Evidence Details for WHSC1L1
Basic Information Top
| Gene Symbol: | WHSC1L1 ( DKFZp667H044,FLJ20353,MGC126766,MGC142029,NSD3,pp14328 ) |
|---|---|
| Gene Full Name: | Wolf-Hirschhorn syndrome candidate 1-like 1 |
| Band: | 8p11.2 |
| Quick Links | Entrez ID:54904; OMIM: 607083; Uniprot ID:NSD3_HUMAN; ENSEMBL ID: ENSG00000147548; HGNC ID: |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>WHSC1L1|54904|nucleotide
ATGGATTTCTCTTTCTCTTTCATGCAAGGGATCATGGGAAACACAATTCAGCAACCACCTCAACTCATTGACTCCGCCAACATCCGTCAGGAGGATGCCTTTGAT
AACAACAGTGACATTGCTGAAGATGGTGGCCAGACACCATATGAAGCTACTTTGCAGCAAGGCTTTCAGTACCCAGCTACAACAGAAGATCTTCCTCCACTCACA
AATGGGTATCCATCATCAATCAGTGTGTATGAAACTCAAACCAAATACCAGTCATATAATCAGTATCCTAATGGGTCAGCCAATGGCTTTGGTGCAGTTAGAAAC
TTTAGCCCCACTGACTATTATCATTCAGAAATTCCAAACACAAGACCACATGAAATTCTGGAAAAACCTTCCCCTCCACAGCCACCACCTCCTCCTTCGGTACCA
CAAACTGTGATTCCAAAGAAGACTGGCTCACCTGAAATTAAACTAAAAATAACCAAAACTATCCAGAATGGCAGGGAATTGTTTGAGTCTTCCCTTTGTGGAGAC
CTTTTAAATGAAGTACAGGCAAGTGAGCACACGAAATCAAAGCATGAAAGCAGAAAAGAAAAGAGGAAAAAAAGCAACAAGCATGACTCATCAAGATCTGAAGAG
CGCAAGTCACACAAAATCCCCAAATTAGAACCAGAGGAACAAAATAGACCAAATGAGAGGGTTGACACTGTATCAGAAAAACCAAGGGAAGAACCAGTACTAAAA
GAGGAAGCCCCAGTTCAGCCAATACTATCTTCTGTTCCAACAACGGAAGTGTCCACTGGTGTTAAGTTTCAGGTTGGCGATCTTGTGTGGTCCAAGGTGGGAACC
TATCCTTGGTGGCCTTGTATGGTTTCAAGTGATCCCCAGCTTGAGGTTCATACTAAAATTAACACAAGAGGTGCCCGAGAATATCATGTCCAGTTTTTTAGCAAC
CAGCCAGAGAGGGCGTGGGTTCATGAAAAACGGGTACGAGAGTATAAAGGTCATAAACAGTATGAAGAATTACTGGCTGAGGCAACCAAACAAGCCAGCAATCAC
TCTGAGAAACAAAAGATTCGGAAACCCCGACCTCAGAGAGAACGTGCTCAGTGGGATATTGGCATTGCCCATGCAGAGAAAGCATTGAAAATGACTCGAGAAGAA
Show »
ATGGATTTCTCTTTCTCTTTCATGCAAGGGATCATGGGAAACACAATTCAGCAACCACCTCAACTCATTGACTCCGCCAACATCCGTCAGGAGGATGCCTTTGAT
AACAACAGTGACATTGCTGAAGATGGTGGCCAGACACCATATGAAGCTACTTTGCAGCAAGGCTTTCAGTACCCAGCTACAACAGAAGATCTTCCTCCACTCACA
AATGGGTATCCATCATCAATCAGTGTGTATGAAACTCAAACCAAATACCAGTCATATAATCAGTATCCTAATGGGTCAGCCAATGGCTTTGGTGCAGTTAGAAAC
TTTAGCCCCACTGACTATTATCATTCAGAAATTCCAAACACAAGACCACATGAAATTCTGGAAAAACCTTCCCCTCCACAGCCACCACCTCCTCCTTCGGTACCA
CAAACTGTGATTCCAAAGAAGACTGGCTCACCTGAAATTAAACTAAAAATAACCAAAACTATCCAGAATGGCAGGGAATTGTTTGAGTCTTCCCTTTGTGGAGAC
CTTTTAAATGAAGTACAGGCAAGTGAGCACACGAAATCAAAGCATGAAAGCAGAAAAGAAAAGAGGAAAAAAAGCAACAAGCATGACTCATCAAGATCTGAAGAG
CGCAAGTCACACAAAATCCCCAAATTAGAACCAGAGGAACAAAATAGACCAAATGAGAGGGTTGACACTGTATCAGAAAAACCAAGGGAAGAACCAGTACTAAAA
