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