AutismKB 2.0

Evidence Details for TPX2


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Basic Information Top
Gene Symbol:TPX2 ( C20orf1,C20orf2,DIL-2,DIL2,FLS353,GD:C20orf1,HCA519,HCTP4,REPP86,p100 )
Gene Full Name: TPX2, microtubule-associated, homolog (Xenopus laevis)
Band: 20q11.21
Quick LinksEntrez ID:22974; OMIM: 605917; Uniprot ID:TPX2_HUMAN; ENSEMBL ID: ENSG00000088325; HGNC ID: 1249
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TPX2|22974|nucleotide
ATGTCACAAGTTAAAAGCTCTTATTCCTATGATGCCCCCTCGGATTTCATCAATTTTTCATCCTTGGATGATGAAGGAGATACTCAAAACATAGATTCATGGTTT
GAGGAGAAGGCCAATTTGGAGAATAAGTTACTGGGGAAGAATGGAACTGGAGGGCTTTTTCAGGGCAAAACTCCTTTGAGAAAGGCTAATCTTCAGCAAGCTATT
GTCACACCTTTGAAACCAGTTGACAACACTTACTACAAAGAGGCAGAAAAAGAAAATCTTGTGGAACAATCCATTCCGTCAAATGCTTGTTCTTCCCTGGAAGTT
GAGGCAGCCATATCAAGAAAAACTCCAGCCCAGCCTCAGAGAAGATCTCTTAGGCTTTCTGCTCAGAAGGATTTGGAACAGAAAGAAAAGCATCATGTAAAAATG
AAAGCCAAGAGATGTGCCACTCCTGTAATCATCGATGAAATTCTACCCTCTAAGAAAATGAAAGTTTCTAACAACAAAAAGAAGCCAGAGGAAGAAGGCAGTGCT
CATCAAGATACTGCTGAAAAGAATGCATCTTCCCCAGAGAAAGCCAAGGGTAGACATACTGTGCCTTGTATGCCACCTGCAAAGCAGAAGTTTCTAAAAAGTACT
GAGGAGCAAGAGCTGGAGAAGAGTATGAAAATGCAGCAAGAGGTGGTGGAGATGCGGAAAAAGAATGAAGAATTCAAGAAACTTGCTCTGGCTGGAATAGGGCAA
CCTGTGAAGAAATCAGTGAGCCAGGTCACCAAATCAGTTGACTTCCACTTCCGCACAGATGAGCGAATCAAACAACATCCTAAGAACCAGGAGGAATATAAGGAA
GTGAACTTTACATCTGAACTACGAAAGCATCCTTCATCTCCTGCCCGAGTGACTAAGGGATGTACCATTGTTAAGCCTTTCAACCTGTCCCAAGGAAAGAAAAGA
ACATTTGATGAAACAGTTTCTACATATGTGCCCCTTGCACAGCAAGTTGAAGACTTCCATAAACGAACCCCTAACAGATATCATTTGAGGAGCAAGAAGGATGAT
ATTAACCTGTTACCCTCCAAATCTTCTGTGACCAAGATTTGCAGAGACCCACAGACTCCTGTACTGCAAACCAAACACCGTGCACGGGCTGTGACCTGCAAAAGT
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>TPX2|22974|protein
MSQVKSSYSYDAPSDFINFSSLDDEGDTQNIDSWFEEKANLENKLLGKNGTGGLFQGKTPLRKANLQQAIVTPLKPVDNTYYKEAEKENLVEQSIPSNACSSLEV
EAAISRKTPAQPQRRSLRLSAQKDLEQKEKHHVKMKAKRCATPVIIDEILPSKKMKVSNNKKKPEEEGSAHQDTAEKNASSPEKAKGRHTVPCMPPAKQKFLKST
EEQELEKSMKMQQEVVEMRKKNEEFKKLALAGIGQPVKKSVSQVTKSVDFHFRTDERIKQHPKNQEEYKEVNFTSELRKHPSSPARVTKGCTIVKPFNLSQGKKR
TFDETVSTYVPLAQQVEDFHKRTPNRYHLRSKKDDINLLPSKSSVTKICRDPQTPVLQTKHRARAVTCKSTAELEAEELEKLQQYKFKARELDPRILEGGPILPK
KPPVKPPTEPIGFDLEIEKRIQERESKKKTEDEHFEFHSRPCPTKILEDVVGVPEKKVLPITVPKSPAFALKNRIRMPTKEDEEEDEPVVIKAQPVPHYGVPFKP
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top