AutismKB 2.0

Evidence Details for PTCD3


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Basic Information Top
Gene Symbol:PTCD3 ( DKFZp666K071,FLJ20758 )
Gene Full Name: Pentatricopeptide repeat domain 3
Band: 2p11.2
Quick LinksEntrez ID:55037; OMIM: NA; Uniprot ID:PTCD3_HUMAN; ENSEMBL ID: ENSG00000132300; HGNC ID: 24717
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTCD3|55037|nucleotide
ATGGCGGTTGTATCTGCTGTTCGCTGGCTGGGCCTCCGCAGCAGGCTTGGCCAGCCGCTGACGGGTCGGCGGGCGGGTTTGTGTGAACAGGCACGCAGCTGCAGA
TTTTATTCTGGTAGTGCAACCCTCTCAAAGGTTGAAGGAACTGATGTAACAGGGATTGAAGAAGTAGTAATTCCAAAAAAGAAAACTTGGGATAAAGTAGCCGTT
CTTCAGGCACTTGCATCCACAGTAAACAGGGATACCACAGCTGTGCCTTATGTGTTTCAAGATGATCCTTACCTTATGCCAGCATCATCTTTGGAATCTCGTTCA
TTTTTACTGGCAAAGAAATCCGGGGAGAATGTGGCCAAGTTTATTATTAATTCATACCCCAAATATTTTCAGAAGGACATAGCTGAACCTCATATACCGTGTTTA
ATGCCTGAGTACTTTGAACCTCAGATCAAAGACATAAGTGAAGCCGCCCTGAAGGAACGAATTGAGCTCAGAAAAGTCAAAGCCTCTGTGGACATGTTTGATCAG
CTTTTGCAAGCAGGAACCACTGTGTCTCTTGAAACAACAAATAGTCTCTTGGATTTATTGTGTTACTATGGTGACCAGGAGCCCTCAACTGATTACCATTTTCAA
CAAACTGGACAGTCAGAAGCATTGGAAGAGGAAAATGATGAGACATCTAGGAGGAAAGCTGGTCATCAGTTTGGAGTTACATGGCGAGCAAAAAACAACGCTGAG
AGAATCTTTTCTCTAATGCCAGAGAAAAATGAACATTCCTATTGCACAATGATCCGAGGAATGGTGAAGCACCGAGCTTATGAGCAGGCATTAAACTTGTACACT
GAGTTACTAAACAACAGACTCCATGCTGATGTATACACATTTAATGCATTGATTGAAGCAACAGTATGTGCGATAAATGAGAAATTTGAGGAAAAATGGAGTAAA
ATACTGGAGCTGCTAAGACACATGGTTGCACAGAAGGTGAAACCAAATCTTCAGACTTTTAATACCATTCTGAAATGTCTCCGAAGATTTCATGTGTTTGCAAGA
TCGCCAGCCTTACAGGTTTTACGTGAAATGAAAGCCATTGGAATAGAACCCTCGCTTGCAACATATCACCATATTATTCGCCTGTTTGATCAACCTGGAGACCCT
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>PTCD3|55037|protein
MAVVSAVRWLGLRSRLGQPLTGRRAGLCEQARSCRFYSGSATLSKVEGTDVTGIEEVVIPKKKTWDKVAVLQALASTVNRDTTAVPYVFQDDPYLMPASSLESRS
FLLAKKSGENVAKFIINSYPKYFQKDIAEPHIPCLMPEYFEPQIKDISEAALKERIELRKVKASVDMFDQLLQAGTTVSLETTNSLLDLLCYYGDQEPSTDYHFQ
QTGQSEALEEENDETSRRKAGHQFGVTWRAKNNAERIFSLMPEKNEHSYCTMIRGMVKHRAYEQALNLYTELLNNRLHADVYTFNALIEATVCAINEKFEEKWSK
ILELLRHMVAQKVKPNLQTFNTILKCLRRFHVFARSPALQVLREMKAIGIEPSLATYHHIIRLFDQPGDPLKRSSFIIYDIMNELMGKRFSPKDPDDDKFFQSAM
SICSSLRDLELAYQVHGLLKTGDNWKFIGPDQHRNFYYSKFFDLICLMEQIDVTLKWYEDLIPSAYFPHSQTMIHLLQALDVANRLEVIPKIWKDSKEYGHTFRS
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top