AutismKB 2.0

Evidence Details for THBS4


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Basic Information Top
Gene Symbol:THBS4 ( TSP4 )
Gene Full Name: thrombospondin 4
Band: 5q14.1
Quick LinksEntrez ID:7060; OMIM: 600715; Uniprot ID:TSP4_HUMAN; ENSEMBL ID: ENSG00000113296; HGNC ID: 11788
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>THBS4|7060|nucleotide
ATGCTGGCCCCGCGCGGAGCCGCCGTCCTCCTGCTGCACCTGGTCCTGCAGCGGTGGCTAGCGGCAGGCGCCCAGGCCACCCCCCAGGTCTTTGACCTTCTCCCA
TCTTCCAGTCAGAGGCTAAACCCAGGCGCTCTGCTGCCAGTCCTGACAGACCCCGCCCTGAATGATCTCTATGTGATTTCCACCTTCAAGCTGCAGACTAAAAGT
TCAGCCACCATCTTCGGTCTTTACTCTTCAACTGACAACAGTAAATATTTTGAATTTACTGTGATGGGACGCTTAAACAAAGCCATCCTCCGTTACCTGAAGAAC
GATGGGAAGGTGCATTTGGTGGTTTTCAACAACCTGCAGCTGGCAGACGGAAGGCGGCACAGGATCCTCCTGAGGCTGAGCAATTTGCAGCGAGGGGCCGGCTCC
CTAGAGCTCTACCTGGACTGCATCCAGGTGGATTCCGTTCACAATCTCCCCAGGGCCTTTGCTGGCCCCTCCCAGAAACCTGAGACCATTGAATTGAGGACTTTC
CAGAGGAAGCCACAGGACTTCTTGGAAGAGCTGAAGCTGGTGGTGAGAGGCTCACTGTTCCAGGTGGCCAGCCTGCAAGACTGCTTCCTGCAGCAGAGTGAGCCA
CTGGCTGCCACAGGCACAGGGGACTTTAACCGGCAGTTCTTGGGTCAAATGACACAATTAAACCAACTCCTGGGAGAGGTGAAGGACCTTCTGAGACAGCAGGTT
AAGGAAACATCATTTTTGCGAAACACCATAGCTGAATGCCAGGCTTGCGGTCCTCTCAAGTTTCAGTCTCCGACCCCAAGCACGGTGGTGCCCCCGGCTCCCCCT
GCACCGCCAACACGCCCACCTCGTCGGTGTGACTCCAACCCATGTTTCCGAGGTGTCCAATGTACCGACAGTAGAGATGGCTTCCAGTGTGGGCCCTGCCCCGAG
GGCTACACAGGAAACGGGATCACCTGTATTGATGTTGATGAGTGCAAATACCATCCCTGCTACCCGGGCGTGCACTGCATAAATTTGTCTCCTGGCTTCAGATGT
GACGCCTGCCCAGTGGGCTTCACAGGGCCCATGGTGCAGGGTGTTGGGATCAGTTTTGCCAAGTCAAACAAGCAGGTCTGCACTGACATTGATGAGTGTCGAAAT
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>THBS4|7060|protein
MLAPRGAAVLLLHLVLQRWLAAGAQATPQVFDLLPSSSQRLNPGALLPVLTDPALNDLYVISTFKLQTKSSATIFGLYSSTDNSKYFEFTVMGRLNKAILRYLKN
DGKVHLVVFNNLQLADGRRHRILLRLSNLQRGAGSLELYLDCIQVDSVHNLPRAFAGPSQKPETIELRTFQRKPQDFLEELKLVVRGSLFQVASLQDCFLQQSEP
LAATGTGDFNRQFLGQMTQLNQLLGEVKDLLRQQVKETSFLRNTIAECQACGPLKFQSPTPSTVVPPAPPAPPTRPPRRCDSNPCFRGVQCTDSRDGFQCGPCPE
GYTGNGITCIDVDECKYHPCYPGVHCINLSPGFRCDACPVGFTGPMVQGVGISFAKSNKQVCTDIDECRNGACVPNSICVNTLGSYRCGPCKPGYTGDQIRGCKA
ERNCRNPELNPCSVNAQCIEERQGDVTCVCGVGWAGDGYICGKDVDIDSYPDEELPCSARNCKKDNCKYVPNSGQEDADRDGIGDACDEDADGDGILNEQDNCVL
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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 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)
AS -
(3-21)
-
>70
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top