Evidence Details for DNM3
Basic Information Top
| Gene Symbol: | DNM3 ( KIAA0820,MGC70433 ) |
|---|---|
| Gene Full Name: | dynamin 3 |
| Band: | 1q24.3 |
| Quick Links | Entrez ID:26052; OMIM: 611445; Uniprot ID:DYN3_HUMAN; ENSEMBL ID: ENSG00000197959; HGNC ID: 29125 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DNM3|26052|nucleotide
ATGGGGAACCGGGAGATGGAGGAGCTGATCCCGCTGGTGAACCGTCTGCAGGACGCGTTTTCGGCGCTGGGACAGAGCTGCCTGCTGGAGCTGCCGCAGATCGCC
GTGGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTCGAGAACTTCGTGGGCAGGGACTTTCTCCCTCGAGGGTCGGGCATTGTAACAAGACGACCTCTTGTG
CTGCAGCTTGTTACTTCTAAAGCAGAATATGCCGAGTTTCTACATTGCAAAGGAAAGAAATTTACAGATTTTGATGAAGTTCGCCTTGAGATTGAAGCAGAAACA
GATCGCGTGACTGGAATGAATAAAGGCATTTCCTCCATACCCATTAATTTACGAGTCTATTCCCCACACGTGTTAAATCTAACCCTTATTGATCTACCTGGAATA
ACTAAAGTGCCTGTGGGAGATCAGCCACCAGATATCGAGTATCAGATCAGAGAAATGATTATGCAGTTCATCACGAGGGAGAACTGTCTGATTTTAGCTGTTACT
CCAGCCAACACTGATCTTGCAAACTCAGATGCGCTGAAGCTAGCTAAAGAAGTTGATCCTCAAGGTCTGAGAACCATTGGAGTTATCACCAAACTGGACCTTATG
GATGAAGGAACGGATGCCAGGGATGTTCTAGAGAACAAACTGTTGCCTCTTCGCAGGGGTTACGTGGGGGTGGTAAACAGAAGCCAGAAGGACATAGATGGGAAG
AAGGACATAAAGGCAGCCATGCTGGCAGAGAGGAAGTTTTTCCTTTCCCACCCGGCTTACAGACATATCGCTGACCGAATGGGAACCCCACACCTGCAGAAGGTC
CTTAATCAGCAACTTACCAACCACATTCGGGATACCCTACCAAACTTCAGGAACAAACTACAGGGACAGTTGCTCTCCATAGAACATGAAGTAGAAGCCTACAAA
AATTTCAAACCAGAAGACCCAACAAGGAAGACCAAAGCATTGCTGCAGATGGTTCAGCAATTTGCTGTGGACTTTGAGAAGAGAATTGAAGGGTCAGGGGATCAA
GTAGATACCCTGGAACTCTCAGGTGGTGCTAAAATCAATCGTATTTTTCATGAACGCTTTCCTTTTGAGATAGTAAAGATGGAGTTCAATGAGAAAGAATTGCGA
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ATGGGGAACCGGGAGATGGAGGAGCTGATCCCGCTGGTGAACCGTCTGCAGGACGCGTTTTCGGCGCTGGGACAGAGCTGCCTGCTGGAGCTGCCGCAGATCGCC
GTGGTGGGCGGCCAGAGCGCCGGCAAGAGCTCGGTGCTCGAGAACTTCGTGGGCAGGGACTTTCTCCCTCGAGGGTCGGGCATTGTAACAAGACGACCTCTTGTG
CTGCAGCTTGTTACTTCTAAAGCAGAATATGCCGAGTTTCTACATTGCAAAGGAAAGAAATTTACAGATTTTGATGAAGTTCGCCTTGAGATTGAAGCAGAAACA
GATCGCGTGACTGGAATGAATAAAGGCATTTCCTCCATACCCATTAATTTACGAGTCTATTCCCCACACGTGTTAAATCTAACCCTTATTGATCTACCTGGAATA
ACTAAAGTGCCTGTGGGAGATCAGCCACCAGATATCGAGTATCAGATCAGAGAAATGATTATGCAGTTCATCACGAGGGAGAACTGTCTGATTTTAGCTGTTACT
CCAGCCAACACTGATCTTGCAAACTCAGATGCGCTGAAGCTAGCTAAAGAAGTTGATCCTCAAGGTCTGAGAACCATTGGAGTTATCACCAAACTGGACCTTATG
GATGAAGGAACGGATGCCAGGGATGTTCTAGAGAACAAACTGTTGCCTCTTCGCAGGGGTTACGTGGGGGTGGTAAACAGAAGCCAGAAGGACATAGATGGGAAG
