Evidence Details for WDR72
Basic Information Top
| Gene Symbol: | WDR72 ( AI2A3,FLJ38736,MGC126663,MGC126665 ) |
|---|---|
| Gene Full Name: | WD repeat domain 72 |
| Band: | 15q21.3 |
| Quick Links | Entrez ID:256764; OMIM: 613214; Uniprot ID:WDR72_HUMAN; ENSEMBL ID: ENSG00000166415; HGNC ID: 26790 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>WDR72|256764|nucleotide
ATGAGGACTTCCCTGCAGGCAGTGGCACTCTGGGGACAGAAGGCCCCTCCCCACAGCATCACTGCCATCATGATCACTGATGACCAGCGAACGATTGTGACTGGA
AGTCAAGAGGGTCAGCTCTGTCTCTGGAATCTCTCACATGAACTAAAGATTTCAGCGAAAGAACTCCTATTTGGTCATTCAGCTTCGGTAACATGTTTGGCAAGA
GCAAGGGACTTCTCTAAACAGCCCTACATTGTTAGTGCTGCTGAAAATGGGGAGATGTGTGTTTGGAATGTCACCAATGGACAGTGCGTGGAGAAGGCTACACTT
CCTTACAGGCACACTGCAATCTGTTATTACCACTGCTCATTCCGGATGACAGGAGAAGGCTGGCTTCTTTGTTGTGGAGAATATCAAGATGTCCTTATAATTGAT
GCCAAAACTTTGGCTGTTGTTCACAGTTTTAGATCATCTCAGTTTCCTGACTGGATCAACTGCATGTGCATTGTTCACTCCATGAGAATTCAAGAAGATTCTCTC
TTGGTGGTATCAGTAGCTGGTGAGCTCAAAGTATGGGATCTTTCCTCATCTATCAACAGCATTCAGGAAAAGCAAGATGTCTATGAAAAAGAATCCAAGTTTCTT
GAGTCCTTGAACTGCCAGACAATTCGATTTTGCACATATACTGAGAGACTTCTATTGGTGGTATTTTCTAAATGTTGGAAGGTTTATGATTATTGTGATTTTTCC
CTTCTGCTGACTGAAGTTAGTAGAAATGGGCAGTTCTTTGCTGGTGGAGAAGTGATTGCTGCTCACAGAATCCTCATCTGGACAGAAGATGGTCACAGTTACATC
TATCAGCTGCTGAACAGTGGGCTTTCAAAAAGCATATACCCTGCTGATGGAAGAGTGCTTAAAGAGACCATTTATCCTCATTTACTGTGCTCTACTTCTGTGCAG
GAAAATAAGGAACAGAGCCGTCCCTTTGTTATGGGCTACATGAATGAAAGGAAAGAGCCTTTTTACAAGGTACTTTTCTCTGGAGAAGTCTCAGGAAGAATTACT
TTGTGGCACATCCCTGATGTTCCTGTATCCAAGTTTGATGGTTCTCCTAGAGAGATACCAGTAACTGCCACCTGGACTCTTCAAGATAATTTTGATAAGCATGAT
Show »
ATGAGGACTTCCCTGCAGGCAGTGGCACTCTGGGGACAGAAGGCCCCTCCCCACAGCATCACTGCCATCATGATCACTGATGACCAGCGAACGATTGTGACTGGA
AGTCAAGAGGGTCAGCTCTGTCTCTGGAATCTCTCACATGAACTAAAGATTTCAGCGAAAGAACTCCTATTTGGTCATTCAGCTTCGGTAACATGTTTGGCAAGA
GCAAGGGACTTCTCTAAACAGCCCTACATTGTTAGTGCTGCTGAAAATGGGGAGATGTGTGTTTGGAATGTCACCAATGGACAGTGCGTGGAGAAGGCTACACTT
CCTTACAGGCACACTGCAATCTGTTATTACCACTGCTCATTCCGGATGACAGGAGAAGGCTGGCTTCTTTGTTGTGGAGAATATCAAGATGTCCTTATAATTGAT
GCCAAAACTTTGGCTGTTGTTCACAGTTTTAGATCATCTCAGTTTCCTGACTGGATCAACTGCATGTGCATTGTTCACTCCATGAGAATTCAAGAAGATTCTCTC
