Evidence Details for CSMD3
Basic Information Top
| Gene Symbol: | CSMD3 ( KIAA1894 ) |
|---|---|
| Gene Full Name: | CUB and Sushi multiple domains 3 |
| Band: | 8q23.3 |
| Quick Links | Entrez ID:114788; OMIM: 608399; Uniprot ID:CSMD3_HUMAN; ENSEMBL ID: ENSG00000164796; HGNC ID: 19291 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CSMD3|114788|nucleotide
ATGAAAGGGATCCGCAAAGGGGAAAGCCGAGCAAAGGAATCCAAACCCTGGGAGCCTGGCAAGCGAAGATGCGCTAAATGTGGCCGCCTAGACTTCATCCTGATG
AAGAAAATGGGGATTAAAAGTGGATTTACGTTTTGGAACCTCGTCTTTTTATTGACGGTGTCTTGTGTGAAAGGATTTATTTATACATGTGGTGGAACTTTAAAA
GGACTTAATGGCACTATAGAAAGCCCTGGTTTTCCATATGGATATCCAAATGGTGCAAACTGCACATGGGTAATAATAGCAGAAGAACGAAATAGAATACAAATT
GTTTTTCAGTCATTTGCTCTAGAAGAAGAATACGACTACTTATCATTATATGATGGACATCCTCATCCTACAAACTTTAGGACAAGGTTAACAGGATTCCATCTG
CCACCTCCAGTGACAAGTACCAAATCTGTGTTCTCACTACGTTTGACCAGTGATTTTGCAGTTAGTGCTCATGGATTTAAGGTATATTACGAAGAATTGCAGAGT
AGCTCTTGTGGAAATCCTGGTGTTCCACCCAAAGGTGTATTATATGGCACAAGATTCGACGTCGGGGACAAGATCCGCTACAGCTGTGTAACTGGATACATCCTT
GATGGCCACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGCTTCGTGGGATTTTCCTGTTCCTATCTGTAGAGCTGAAGATGCTTGTGGAGGAACAATG
AGAGGATCCAGTGGCATCATATCCAGCCCTAGTTTTCCTAATGAGTACCATAACAATGCTGATTGCACTTGGACCATTGTAGCAGAGCCTGGGGACACAATTTCA
CTCATATTTACTGATTTTCAAATGGAAGAGAAATATGATTACTTAGAAATAGAAGGTTCTGAGCCACCTACCATATGGTTATCTGGAATGAATATACCACCACCA
ATTATCAGCAACAAAAACTGGCTCAGACTGCATTTTGTTACAGACAGCAATCATCGATACCGTGGATTTAGTGCTCCCTATCAAGTGAAAAAGGCCATAGATTTT
AAATCTAGAGGATTTAAATTGTTTCCAGGGAAAGACAACAGCAACAAGTTTTCTATCTTAAATGAGGGAGGTATTAAAACAGCTTCCAATTTATGCCCAGATCCA
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ATGAAAGGGATCCGCAAAGGGGAAAGCCGAGCAAAGGAATCCAAACCCTGGGAGCCTGGCAAGCGAAGATGCGCTAAATGTGGCCGCCTAGACTTCATCCTGATG
AAGAAAATGGGGATTAAAAGTGGATTTACGTTTTGGAACCTCGTCTTTTTATTGACGGTGTCTTGTGTGAAAGGATTTATTTATACATGTGGTGGAACTTTAAAA
GGACTTAATGGCACTATAGAAAGCCCTGGTTTTCCATATGGATATCCAAATGGTGCAAACTGCACATGGGTAATAATAGCAGAAGAACGAAATAGAATACAAATT
GTTTTTCAGTCATTTGCTCTAGAAGAAGAATACGACTACTTATCATTATATGATGGACATCCTCATCCTACAAACTTTAGGACAAGGTTAACAGGATTCCATCTG
CCACCTCCAGTGACAAGTACCAAATCTGTGTTCTCACTACGTTTGACCAGTGATTTTGCAGTTAGTGCTCATGGATTTAAGGTATATTACGAAGAATTGCAGAGT
AGCTCTTGTGGAAATCCTGGTGTTCCACCCAAAGGTGTATTATATGGCACAAGATTCGACGTCGGGGACAAGATCCGCTACAGCTGTGTAACTGGATACATCCTT
GATGGCCACCCTCAGCTCACCTGCATAGCCAATTCAGTTAATACAGCTTCGTGGGATTTTCCTGTTCCTATCTGTAGAGCTGAAGATGCTTGTGGAGGAACAATG
AGAGGATCCAGTGGCATCATATCCAGCCCTAGTTTTCCTAATGAGTACCATAACAATGCTGATTGCACTTGGACCATTGTAGCAGAGCCTGGGGACACAATTTCA
