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_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
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