TTGGTGGTATCAGTAGCTGGTGAGCTCAAAGTATGGGATCTTTCCTCATCTATCAACAGCATTCAGGAAAAGCAAGATGTCTATGAAAAAGAATCCAAGTTTCTT
GAGTCCTTGAACTGCCAGACAATTCGATTTTGCACATATACTGAGAGACTTCTATTGGTGGTATTTTCTAAATGTTGGAAGGTTTATGATTATTGTGATTTTTCC
CTTCTGCTGACTGAAGTTAGTAGAAATGGGCAGTTCTTTGCTGGTGGAGAAGTGATTGCTGCTCACAGAATCCTCATCTGGACAGAAGATGGTCACAGTTACATC
TATCAGCTGCTGAACAGTGGGCTTTCAAAAAGCATATACCCTGCTGATGGAAGAGTGCTTAAAGAGACCATTTATCCTCATTTACTGTGCTCTACTTCTGTGCAG
GAAAATAAGGAACAGAGCCGTCCCTTTGTTATGGGCTACATGAATGAAAGGAAAGAGCCTTTTTACAAGGTACTTTTCTCTGGAGAAGTCTCAGGAAGAATTACT
TTGTGGCACATCCCTGATGTTCCTGTATCCAAGTTTGATGGTTCTCCTAGAGAGATACCAGTAACTGCCACCTGGACTCTTCAAGATAATTTTGATAAGCATGAT
Show »
>WDR72|256764|protein
MRTSLQAVALWGQKAPPHSITAIMITDDQRTIVTGSQEGQLCLWNLSHELKISAKELLFGHSASVTCLARARDFSKQPYIVSAAENGEMCVWNVTNGQCVEKATL
PYRHTAICYYHCSFRMTGEGWLLCCGEYQDVLIIDAKTLAVVHSFRSSQFPDWINCMCIVHSMRIQEDSLLVVSVAGELKVWDLSSSINSIQEKQDVYEKESKFL
ESLNCQTIRFCTYTERLLLVVFSKCWKVYDYCDFSLLLTEVSRNGQFFAGGEVIAAHRILIWTEDGHSYIYQLLNSGLSKSIYPADGRVLKETIYPHLLCSTSVQ
ENKEQSRPFVMGYMNERKEPFYKVLFSGEVSGRITLWHIPDVPVSKFDGSPREIPVTATWTLQDNFDKHDTMSQSIIDYFSGLKDGAGTAVVTSSEYIPSLDKLI
CGCEDGTIIITQALNAAKARLLEGGSLVKDSPPHKVLKGHHQSVTSLLYPHGLSSKLDQSWMLSGDLDSCVILWDIFTEEILHKFFLEAGPVTSLLMSPEKFKLR
Show »
MRTSLQAVALWGQKAPPHSITAIMITDDQRTIVTGSQEGQLCLWNLSHELKISAKELLFGHSASVTCLARARDFSKQPYIVSAAENGEMCVWNVTNGQCVEKATL
PYRHTAICYYHCSFRMTGEGWLLCCGEYQDVLIIDAKTLAVVHSFRSSQFPDWINCMCIVHSMRIQEDSLLVVSVAGELKVWDLSSSINSIQEKQDVYEKESKFL
ESLNCQTIRFCTYTERLLLVVFSKCWKVYDYCDFSLLLTEVSRNGQFFAGGEVIAAHRILIWTEDGHSYIYQLLNSGLSKSIYPADGRVLKETIYPHLLCSTSVQ
ENKEQSRPFVMGYMNERKEPFYKVLFSGEVSGRITLWHIPDVPVSKFDGSPREIPVTATWTLQDNFDKHDTMSQSIIDYFSGLKDGAGTAVVTSSEYIPSLDKLI
CGCEDGTIIITQALNAAKARLLEGGSLVKDSPPHKVLKGHHQSVTSLLYPHGLSSKLDQSWMLSGDLDSCVILWDIFTEEILHKFFLEAGPVTSLLMSPEKFKLR
Show »
Evidence summary TopClick 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) | 1 (3) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |
Syndromic Autism Gene TopGenome-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 microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.