Evidence Details for ASXL3
Basic Information Top
| Gene Symbol: | ASXL3 ( KIAA1713 ) |
|---|---|
| Gene Full Name: | additional sex combs like 3 (Drosophila) |
| Band: | 18q12.1 |
| Quick Links | Entrez ID:80816; OMIM: NA; Uniprot ID:ASXL3_HUMAN; ENSEMBL ID: ENSG00000141431; HGNC ID: 29357 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ASXL3|80816|nucleotide
ATGAAAGACAAGAGGAAGAAGAAGGACCGCACCTGGGCCGAGGCTGCCCGCCTGGCACTAGAAAAACACCCCAACTCACCAATGACAGCAAAGCAGATATTGGAA
GTCATTCAGAAAGAAGGGTTAAAAGAAACAAGTGGAACCTCTCCATTAGCCTGTCTGAATGCAATGCTTCACACTAACACTCGAATAGGGGATGGAACATTCTTC
AAAATCCCTGGAAAGTCAGGCCTCTATGCTCTCAAAAAAGAGGAGTCGTCATGCCCAGCAGATGGCACGTTGGATTTAGTCTGTGAATCTGAATTGGATGGTACA
GATATGGCCGAGGCAAATGCCCATGGAGAAGAAAATGGAGTTTGTTCGAAGCAGGTAACTGATGAAGCATCTTCCACTCGAGATTCAAGCCTTACTAACACAGCA
GTGCAAAGCAAGTTAGTGTCTTCCTTCCAGCAGCACACCAAAAAGGCTCTTAAACAGGCTTTGAGGCAGCAGCAGAAAAGAAGAAATGGAGTCTCAATGATGGTA
AACAAGACTGTTCCTCGTGTTGTTTTGACACCATTAAAGGTGTCTGATGAGCAGTCGGATTCGCCTTCAGGATCTGAATCTAAAAATGGTGAAGCAGACAGTTCA
GATAAAGAAATGAAACATGGGCAAAAATCTCCCACTGGAAAACAAACAAGTCAGCACTTAAAACGATTAAAAAAGTCTGGTTTAGGGCACTTGAAATGGACCAAA
GCTGAGGACATTGACATAGAAACCCCAGGATCTATTCTTGTCAACACTAACTTGAGGGCATTAATAAATAAACATACGTTTGCTTCCTTACCTCAGCATTTTCAA
CAATACCTCCTGCTTTTGCTCCCAGAAGTGGATAGGCAGATGGGAAGTGATGGAATTTTACGCCTCAGTACTTCAGCTCTAAATAATGAATTCTTTGCATATGCA
GCACAAGGGTGGAAACAGCGACTGGCAGAAGGAGAGTTTACCCCAGAAATGCAGTTGCGGATAAGGCAAGAAATTGAGAAGGAAAAGAAAACAGAACCTTGGAAA
GAAAAATTCTTTGAGAGGTTTTATGGAGAAAAGCTGGGCATGTCAAGAGAGGAATCTGTGAAGCTCACTACTGGACCAAACAACGCTGGAGCTCAAAGTAGTTCT
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ATGAAAGACAAGAGGAAGAAGAAGGACCGCACCTGGGCCGAGGCTGCCCGCCTGGCACTAGAAAAACACCCCAACTCACCAATGACAGCAAAGCAGATATTGGAA
GTCATTCAGAAAGAAGGGTTAAAAGAAACAAGTGGAACCTCTCCATTAGCCTGTCTGAATGCAATGCTTCACACTAACACTCGAATAGGGGATGGAACATTCTTC
AAAATCCCTGGAAAGTCAGGCCTCTATGCTCTCAAAAAAGAGGAGTCGTCATGCCCAGCAGATGGCACGTTGGATTTAGTCTGTGAATCTGAATTGGATGGTACA
GATATGGCCGAGGCAAATGCCCATGGAGAAGAAAATGGAGTTTGTTCGAAGCAGGTAACTGATGAAGCATCTTCCACTCGAGATTCAAGCCTTACTAACACAGCA
GTGCAAAGCAAGTTAGTGTCTTCCTTCCAGCAGCACACCAAAAAGGCTCTTAAACAGGCTTTGAGGCAGCAGCAGAAAAGAAGAAATGGAGTCTCAATGATGGTA
AACAAGACTGTTCCTCGTGTTGTTTTGACACCATTAAAGGTGTCTGATGAGCAGTCGGATTCGCCTTCAGGATCTGAATCTAAAAATGGTGAAGCAGACAGTTCA
GATAAAGAAATGAAACATGGGCAAAAATCTCCCACTGGAAAACAAACAAGTCAGCACTTAAAACGATTAAAAAAGTCTGGTTTAGGGCACTTGAAATGGACCAAA
