AutismKB 2.0

Evidence Details for SPATA13


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Basic Information Top
Gene Symbol:SPATA13 ( ARHGEF29,ASEF2,FLJ31208,FLJ35435,MGC129988,MGC129989 )
Gene Full Name: spermatogenesis associated 13
Band: 13q12.12
Quick LinksEntrez ID:221178; OMIM: 613324; Uniprot ID:SPT13_HUMAN; ENSEMBL ID: ENSG00000182957; HGNC ID: 23222
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SPATA13|221178|nucleotide
ATGACCCAGGCTGCCGTGCGGCCCTGGGCACCCTGCCTGGAGAACATGACCACTGCCCCAAACGGCCTCGGGCCAGGCCCCGCAGCCCCCTGTGCAGGCTCGGAC
CTGAAAGACGCCAAGATGGTGACCTCCCTTGCGTGTGGAAATGGAGTCTGTGGCTGCAGCCCTGGTGGCGACACGGACACCCAGGAAGCCAAACTCAGCCCAGCC
AAGCTTGTGCGCCTCTTTTCCACCAGTCGGAAGAGGACGGGTGCCCACCCCGAGCGGCCCCACTCCATGGTCCTGGTGGGGAACTCCTCCACATGGAACACCCTC
GCCTCCTTCCGGAAAATGGGATCCTTTAAGAAACTGAAGTCCTCAGTCCTGAAAGGAATTCAGAGCCGAGAGGGGTCAAATGCCTGTTCAAAGGGAGAGGCTTCG
GAGCATGGCCTGGGAAAGTCCATCCCAAATGGCGCTGTCCCAGGAGCCCAGGCAAGCAGGGGCTCCCCCTTAGCACCGGGACCAGCATGTGGTGCCCTCAGGCCA
GCAGAGTGGGGCACATTGGATGGCTCCGACCTCGAGGACACGGACGATGCCTTCCAGCGGAGCACACACCGCTCCCGCAGCCTCCGCAGAGCCTACGGCCTGGGC
CGCATCTGCCTGCTGGATGCGCCCCAGAACCATGCGACACCCACGATAGCCACTGGCCAGGTGCCCGCCGTGTGTGAGATTCTCGTGAGGGACCCTGAAAACAAC
AGCATGGGCTACAGGAGGAGCAAGAGCACGGACAATCTTGCCTTTCTGAAGAAGAGCTCCTTTAAGCGGAAGTCCACCTCCAATCTTGCAGACCTCAGGACGGCC
CATGACGCACGGGTACCACAGAGGACCCTGAGCAGTTCCTCCACTGACTCCCAAAAGCTTGGGTCAGGAAGGACCAAACGCTGGAGGAGCCCGATAAGGGCCAAG
GACTTTGACAGAGTCTTCAAACTTGTGAGCAATGTGACTGAGGCTGCCTGGAGGAGGGAGAGTCCTAGGAGTGGGGCCCCATCCCCTGGAGAGGCCAGCCTGAGA
CTTCAGGCACACAGCCGGCTGCATGACGACTACTCCCGCCGCGTCTCCAGGAGCACTGAGCAGGACAGCAGGCGGGGCGGGGCGGTCATGCATGGGACCACTGCA
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>SPATA13|221178|protein
MTQAAVRPWAPCLENMTTAPNGLGPGPAAPCAGSDLKDAKMVTSLACGNGVCGCSPGGDTDTQEAKLSPAKLVRLFSTSRKRTGAHPERPHSMVLVGNSSTWNTL
ASFRKMGSFKKLKSSVLKGIQSREGSNACSKGEASEHGLGKSIPNGAVPGAQASRGSPLAPGPACGALRPAEWGTLDGSDLEDTDDAFQRSTHRSRSLRRAYGLG
RICLLDAPQNHATPTIATGQVPAVCEILVRDPENNSMGYRRSKSTDNLAFLKKSSFKRKSTSNLADLRTAHDARVPQRTLSSSSTDSQKLGSGRTKRWRSPIRAK
DFDRVFKLVSNVTEAAWRRESPRSGAPSPGEASLRLQAHSRLHDDYSRRVSRSTEQDSRRGGAVMHGTTATCTVAPGFGSATSKGPHLDADTAVFPLETKSSWAV
ESDSSCTCSSLPSPIVQDVLSKDSCDPNAGSQLTFDPEQPPTPLRPTTPKPQSPQSPQSPGAGSASCHSNHSALSANSEESEGRAEEPAQREPGPVSLQDPLEAT
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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 (1) 0 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
1.17 Up 0.0123
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1742824
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
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