Evidence Details for DYNC1I1
Basic Information Top
Gene Symbol: | DYNC1I1 ( DNCI1,DNCIC1 ) |
---|---|
Gene Full Name: | dynein, cytoplasmic 1, intermediate chain 1 |
Band: | 7q21.3 |
Quick Links | Entrez ID:1780; OMIM: 603772; Uniprot ID:DC1I1_HUMAN; ENSEMBL ID: ENSG00000158560; HGNC ID: 2963 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DYNC1I1|1780|nucleotide
ATGTCTGACAAAAGTGACTTAAAAGCTGAGCTAGAGCGCAAAAAGCAGCGCTTAGCACAGATAAGAGAAGAGAAGAAACGGAAGGAAGAGGAGAGGAAAAAGAAA
GAGGCTGATATGCAGCAGAAGAAAGAACCCGTTCAGGACGACTCTGATCTGGATCGCAAACGACGAGAGACAGAGGCTTTGCTGCAAAGCATTGGTATCTCACCG
GAGCCGCCTCTAGTCCCAACCCCTATGTCTCCCTCCTCGAAATCAGTGAGCACTCCCAGTGAAGCTGGAAGCCAAGACTCAGGCGATCTGGGGCCATTAACAAGG
ACCCTGCAGTGGGACACAGACCCCTCAGTGCTCCAGCTGCAGTCAGACTCAGAACTTGGAAGAAGACTGCATAAACTGGGCGTGTCAAAGGTCACCCAAGTGGAT
TTCCTGCCAAGGGAAGTAGTGTCCTACTCAAAGGAGACCCAGACTCCTCTTGCCACGCATCAGTCTGAAGAGGATGAGGAAGATGAGGAAATGGTGGAATCTAAA
GTTGGCCAGGACTCAGAACTGGAAAATCAGGACAAAAAACAGGAAGTGAAGGAAGCCCCTCCAAGAGAGTTGACAGAGGAAGAAAAACAGCAGATCCTTCATTCA
GAGGAATTTCTCATCTTTTTTGACCGGACAATACGGGTAATTGAAAGAGCCCTGGCTGAAGATTCCGACATCTTTTTTGACTACAGCGGCCGAGAGTTAGAGGAA
AAAGATGGGGATGTTCAGGCTGGAGCCAATCTTTCTTTCAATCGTCAGTTCTATGATGAACATTGGTCCAAGCATCGAGTGGTCACTTGTATGGACTGGTCCCTC
CAGTACCCTGAGCTGATGGTGGCTTCTTACAACAACAATGAAGATGCTCCCCATGAACCAGATGGAGTGGCCTTGGTTTGGAACATGAAGTTTAAGAAAACCACA
CCAGAATACGTCTTCCACTGTCAGTCCTCTGTGATGTCGGTCTGCTTCGCCCGTTTCCATCCTAACTTGGTGGTTGGTGGGACTTACTCGGGCCAGATTGTCCTC
TGGGACAATCGCAGTCATCGAAGGACTCCAGTGCAGCGGACACCCTTATCAGCTGCTGCACACACGCATCCCGTGTACTGTGTAAATGTTGTTGGGACCCAGAAT
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ATGTCTGACAAAAGTGACTTAAAAGCTGAGCTAGAGCGCAAAAAGCAGCGCTTAGCACAGATAAGAGAAGAGAAGAAACGGAAGGAAGAGGAGAGGAAAAAGAAA
GAGGCTGATATGCAGCAGAAGAAAGAACCCGTTCAGGACGACTCTGATCTGGATCGCAAACGACGAGAGACAGAGGCTTTGCTGCAAAGCATTGGTATCTCACCG
GAGCCGCCTCTAGTCCCAACCCCTATGTCTCCCTCCTCGAAATCAGTGAGCACTCCCAGTGAAGCTGGAAGCCAAGACTCAGGCGATCTGGGGCCATTAACAAGG
ACCCTGCAGTGGGACACAGACCCCTCAGTGCTCCAGCTGCAGTCAGACTCAGAACTTGGAAGAAGACTGCATAAACTGGGCGTGTCAAAGGTCACCCAAGTGGAT
TTCCTGCCAAGGGAAGTAGTGTCCTACTCAAAGGAGACCCAGACTCCTCTTGCCACGCATCAGTCTGAAGAGGATGAGGAAGATGAGGAAATGGTGGAATCTAAA
GTTGGCCAGGACTCAGAACTGGAAAATCAGGACAAAAAACAGGAAGTGAAGGAAGCCCCTCCAAGAGAGTTGACAGAGGAAGAAAAACAGCAGATCCTTCATTCA