GCTGAGGACATTGACATAGAAACCCCAGGATCTATTCTTGTCAACACTAACTTGAGGGCATTAATAAATAAACATACGTTTGCTTCCTTACCTCAGCATTTTCAA
CAATACCTCCTGCTTTTGCTCCCAGAAGTGGATAGGCAGATGGGAAGTGATGGAATTTTACGCCTCAGTACTTCAGCTCTAAATAATGAATTCTTTGCATATGCA
GCACAAGGGTGGAAACAGCGACTGGCAGAAGGAGAGTTTACCCCAGAAATGCAGTTGCGGATAAGGCAAGAAATTGAGAAGGAAAAGAAAACAGAACCTTGGAAA
GAAAAATTCTTTGAGAGGTTTTATGGAGAAAAGCTGGGCATGTCAAGAGAGGAATCTGTGAAGCTCACTACTGGACCAAACAACGCTGGAGCTCAAAGTAGTTCT
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>ASXL3|80816|protein
MKDKRKKKDRTWAEAARLALEKHPNSPMTAKQILEVIQKEGLKETSGTSPLACLNAMLHTNTRIGDGTFFKIPGKSGLYALKKEESSCPADGTLDLVCESELDGT
DMAEANAHGEENGVCSKQVTDEASSTRDSSLTNTAVQSKLVSSFQQHTKKALKQALRQQQKRRNGVSMMVNKTVPRVVLTPLKVSDEQSDSPSGSESKNGEADSS
DKEMKHGQKSPTGKQTSQHLKRLKKSGLGHLKWTKAEDIDIETPGSILVNTNLRALINKHTFASLPQHFQQYLLLLLPEVDRQMGSDGILRLSTSALNNEFFAYA
AQGWKQRLAEGEFTPEMQLRIRQEIEKEKKTEPWKEKFFERFYGEKLGMSREESVKLTTGPNNAGAQSSSSCGTSGLPVSAQTALAEQQPKSMKSPASPEPGFCA
TLCPMVEIPPKDIMAELESEDILIPEESVIQEEIAEEVETSICECQDENHKTIPEFSEEAESLTNSHEEPQIAPPEDNLESCVMMNDVLETLPHIEVKIEGKSES
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MKDKRKKKDRTWAEAARLALEKHPNSPMTAKQILEVIQKEGLKETSGTSPLACLNAMLHTNTRIGDGTFFKIPGKSGLYALKKEESSCPADGTLDLVCESELDGT
DMAEANAHGEENGVCSKQVTDEASSTRDSSLTNTAVQSKLVSSFQQHTKKALKQALRQQQKRRNGVSMMVNKTVPRVVLTPLKVSDEQSDSPSGSESKNGEADSS
DKEMKHGQKSPTGKQTSQHLKRLKKSGLGHLKWTKAEDIDIETPGSILVNTNLRALINKHTFASLPQHFQQYLLLLLPEVDRQMGSDGILRLSTSALNNEFFAYA
AQGWKQRLAEGEFTPEMQLRIRQEIEKEKKTEPWKEKFFERFYGEKLGMSREESVKLTTGPNNAGAQSSSSCGTSGLPVSAQTALAEQQPKSMKSPASPEPGFCA
TLCPMVEIPPKDIMAELESEDILIPEESVIQEEIAEEVETSICECQDENHKTIPEFSEEAESLTNSHEEPQIAPPEDNLESCVMMNDVLETLPHIEVKIEGKSES
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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 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (3) | 0 (0) | 0 (2) | 0 (0) | 2 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage 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 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
| Zhao JJ, 2018 | 1 | - | 1 | Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | |  | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
| Bowling KM, 2017 | - | - | - | - | ASD | - | - | - | 8 | - |
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.