AutismKB 2.0

Evidence Details for TSPYL2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TSPYL2 ( CDA1,CINAP,CTCL,DENTT,HRIHFB2216,NP79,SE204,TSPX )
Gene Full Name: TSPY-like 2
Band: Xp11.22
Quick LinksEntrez ID:64061; OMIM: 300564; Uniprot ID:TSYL2_HUMAN; ENSEMBL ID: ENSG00000184205; HGNC ID: 24358
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSPYL2|64061|nucleotide
ATGGACCGCCCAGATGAGGGGCCTCCGGCCAAGACCCGCCGCCTGAGCAGCTCCGAGTCTCCACAGCGCGACCCGCCCCCGCCGCCGCCGCCGCCGCCGCTCCTC
CGACTGCCGCTGCCTCCACCCCAGCAGCGCCCGAGGCTCCAGGAGGAAACGGAGGCGGCACAGGTGCTGGCCGATATGAGGGGGGTGGGACTGGGCCCCGCGCTG
CCCCCGCCGCCTCCCTATGTCATTCTCGAGGAGGGGGGGATCCGCGCATACTTCACGCTCGGTGCTGAGTGTCCCGGCTGGGATTCTACCATCGAGTCGGGGTAT
GGGGAGGCGCCCCCGCCCACGGAGAGCCTGGAAGCACTCCCCACTCCTGAGGCCTCGGGGGGGAGCCTGGAAATCGATTTTCAGGTTGTACAGTCGAGCAGTTTT
GGTGGAGAGGGGGCCCTAGAAACCTGTAGCGCAGTGGGGTGGGCGCCCCAGAGGTTAGTTGACCCGAAGAGCAAGGAAGAGGCGATCATCATAGTGGAGGATGAG
GATGAGGATGAGCGGGAGAGTATGAGGAGCAGCAGGAGGCGGCGGCGGCGGCGGAGGAGGAAGCAGAGGAAGGTGAAGAGGGAAAGCAGAGAGAGAAATGCCGAG
AGGATGGAGAGCATCCTGCAGGCACTGGAGGATATTCAGCTGGATCTGGAGGCAGTGAACATCAAGGCAGGCAAAGCCTTCCTGCGTCTCAAGCGCAAGTTCATC
CAGATGCGAAGACCCTTCCTGGAGCGCAGAGACCTCATCATCCAGCATATCCCAGGCTTCTGGGTCAAAGCATTCCTCAACCACCCCAGAATTTCAATTTTGATC
AACCGACGTGATGAAGACATTTTCCGCTACTTGACCAATCTGCAGGTACAGGATCTCAGACATATCTCCATGGGCTACAAAATGAAGCTGTACTTCCAGACTAAC
CCCTACTTCACAAACATGGTGATTGTCAAGGAGTTCCAGCGCAACCGCTCAGGCCGGCTGGTGTCTCACTCAACCCCAATCCGCTGGCACCGGGGCCAGGAACCC
CAGGCCCGTCGTCACGGGAACCAGGATGCGAGCCACAGCTTTTTCAGCTGGTTCTCAAACCATAGCCTCCCAGAGGCTGACAGGATTGCTGAGATTATCAAGAAT
Show »

>TSPYL2|64061|protein
MDRPDEGPPAKTRRLSSSESPQRDPPPPPPPPPLLRLPLPPPQQRPRLQEETEAAQVLADMRGVGLGPALPPPPPYVILEEGGIRAYFTLGAECPGWDSTIESGY
GEAPPPTESLEALPTPEASGGSLEIDFQVVQSSSFGGEGALETCSAVGWAPQRLVDPKSKEEAIIIVEDEDEDERESMRSSRRRRRRRRRKQRKVKRESRERNAE
RMESILQALEDIQLDLEAVNIKAGKAFLRLKRKFIQMRRPFLERRDLIIQHIPGFWVKAFLNHPRISILINRRDEDIFRYLTNLQVQDLRHISMGYKMKLYFQTN
PYFTNMVIVKEFQRNRSGRLVSHSTPIRWHRGQEPQARRHGNQDASHSFFSWFSNHSLPEADRIAEIIKNDLWVNPLRYYLRERGSRIKRKKQEMKKRKTRGRCE
VVIMEDAPDYYAVEDIFSEISDIDETIHDIKISDFMETTDYFETTDNEITDINENICDSENPDHNEVPNNETTDNNESADDHETTDNNESADDNNENPEDNNKNT
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (2) 0 (0) 0 (0) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 4 (5)
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
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Linkage Studies Top