GAGGAATTTCTCATCTTTTTTGACCGGACAATACGGGTAATTGAAAGAGCCCTGGCTGAAGATTCCGACATCTTTTTTGACTACAGCGGCCGAGAGTTAGAGGAA
AAAGATGGGGATGTTCAGGCTGGAGCCAATCTTTCTTTCAATCGTCAGTTCTATGATGAACATTGGTCCAAGCATCGAGTGGTCACTTGTATGGACTGGTCCCTC
CAGTACCCTGAGCTGATGGTGGCTTCTTACAACAACAATGAAGATGCTCCCCATGAACCAGATGGAGTGGCCTTGGTTTGGAACATGAAGTTTAAGAAAACCACA
CCAGAATACGTCTTCCACTGTCAGTCCTCTGTGATGTCGGTCTGCTTCGCCCGTTTCCATCCTAACTTGGTGGTTGGTGGGACTTACTCGGGCCAGATTGTCCTC
TGGGACAATCGCAGTCATCGAAGGACTCCAGTGCAGCGGACACCCTTATCAGCTGCTGCACACACGCATCCCGTGTACTGTGTAAATGTTGTTGGGACCCAGAAT
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>DYNC1I1|1780|protein
MSDKSDLKAELERKKQRLAQIREEKKRKEEERKKKEADMQQKKEPVQDDSDLDRKRRETEALLQSIGISPEPPLVPTPMSPSSKSVSTPSEAGSQDSGDLGPLTR
TLQWDTDPSVLQLQSDSELGRRLHKLGVSKVTQVDFLPREVVSYSKETQTPLATHQSEEDEEDEEMVESKVGQDSELENQDKKQEVKEAPPRELTEEEKQQILHS
EEFLIFFDRTIRVIERALAEDSDIFFDYSGRELEEKDGDVQAGANLSFNRQFYDEHWSKHRVVTCMDWSLQYPELMVASYNNNEDAPHEPDGVALVWNMKFKKTT
PEYVFHCQSSVMSVCFARFHPNLVVGGTYSGQIVLWDNRSHRRTPVQRTPLSAAAHTHPVYCVNVVGTQNAHNLITVSTDGKMCSWSLDMLSTPQESMELVYNKS
KPVAVTGMAFPTGDVNNFVVGSEEGTVYTACRHGSKAGIGEVFEGHQGPVTGINCHMAVGPIDFSHLFVTSSFDWTVKLWTTKHNKPLYSFEDNADYVYDVMWSP
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MSDKSDLKAELERKKQRLAQIREEKKRKEEERKKKEADMQQKKEPVQDDSDLDRKRRETEALLQSIGISPEPPLVPTPMSPSSKSVSTPSEAGSQDSGDLGPLTR
TLQWDTDPSVLQLQSDSELGRRLHKLGVSKVTQVDFLPREVVSYSKETQTPLATHQSEEDEEDEEMVESKVGQDSELENQDKKQEVKEAPPRELTEEEKQQILHS
EEFLIFFDRTIRVIERALAEDSDIFFDYSGRELEEKDGDVQAGANLSFNRQFYDEHWSKHRVVTCMDWSLQYPELMVASYNNNEDAPHEPDGVALVWNMKFKKTT
PEYVFHCQSSVMSVCFARFHPNLVVGGTYSGQIVLWDNRSHRRTPVQRTPLSAAAHTHPVYCVNVVGTQNAHNLITVSTDGKMCSWSLDMLSTPQESMELVYNKS
KPVAVTGMAFPTGDVNNFVVGSEEGTVYTACRHGSKAGIGEVFEGHQGPVTGINCHMAVGPIDFSHLFVTSSFDWTVKLWTTKHNKPLYSFEDNADYVYDVMWSP
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Evidence summary Top
Click 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) | 0 (0) | 0 (0) | 2 (2) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.719574 | Down | 0.349478 | |||
| ||||||||||||
Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | - | autism | 6 (0.00%) |
0.911068 | Down | 0.480185 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS 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 |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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