GAGGAAGCCCCAGTTCAGCCAATACTATCTTCTGTTCCAACAACGGAAGTGTCCACTGGTGTTAAGTTTCAGGTTGGCGATCTTGTGTGGTCCAAGGTGGGAACC
TATCCTTGGTGGCCTTGTATGGTTTCAAGTGATCCCCAGCTTGAGGTTCATACTAAAATTAACACAAGAGGTGCCCGAGAATATCATGTCCAGTTTTTTAGCAAC
CAGCCAGAGAGGGCGTGGGTTCATGAAAAACGGGTACGAGAGTATAAAGGTCATAAACAGTATGAAGAATTACTGGCTGAGGCAACCAAACAAGCCAGCAATCAC
TCTGAGAAACAAAAGATTCGGAAACCCCGACCTCAGAGAGAACGTGCTCAGTGGGATATTGGCATTGCCCATGCAGAGAAAGCATTGAAAATGACTCGAGAAGAA
Show »
>WHSC1L1|54904|protein
MDFSFSFMQGIMGNTIQQPPQLIDSANIRQEDAFDNNSDIAEDGGQTPYEATLQQGFQYPATTEDLPPLTNGYPSSISVYETQTKYQSYNQYPNGSANGFGAVRN
FSPTDYYHSEIPNTRPHEILEKPSPPQPPPPPSVPQTVIPKKTGSPEIKLKITKTIQNGRELFESSLCGDLLNEVQASEHTKSKHESRKEKRKKSNKHDSSRSEE
RKSHKIPKLEPEEQNRPNERVDTVSEKPREEPVLKEEAPVQPILSSVPTTEVSTGVKFQVGDLVWSKVGTYPWWPCMVSSDPQLEVHTKINTRGAREYHVQFFSN
QPERAWVHEKRVREYKGHKQYEELLAEATKQASNHSEKQKIRKPRPQRERAQWDIGIAHAEKALKMTREERIEQYTFIYIDKQPEEALSQAKKSVASKTEVKKTR
RPRSVLNTQPEQTNAGEVASSLSSTEIRRHSQRRHTSAEEEEPPPVKIAWKTAAARKSLPASITMHKGSLDLQKCNMSPVVKIEQVFALQNATGDGKFIDQFVYS
Show »
MDFSFSFMQGIMGNTIQQPPQLIDSANIRQEDAFDNNSDIAEDGGQTPYEATLQQGFQYPATTEDLPPLTNGYPSSISVYETQTKYQSYNQYPNGSANGFGAVRN
FSPTDYYHSEIPNTRPHEILEKPSPPQPPPPPSVPQTVIPKKTGSPEIKLKITKTIQNGRELFESSLCGDLLNEVQASEHTKSKHESRKEKRKKSNKHDSSRSEE
RKSHKIPKLEPEEQNRPNERVDTVSEKPREEPVLKEEAPVQPILSSVPTTEVSTGVKFQVGDLVWSKVGTYPWWPCMVSSDPQLEVHTKINTRGAREYHVQFFSN
QPERAWVHEKRVREYKGHKQYEELLAEATKQASNHSEKQKIRKPRPQRERAQWDIGIAHAEKALKMTREERIEQYTFIYIDKQPEEALSQAKKSVASKTEVKKTR
RPRSVLNTQPEQTNAGEVASSLSSTEIRRHSQRRHTSAEEEEPPPVKIAWKTAAARKSLPASITMHKGSLDLQKCNMSPVVKIEQVFALQNATGDGKFIDQFVYS
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 | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 0
| Reference | Stage | Platform | #Families | Affecteds | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||||
| No Evidence. | ||||||||||||
Case Control Based Association Studies: 1
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| MIXED/OTHERS | ||||||||||||
| Anney RJL, 2017_3 | replication | 1369 (-) |  | | ASD | - - |
- | 137308 (-) |
- - | |||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Gregory, 2009 | USA | aCGH | |  | ASD | - | - | - | - | 119 | 54 | 173 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies TopLow 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.