AutismKB 2.0

Evidence Details for TPTE


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Basic Information Top
Gene Symbol:TPTE ( CT44,PTEN2 )
Gene Full Name: transmembrane phosphatase with tensin homology
Band: 21p11.2
Quick LinksEntrez ID:7179; OMIM: 604336; Uniprot ID:TPTE_HUMAN; ENSEMBL ID: ENSG00000166157; HGNC ID: 12023
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TPTE|7179|nucleotide
ATGAATGAAAGTCCTGATCCGACTGACCTGGCGGGAGTCATCATTGAGCTCGGCCCCAATGACAGTCCACAGACAAGTGAATTTAAAGGAGCAACCGAGGAGGCA
CCTGCGAAAGAAAGTGTGTTAGCACGACTTTCCAAGTTTGAAGTTGAAGATGCTGAAAATGTTGCTTCATATGACAGCAAGATTAAGAAAATTGTGCATTCAATT
GTATCATCCTTTGCATTTGGACTATTTGGAGTTTTCCTGGTCTTACTGGATGTCACTCTCATCCTTGCCGACCTAATTTTCACTGACAGCAAACTTTATATTCCT
TTGGAGTATCGTTCTATTTCTCTAGCTATTGCCTTATTTTTTCTCATGGATGTTCTTCTTCGAGTATTTGTAGAAAGGAGACAGCAGTATTTTTCTGACTTATTT
AACATTTTAGATACTGCCATTATTGTGATTCTTCTGCTGGTTGATGTCGTTTACATTTTTTTTGACATTAAGTTGCTTAGGAATATTCCCAGATGGACACATTTA
CTTCGACTTCTACGACTTATTATTCTGTTAAGAATTTTTCATCTGTTTCATCAAAAAAGACAACTTGAAAAGCTGATAAGAAGGCGGGTTTCAGAAAACAAAAGG
CGATACACAAGGGATGGATTTGACCTAGACCTCACTTACGTTACAGAACGTATTATTGCTATGTCATTTCCATCTTCTGGAAGGCAGTCTTTCTATAGAAATCCA
ATCAAGGAAGTTGTGCGGTTTCTAGATAAGAAACACCGAAACCACTATCGAGTCTACAATCTATGCAGTGAAAGAGCTTACGATCCTAAGCACTTCCATAATAGG
GTCGTTAGAATCATGATTGATGATCATAATGTCCCCACTCTACATCAGATGGTGGTTTTCACCAAGGAAGTAAATGAGTGGATGGCTCAAGATCTTGAAAACATC
GTAGCGATTCACTGTAAAGGAGGCACAGATAGAACAGGAACTATGGTTTGTGCCTTCCTTATTGCCTCTGAAATATGTTCAACTGCAAAGGAAAGCCTGTATTAT
TTTGGAGAAAGGCGAACAGATAAAACCCACAGCGAAAAATTTCAGGGAGTAGAAACTCCTTCTCAGAAGAGATATGTTGCATATTTTGCACAAGTGAAACATCTC
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>TPTE|7179|protein
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKLYIP
LEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKR
RYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENI
VAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVETPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFIIYSIPRYVRDLKIQIEME
KKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEKMTS
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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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top