Evidence Details for WNT2
Basic Information Top
Gene Symbol: | WNT2 ( INT1L1,IRP ) |
---|---|
Gene Full Name: | wingless-type MMTV integration site family member 2 |
Band: | 7q31.2 |
Quick Links | Entrez 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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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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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 microarray | ASD | 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
Reference | Source | Platform | #Families | Affecteds | Result | |||||
---|---|---|---|---|---|---|---|---|---|---|
#Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
CAUCASIAN | ||||||||||
Wassink, 2001_1 | USA | SSCP, PCR, sequence | 120 | - (-) | ASD | - - |
- - | |||
McCoy, 2002_1 | USA | PCR, Dhplc and WAVE analysis | 217 | - (-) | AD | - (3-21) |
- - | |||
Li, 2004_1 | Unknown | ABI sequece software Genescan 2.01 | 107 | 225 (-) | AD | - - |
>30 - | |||
ASIAN | ||||||||||
Marui, 2009_1 | Japan | TaqMan method-based assay using the ABI 7900HT sequence detection system (Applied Biosystems, USA) | 98 | 98 (11.22%) | AD | - - |
- - |
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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