AutismKB 2.0

Evidence Details for TSHZ1


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Basic Information Top
Gene Symbol:TSHZ1 ( NY-CO-33,SDCCAG33,TSH1 )
Gene Full Name: teashirt zinc finger homeobox 1
Band: 18q22.3
Quick LinksEntrez ID:10194; OMIM: NA; Uniprot ID:TSH1_HUMAN; ENSEMBL ID: ENSG00000179981; HGNC ID: 10669
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TSHZ1|10194|nucleotide
ATGTGCAATGAAGAGACGGAGATCAAAGAGGCGCAGAGCTACCAGAACTCCCCAGTCAGCTCTGCGACTAACCAGGACGCCGGCTACGGGTCGCCCTTCAGTGAG
AGCAGCGACCAGCTAGCCCATTTCAAAGGCTCTTCCTCTCGAGAAGAGAAGGAGGATCCGCAGTGTCCCGACAGCGTCTCGTACCCCCAGGACAGCCTGGCACAG
ATCAAAGCTGTGTATGCAAACTTGTTCTCCGAGTCCTGCTGGTCCAGCTTAGCTCTGGATTTAAAGAAGTCGGGTTCCACCACCAGCACCAACGATGCCAGCCAG
AAGGAGAGCTCCGCCCCCACCCCCACACCCCCCACCTGCCCCGTCAGCACCACTGGCCCCACCACGAGCACGCCCAGCACCAGCTGCAGCTCCAGCACCAGCCAC
AGCAGTACCACCAGTACCAGCAGCAGCTCCGGGTACGACTGGCACCAGGCTGCACTGGCCAAGACGCTGCAGCAGACGTCCTCGTATGGGCTGCTTCCTGAGCCC
AGCCTGTTCAGCACCGTGCAGCTCTACCGCCAGAACAACAAGCTCTACGGCTCCGTCTTCACGGGCGCCAGCAAGTTCCGGTGCAAAGACTGCAGTGCCGCGTAC
GACACGCTGGTGGAACTGACGGTGCACATGAACGAGACAGGCCACTACCGTGACGACAACAGGGACAAGGACTCCGAGAAGACCAAGAGGTGGTCCAAGCCCAGG
AAGCGCTCCCTGATGGAGATGGAGGGGAAGGAGGATGCCCAGAAGGTGCTGAAGTGCATGTACTGTGGACACTCCTTTGAGTCCTTGCAGGACCTCAGCGTCCAC
ATGATCAAAACCAAGCATTACCAGAAAGTGCCTCTGAAGGAGCCAGTGCCAGCCATCACCAAACTGGTCCCCTCCACCAAAAAGCGGGCGCTTCAGGACCTGGCG
CCCCCCTGCTCCCCTGAGCCAGCAGGAATGGCCGCAGAGGTGGCCCTGAGTGAGTCAGCCAAGGATCAGAAAGCAGCGAACCCGTACGTCACGCCCAATAACCGC
TATGGCTACCAGAATGGCGCCAGCTACACCTGGCAGTTTGAGGCCCGCAAGGCGCAGATCCTCAAGTGCATGGAGTGTGGCAGCTCCCACGACACGCTGCAGCAG
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>TSHZ1|10194|protein
MCNEETEIKEAQSYQNSPVSSATNQDAGYGSPFSESSDQLAHFKGSSSREEKEDPQCPDSVSYPQDSLAQIKAVYANLFSESCWSSLALDLKKSGSTTSTNDASQ
KESSAPTPTPPTCPVSTTGPTTSTPSTSCSSSTSHSSTTSTSSSSGYDWHQAALAKTLQQTSSYGLLPEPSLFSTVQLYRQNNKLYGSVFTGASKFRCKDCSAAY
DTLVELTVHMNETGHYRDDNRDKDSEKTKRWSKPRKRSLMEMEGKEDAQKVLKCMYCGHSFESLQDLSVHMIKTKHYQKVPLKEPVPAITKLVPSTKKRALQDLA
PPCSPEPAGMAAEVALSESAKDQKAANPYVTPNNRYGYQNGASYTWQFEARKAQILKCMECGSSHDTLQQLTAHMMVTGHFLKVTTSASKKGKQLVLDPVVEEKI
QSIPLPPTTHTRLPASSIKKQPDSPAGSTTSEEKKEPEKEKPPVAGDAEKIKEESEDSLEKFEPSTLYPYLREEDLDDSPKGGLDILKSLENTVSTAISKAQNGA
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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 (3) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (7)
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_1 Discovery Illumina HumanHap 550K BeadChip 124 -
(-)
AS -
(3-21)
-
>70
Salyakina, 2010_2 Replication Illumina HumanHap 550K BeadChip 110 -
(-)
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
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Bremer, 2011 - aCGHASD - - - - 223 - 223
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018