AutismKB 2.0

Evidence Details for TMPRSS2


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Basic Information Top
Gene Symbol:TMPRSS2 ( FLJ41954,PP9284,PRSS10 )
Gene Full Name: transmembrane protease, serine 2
Band: 21q22.3
Quick LinksEntrez ID:7113; OMIM: 602060; Uniprot ID:TMPS2_HUMAN; ENSEMBL ID: ENSG00000184012; HGNC ID: 11876
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TMPRSS2|7113|nucleotide
ATGCCCCCTGCCCCGCCCGGAGGTGAAAGCGGGTGTGAGGAGCGCGGCGCGGCAGGTCATATTGAACATTCCAGATACCTATCATTACTCGATGCTGTTGATAAC
AGCAAGATGGCTTTGAACTCAGGGTCACCACCAGCTATTGGACCTTACTATGAAAACCATGGATACCAACCGGAAAACCCCTATCCCGCACAGCCCACTGTGGTC
CCCACTGTCTACGAGGTGCATCCGGCTCAGTACTACCCGTCCCCCGTGCCCCAGTACGCCCCGAGGGTCCTGACGCAGGCTTCCAACCCCGTCGTCTGCACGCAG
CCCAAATCCCCATCCGGGACAGTGTGCACCTCAAAGACTAAGAAAGCACTGTGCATCACCTTGACCCTGGGGACCTTCCTCGTGGGAGCTGCGCTGGCCGCTGGC
CTACTCTGGAAGTTCATGGGCAGCAAGTGCTCCAACTCTGGGATAGAGTGCGACTCCTCAGGTACCTGCATCAACCCCTCTAACTGGTGTGATGGCGTGTCACAC
TGCCCCGGCGGGGAGGACGAGAATCGGTGTGTTCGCCTCTACGGACCAAACTTCATCCTTCAGGTGTACTCATCTCAGAGGAAGTCCTGGCACCCTGTGTGCCAA
GACGACTGGAACGAGAACTACGGGCGGGCGGCCTGCAGGGACATGGGCTATAAGAATAATTTTTACTCTAGCCAAGGAATAGTGGATGACAGCGGATCCACCAGC
TTTATGAAACTGAACACAAGTGCCGGCAATGTCGATATCTATAAAAAACTGTACCACAGTGATGCCTGTTCTTCAAAAGCAGTGGTTTCTTTACGCTGTATAGCC
TGCGGGGTCAACTTGAACTCAAGCCGCCAGAGCAGGATTGTGGGCGGCGAGAGCGCGCTCCCGGGGGCCTGGCCCTGGCAGGTCAGCCTGCACGTCCAGAACGTC
CACGTGTGCGGAGGCTCCATCATCACCCCCGAGTGGATCGTGACAGCCGCCCACTGCGTGGAAAAACCTCTTAACAATCCATGGCATTGGACGGCATTTGCGGGG
ATTTTGAGACAATCTTTCATGTTCTATGGAGCCGGATACCAAGTAGAAAAAGTGATTTCTCATCCAAATTATGACTCCAAGACCAAGAACAATGACATTGCGCTG
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>TMPRSS2|7113|protein
MPPAPPGGESGCEERGAAGHIEHSRYLSLLDAVDNSKMALNSGSPPAIGPYYENHGYQPENPYPAQPTVVPTVYEVHPAQYYPSPVPQYAPRVLTQASNPVVCTQ
PKSPSGTVCTSKTKKALCITLTLGTFLVGAALAAGLLWKFMGSKCSNSGIECDSSGTCINPSNWCDGVSHCPGGEDENRCVRLYGPNFILQVYSSQRKSWHPVCQ
DDWNENYGRAACRDMGYKNNFYSSQGIVDDSGSTSFMKLNTSAGNVDIYKKLYHSDACSSKAVVSLRCIACGVNLNSSRQSRIVGGESALPGAWPWQVSLHVQNV
HVCGGSIITPEWIVTAAHCVEKPLNNPWHWTAFAGILRQSFMFYGAGYQVEKVISHPNYDSKTKNNDIALMKLQKPLTFNDLVKPVCLPNPGMMLQPEQLCWISG
WGATEEKGKTSEVLNAAKVLLIETQRCNSRYVYDNLITPAMICAGFLQGNVDSCQGDSGGPLVTSKNNIWWLIGDTSWGSGCAKAYRPGVYGNVMVFTDWIYRQM
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top