGAT
ATGTCAGATGGCTTTATCTCTAACCTAACCATTCAGAGACAGTACTTTCCTAATGATGAAGATCAGGTTGGGGCAGCCAAAGCTCTGTTACGTCTCCAGGATACC
TACAATTTGGATACAGATACCATCTCAAAGGGTAATCTTCCAGGAGTGAAACACAAATCTTTTCTAACGGCTGAGGACTGCTTTGAGTTGGGCAAAGTGGCCTAT
ACAGAAGCAGATTATTACCATACGGAACTGTGGATGGAACAAGCCCTAAGGCAACTGGATGAAGGCGAGATTTCTACCATAGATAAAGTCTCTGTTCTAGATTAT
TTGAGCTATGCGGTATATCAGCAGGGAGACCTGGATAAGGCACTTTTGCTCACAAAGAAGCTTCTTGAACTAGATCCTGAACATCAGAGAGCTAATGGTAACTTA
AAATATTTTGAGTATATAATGGCTAAAGAAAAAGATGTCAATAAGTCTGCTTCAGATGACCAATCTGATCAGAAAACTACACCAAAGAAAAAAGGGGTTGCTGTG
GATTACCTGCCAGAGAGACAGAAGTACGAAATGCTGTGCCGTGGGGAGGGTATCAAAATGACCCCTCGGAGACAGAAAAAACTCTTTTGCCGCTACCATGATGGA
AACCGTAATCCTAAATTTATTCTGGCTCCAGCTAAACAGGAGGATGAATGGGACAAGCCTCGTATTATTCGCTTCCATGATATTATTTCTGATGCAGAAATTGAA
ATCGTCAAAGACCTAGCAAAACCAAGGCTGAGCCGAGCTACAGTACATGACCCTGAGACTGGAAAATTGACCACAGCACAGTACAGAGTATCTAAGAGTGCCTGG
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>P4HA1|5033|protein
MIWYILIIGILLPQSLAHPGFFTSIGQMTDLIHTEKDLVTSLKDYIKAEEDKLEQIKKWAEKLDRLTSTATKDPEGFVGHPVNAFKLMKRLNTEWSELENLVLKD
MSDGFISNLTIQRQYFPNDEDQVGAAKALLRLQDTYNLDTDTISKGNLPGVKHKSFLTAEDCFELGKVAYTEADYYHTELWMEQALRQLDEGEISTIDKVSVLDY
LSYAVYQQGDLDKALLLTKKLLELDPEHQRANGNLKYFEYIMAKEKDVNKSASDDQSDQKTTPKKKGVAVDYLPERQKYEMLCRGEGIKMTPRRQKKLFCRYHDG
NRNPKFILAPAKQEDEWDKPRIIRFHDIISDAEIEIVKDLAKPRLSRATVHDPETGKLTTAQYRVSKSAWLSGYENPVVSRINMRIQDLTGLDVSTAEELQVANY
GVGGQYEPHFDFARKDEPDAFKELGTGNRIATWLFYMSDVSAGGATVFPEVGASVWPKKGTAVFWYNLFASGEGDYSTRHAACPVLVGNKWVSNKWLHERGQEFR
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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) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top