CTCATATTTACTGATTTTCAAATGGAAGAGAAATATGATTACTTAGAAATAGAAGGTTCTGAGCCACCTACCATATGGTTATCTGGAATGAATATACCACCACCA
ATTATCAGCAACAAAAACTGGCTCAGACTGCATTTTGTTACAGACAGCAATCATCGATACCGTGGATTTAGTGCTCCCTATCAAGTGAAAAAGGCCATAGATTTT
AAATCTAGAGGATTTAAATTGTTTCCAGGGAAAGACAACAGCAACAAGTTTTCTATCTTAAATGAGGGAGGTATTAAAACAGCTTCCAATTTATGCCCAGATCCA
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>CSMD3|114788|protein
MKGIRKGESRAKESKPWEPGKRRCAKCGRLDFILMKKMGIKSGFTFWNLVFLLTVSCVKGFIYTCGGTLKGLNGTIESPGFPYGYPNGANCTWVIIAEERNRIQI
VFQSFALEEEYDYLSLYDGHPHPTNFRTRLTGFHLPPPVTSTKSVFSLRLTSDFAVSAHGFKVYYEELQSSSCGNPGVPPKGVLYGTRFDVGDKIRYSCVTGYIL
DGHPQLTCIANSVNTASWDFPVPICRAEDACGGTMRGSSGIISSPSFPNEYHNNADCTWTIVAEPGDTISLIFTDFQMEEKYDYLEIEGSEPPTIWLSGMNIPPP
IISNKNWLRLHFVTDSNHRYRGFSAPYQVKKAIDFKSRGFKLFPGKDNSNKFSILNEGGIKTASNLCPDPGEPENGKRIGSDFSLGSTVQFSCDEDYVLQGAKSI
TCQRIAEVFAAWSDHRPVCKVKTCGSNLQGPSGTFTSPNFPFQYDSNAQCVWVITAVNTNKVIQINFEEFDLEIGYDTLTIGDGGEVGDPRTVLQVLTGSFVPDL
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MKGIRKGESRAKESKPWEPGKRRCAKCGRLDFILMKKMGIKSGFTFWNLVFLLTVSCVKGFIYTCGGTLKGLNGTIESPGFPYGYPNGANCTWVIIAEERNRIQI
VFQSFALEEEYDYLSLYDGHPHPTNFRTRLTGFHLPPPVTSTKSVFSLRLTSDFAVSAHGFKVYYEELQSSSCGNPGVPPKGVLYGTRFDVGDKIRYSCVTGYIL
DGHPQLTCIANSVNTASWDFPVPICRAEDACGGTMRGSSGIISSPSFPNEYHNNADCTWTIVAEPGDTISLIFTDFQMEEKYDYLEIEGSEPPTIWLSGMNIPPP
IISNKNWLRLHFVTDSNHRYRGFSAPYQVKKAIDFKSRGFKLFPGKDNSNKFSILNEGGIKTASNLCPDPGEPENGKRIGSDFSLGSTVQFSCDEDYVLQGAKSI
TCQRIAEVFAAWSDHRPVCKVKTCGSNLQGPSGTFTSPNFPFQYDSNAQCVWVITAVNTNKVIQINFEEFDLEIGYDTLTIGDGGEVGDPRTVLQVLTGSFVPDL
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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 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 1 (3) | 0 (1) | 0 (1) | 1 (1) | 20 (8) |
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 |
Linkage Studies TopLow 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 |
|---|---|---|---|---|
| Michaelson JJ, 2012 | - | 10 | 565 | Whole-genome sequencing in autism identifies hot spots for de novo germline mutation. |
| C Yuen RK, 2017 | 1625 | - | 237 | Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. |
| Takata A, 2018 | 262 | 262 | 322 | Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di |
NGS Mosaic SNV Studies Top| Reference | Case Number | Family Number | Mosaic Number | Title |
|---|---|---|---|---|
| Dou Y, 2017 | - | 2361 | 230 | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and |
NGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
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.