AutismKB 2.0

Evidence Details for WNT2


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Basic Information Top
Gene Symbol:WNT2 ( INT1L1,IRP )
Gene Full Name: wingless-type MMTV integration site family member 2
Band: 7q31.2
Quick LinksEntrez ID:7472; OMIM: 147870; Uniprot ID:WNT2_HUMAN; ENSEMBL ID: ENSG00000105989; HGNC ID: 12780
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>WNT2|7472|nucleotide
ATGAACGCCCCTCTCGGTGGAATCTGGCTCTGGCTCCCTCTGCTCTTGACCTGGCTCACCCCCGAGGTCAACTCTTCATGGTGGTACATGAGAGCTACAGGTGGC
TCCTCCAGGGTGATGTGCGATAATGTGCCAGGCCTGGTGAGCAGCCAGCGGCAGCTGTGTCACCGACATCCAGATGTGATGCGTGCCATTAGCCAGGGCGTGGCC
GAGTGGACAGCAGAATGCCAGCACCAGTTCCGCCAGCACCGCTGGAATTGCAACACCCTGGACAGGGATCACAGCCTTTTTGGCAGGGTCCTACTCCGAAGTAGT
CGGGAATCTGCCTTTGTTTATGCCATCTCCTCAGCTGGAGTTGTATTTGCCATCACCAGGGCCTGTAGCCAAGGAGAAGTAAAATCCTGTTCCTGTGATCCAAAG
AAGATGGGAAGCGCCAAGGACAGCAAAGGCATTTTTGATTGGGGTGGCTGCAGTGATAACATTGACTATGGGATCAAATTTGCCCGCGCATTTGTGGATGCAAAG
GAAAGGAAAGGAAAGGATGCCAGAGCCCTGATGAATCTTCACAACAACAGAGCTGGCAGGAAGGCTGTAAAGCGGTTCTTGAAACAAGAGTGCAAGTGCCACGGG
GTGAGCGGCTCATGTACTCTCAGGACATGCTGGCTGGCCATGGCCGACTTCAGGAAAACGGGCGATTATCTCTGGAGGAAGTACAATGGGGCCATCCAGGTGGTC
ATGAACCAGGATGGCACAGGTTTCACTGTGGCTAACGAGAGGTTTAAGAAGCCAACGAAAAATGACCTCGTGTATTTTGAGAATTCTCCAGACTACTGTATCAGG
GACCGAGAGGCAGGCTCCCTGGGTACAGCAGGCCGTGTGTGCAACCTGACTTCCCGGGGCATGGACAGCTGTGAAGTCATGTGCTGTGGGAGAGGCTACGACACC
TCCCATGTCACCCGGATGACCAAGTGTGGGTGTAAGTTCCACTGGTGCTGCGCCGTGCGCTGTCAGGACTGCCTGGAAGCTCTGGATGTGCACACATGCAAGGCC
CCCAAGAACGCTGACTGGACAACCGCTACATGA
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>WNT2|7472|protein
MNAPLGGIWLWLPLLLTWLTPEVNSSWWYMRATGGSSRVMCDNVPGLVSSQRQLCHRHPDVMRAISQGVAEWTAECQHQFRQHRWNCNTLDRDHSLFGRVLLRSS
RESAFVYAISSAGVVFAITRACSQGEVKSCSCDPKKMGSAKDSKGIFDWGGCSDNIDYGIKFARAFVDAKERKGKDARALMNLHNNRAGRKAVKRFLKQECKCHG
VSGSCTLRTCWLAMADFRKTGDYLWRKYNGAIQVVMNQDGTGFTVANERFKKPTKNDLVYFENSPDYCIRDREAGSLGTAGRVCNLTSRGMDSCEVMCCGRGYDT
SHVTRMTKCGCKFHWCCAVRCQDCLEALDVHTCKAPKNADWTTAT

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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 (2) 0 (0) 2 (5) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1) 14 (8)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 4
Case Control Based Association Studies: 1
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Koberstein JN, 2018_1 Unknown Life Technologies--ASD -
3.3 to 15.2 years
- 214
(-)
-
3.2 to 16.3 years
-
ASIAN
Marui, 2009_1 Japan -AD 20.8
(3-41)
- 214
(32.24%)
34.6
(21-65)
Large Scale Expression Studies Top
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