AutismKB 2.0

Evidence Details for TRPS1


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Basic Information Top
Gene Symbol:TRPS1 ( GC79,LGCR,MGC134928 )
Gene Full Name: trichorhinophalangeal syndrome I
Band: 8q23.3
Quick LinksEntrez ID:7227; OMIM: 604386; Uniprot ID:TRPS1_HUMAN; ENSEMBL ID: ENSG00000104447; HGNC ID: 12340
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TRPS1|7227|nucleotide
ATGCCTTATGAAGTCAATGCTGGGTATGATTTTACAAATATGGTCCGGAAAAAGAACCCCCCTCTGAGAAACGTTGCAAGTGAAGGCGAGGGCCAGATCCTGGAG
CCTATAGGTACAGAAAGCAAGGTATCTGGAAAGAACAAAGAATTTTCTGCAGATCAGATGTCAGAAAATACGGATCAGAGTGATGCTGCAGAACTAAATCATAAG
GAGGAACATAGCTTGCATGTTCAAGATCCATCTTCTAGCAGTAAGAAGGACTTGAAAAGCGCAGTTCTGAGTGAGAAGGCTGGCTTCAATTATGAAAGCCCCAGT
AAGGGAGGAAACTTTCCCTCCTTTCCGCATGATGAGGTGACAGACAGAAATATGTTGGCTTTCTCATCTCCAGCTGCTGGGGGAGTCTGTGAGCCCTTGAAGTCT
CCGCAAAGAGCAGAGGCAGATGACCCTCAAGATATGGCCTGCACCCCCTCAGGGGACTCACTGGAGACAAAGGAAGATCAGAAGATGTCACCAAAGGCTACAGAG
GAAACAGGGCAAGCACAGAGTGGTCAAGCCAATTGTCAAGGTTTGAGCCCAGTTTCAGTGGCCTCAAAAAACCCACAAGTGCCTTCAGATGGGGGTGTAAGACTG
AATAAATCCAAAACTGACTTACTGGTGAATGACAACCCAGACCCGGCACCTCTGTCTCCAGAGCTTCAGGACTTTAAATGCAATATCTGTGGATATGGTTACTAC
GGCAACGACCCCACAGATCTGATTAAGCACTTCCGAAAGTATCACTTAGGACTGCATAACCGCACCAGGCAAGATGCTGAGCTGGACAGCAAAATCTTGGCCCTT
CATAACATGGTGCAGTTCAGCCATTCCAAAGACTTCCAGAAGGTCAACCGTTCTGTGTTTTCTGGTGTGCTGCAGGACATCAATTCTTCAAGGCCTGTTTTACTA
AATGGGACCTATGATGTGCAGGTGACTTCAGGTGGAACATTCATTGGCATTGGACGGAAAACACCAGATTGCCAAGGGAACACCAAGTATTTCCGCTGTAAATTC
TGCAATTTCACTTATATGGGCAACTCATCCACCGAATTAGAACAACATTTTCTTCAGACTCACCCAAACAAAATAAAAGCTTCTCTCCCCTCCTCTGAGGTTGCA
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>TRPS1|7227|protein
MPYEVNAGYDFTNMVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSSSKKDLKSAVLSEKAGFNYESPS
KGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMACTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRL
NKSKTDLLVNDNPDPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQKVNRSVFSGVLQDINSSRPVLL
NGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTELEQHFLQTHPNKIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGD
DTPVGYSVPIKPLDSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSVINQNDLAKSSEGETMTKTDKSSSGAKKKDFSS
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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 (1) 0 (0) 0 (0) 0 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top