AutismKB 2.0

Evidence Details for PITPNM3


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Basic Information Top
Gene Symbol:PITPNM3 ( CORD5,MGC157740,MGC157741,NIR1,RDGBA3 )
Gene Full Name: PITPNM family member 3
Band: 17p13.2-p13.1
Quick LinksEntrez ID:83394; OMIM: 608921; Uniprot ID:PITM3_HUMAN; ENSEMBL ID: ENSG00000091622; HGNC ID: 21043
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PITPNM3|83394|nucleotide
ATGGCCAAGGCGGGCCGTGCAGGTGGTCCTCCCCCGGGCGGCGGTGCCCCCTGGCACCTTCGAAATGTCCTCAGTGACTCTGTGGAGAGCTCAGATGATGAATTC
TTTGATGCCAGAGGAGAAGGGACCGCGCCGTGCACATCCAGCATCCTCCAGGAGAAGCAGCGAGAACTGTACCGGGTTTCCTTGAGAAGACAGAGGTTCCCAGCC
CAGGGAAGCATCGAGATCCACGAAGACAGCGAGGAAGGCTGCCCGCAGCGCTCCTGCAAGACACATGTCCTCCTGCTGGTCCTGCATGGGGGAAACATCCTGGAC
ACGGGTGCCGGGGACCCGTCCTGCAAGGCAGCCGACATCCACACCTTCAGCTCCGTGCTGGAGAAGGTCACACGAGCCCATTTCCCTGCTGCCCTGGGCCACATC
CTCATCAAGTTCGTCCCCTGTCCTGCCATCTGCTCTGAGGCTTTCTCGCTTGTCTCTCACCTGAACCCCTACAGCCACGATGAGGGCTGCCTCAGCAGCAGCCAG
GACCACGTCCCTCTGGCCGCCCTTCCCCTGTTGGCCATCTCCTCCCCGCAGTACCAGGATGCTGTCGCCACCGTCATCGAGCGAGCCAACCAGGTCTACAGAGAG
TTCCTGAAGTCCTCTGATGGGATTGGCTTCAGTGGGCAGGTGTGTCTCATCGGGGACTGTGTGGGGGGCCTCCTGGCCTTCGATGCCATCTGCTACAGTGCGGGG
CCCTCAGGGGACAGCCCTGCCAGCAGCAGCCGGAAGGGGAGCATCAGCAGCACCCAGGACACCCCAGTCGCGGTGGAGGAAGATTGCAGCCTGGCCAGCAGCAAG
CGTCTCAGCAAAAGCAACATTGACATCTCCAGTGGGTTGGAGGATGAGGAGCCCAAGAGGCCGTTGCCGCGGAAACAGAGCGACTCCTCCACCTATGACTGCGAG
GCCATCACCCAGCACCATGCCTTCCTCTCAAGCATCCACTCCAGCGTGCTAAAGGATGAGTCTGAGACCCCGGCGGCTGGGGGGCCGCAGCTCCCTGAGGTCAGC
CTGGGCCGCTTTGACTTCGATGTGTCCGACTTCTTCCTCTTCGGCTCGCCACTGGGCCTGGTCCTGGCCATGCGGAGGACGGTGCTGCCTGGGCTGGACGGCTTC
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>PITPNM3|83394|protein
MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDARGEGTAPCTSSILQEKQRELYRVSLRRQRFPAQGSIEIHEDSEEGCPQRSCKTHVLLLVLHGGNILD
TGAGDPSCKAADIHTFSSVLEKVTRAHFPAALGHILIKFVPCPAICSEAFSLVSHLNPYSHDEGCLSSSQDHVPLAALPLLAISSPQYQDAVATVIERANQVYRE
FLKSSDGIGFSGQVCLIGDCVGGLLAFDAICYSAGPSGDSPASSSRKGSISSTQDTPVAVEEDCSLASSKRLSKSNIDISSGLEDEEPKRPLPRKQSDSSTYDCE
AITQHHAFLSSIHSSVLKDESETPAAGGPQLPEVSLGRFDFDVSDFFLFGSPLGLVLAMRRTVLPGLDGFQVRPACSQVYSFFHCADPSASRLEPLLEPKFHLVP
PVSVPRYQRFPLGDGQSLLLADALHTHSPLFLEGSSRDSPPLLDAPASPPQASRFQRPGRRMSEGSSHSESSESSDSMAPVGASRITAKWWGSKRIDYALYCPDV
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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 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 2 (6)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bremer, 2011 - aCGHASD - - - - 223 - 223
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Risch, 1999 USA microsatellite-based genomic screenPDD 90 - 90 - - - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018