AAGGACATAAAGGCAGCCATGCTGGCAGAGAGGAAGTTTTTCCTTTCCCACCCGGCTTACAGACATATCGCTGACCGAATGGGAACCCCACACCTGCAGAAGGTC
CTTAATCAGCAACTTACCAACCACATTCGGGATACCCTACCAAACTTCAGGAACAAACTACAGGGACAGTTGCTCTCCATAGAACATGAAGTAGAAGCCTACAAA
AATTTCAAACCAGAAGACCCAACAAGGAAGACCAAAGCATTGCTGCAGATGGTTCAGCAATTTGCTGTGGACTTTGAGAAGAGAATTGAAGGGTCAGGGGATCAA
GTAGATACCCTGGAACTCTCAGGTGGTGCTAAAATCAATCGTATTTTTCATGAACGCTTTCCTTTTGAGATAGTAAAGATGGAGTTCAATGAGAAAGAATTGCGA
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>DNM3|26052|protein
MGNREMEELIPLVNRLQDAFSALGQSCLLELPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLVLQLVTSKAEYAEFLHCKGKKFTDFDEVRLEIEAET
DRVTGMNKGISSIPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIREMIMQFITRENCLILAVTPANTDLANSDALKLAKEVDPQGLRTIGVITKLDLM
DEGTDARDVLENKLLPLRRGYVGVVNRSQKDIDGKKDIKAAMLAERKFFLSHPAYRHIADRMGTPHLQKVLNQQLTNHIRDTLPNFRNKLQGQLLSIEHEVEAYK
NFKPEDPTRKTKALLQMVQQFAVDFEKRIEGSGDQVDTLELSGGAKINRIFHERFPFEIVKMEFNEKELRREISYAIKNIHGIRTGLFTPDMAFEAIVKKQIVKL
KGPSLKSVDLVIQELINTVKKCTKKLANFPRLCEETERIVANHIREREGKTKDQVLLLIDIQVSYINTNHEDFIGFANAQQRSSQVHKKTTVGNQVIRKGWLTIS
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MGNREMEELIPLVNRLQDAFSALGQSCLLELPQIAVVGGQSAGKSSVLENFVGRDFLPRGSGIVTRRPLVLQLVTSKAEYAEFLHCKGKKFTDFDEVRLEIEAET
DRVTGMNKGISSIPINLRVYSPHVLNLTLIDLPGITKVPVGDQPPDIEYQIREMIMQFITRENCLILAVTPANTDLANSDALKLAKEVDPQGLRTIGVITKLDLM
DEGTDARDVLENKLLPLRRGYVGVVNRSQKDIDGKKDIKAAMLAERKFFLSHPAYRHIADRMGTPHLQKVLNQQLTNHIRDTLPNFRNKLQGQLLSIEHEVEAYK
NFKPEDPTRKTKALLQMVQQFAVDFEKRIEGSGDQVDTLELSGGAKINRIFHERFPFEIVKMEFNEKELRREISYAIKNIHGIRTGLFTPDMAFEAIVKKQIVKL
KGPSLKSVDLVIQELINTVKKCTKKLANFPRLCEETERIVANHIREREGKTKDQVLLLIDIQVSYINTNHEDFIGFANAQQRSSQVHKKTTVGNQVIRKGWLTIS
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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) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
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 | ||||||
| Asadollahi R, 2014 | - | CMA | - | - | NDDs | - | - | - | - | 714 | 2528 | 3242 |
| Egger G, 2014 | Austria | Microarray | - | - | ASD | 73 | - | - | - | 245 | 2357 | - |
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 |
|---|---|---|---|---|
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
NGS 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.