AutismKB 2.0

Evidence Details for PPP1R3C


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Basic Information Top
Gene Symbol:PPP1R3C ( PPP1R5 )
Gene Full Name: protein phosphatase 1, regulatory (inhibitor) subunit 3C
Band: 10q23.32
Quick LinksEntrez ID:5507; OMIM: 602999; Uniprot ID:PPR3C_HUMAN; ENSEMBL ID: ENSG00000119938; HGNC ID: 9293
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP1R3C|5507|nucleotide
ATGAGCTGCACCAGAATGATCCAGGTTTTAGATCCACGTCCTTTGACAAGTTCGGTCATGCCCGTGGATGTGGCCATGAGGCTTTGCTTGGCACATTCACCACCT
GTGAAGAGTTTCCTGGGCCCGTACGATGAATTTCAACGACGACATTTTGTGAATAAATTAAAGCCCCTGAAATCATGTCTCAATATAAAACACAAAGCCAAATCA
CAGAATGACTGGAAGTGCTCACACAACCAAGCCAAGAAGCGCGTTGTGTTTGCTGACTCCAAGGGCCTCTCTCTCACTGCGATCCATGTCTTCTCCGACCTCCCA
GAAGAACCAGCGTGGGATCTGCAGTTTGATCTCTTGGACCTTAATGATATCTCCTCTGCCTTAAAACACCACGAGGAGAAAAACTTGATTTTAGATTTCCCTCAG
CCTTCAACCGATTACTTAAGTTTCCGGAGCCACTTTCAGAAGAACTTTGTCTGTCTGGAGAACTGCTCGTTGCAAGAGCGAACAGTGACAGGGACTGTTAAAGTC
AAAAATGTGAGTTTTGAGAAGAAAGTTCAGATCCGTATCACTTTCGATTCTTGGAAAAACTACACTGACGTAGACTGTGTCTATATGAAAAATGTGTATGGTGGC
ACAGATAGTGATACCTTCTCATTTGCCATTGACTTACCCCCTGTCATTCCAACTGAGCAGAAAATTGAGTTCTGCATTTCTTACCATGCTAATGGGCAAGTCTTT
TGGGACAACAATGATGGTCAGAATTATAGAATTGTTCATGTTCAATGGAAGCCTGATGGGGTGCAGACACAGATGGCACCCCAGGACTGTGCATTCCACCAGACG
TCTCCTAAGACAGAGTTAGAGTCAACAATCTTTGGCAGTCCGAGGCTGGCTAGTGGGCTCTTCCCAGAGTGGCAGAGCTGGGGGAGAATGGAGAACTTGGCCTCT
TATCGATGA

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>PPP1R3C|5507|protein
MSCTRMIQVLDPRPLTSSVMPVDVAMRLCLAHSPPVKSFLGPYDEFQRRHFVNKLKPLKSCLNIKHKAKSQNDWKCSHNQAKKRVVFADSKGLSLTAIHVFSDLP
EEPAWDLQFDLLDLNDISSALKHHEEKNLILDFPQPSTDYLSFRSHFQKNFVCLENCSLQERTVTGTVKVKNVSFEKKVQIRITFDSWKNYTDVDCVYMKNVYGG
TDSDTFSFAIDLPPVIPTEQKIEFCISYHANGQVFWDNNDGQNYRIVHVQWKPDGVQTQMAPQDCAFHQTSPKTELESTIFGSPRLASGLFPEWQSWGRMENLAS
YR

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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