Evidence Details for ARPC5
Basic Information Top
Gene Symbol: | ARPC5 ( ARC16,MGC88523,dJ127C7.3,p16-Arc ) |
---|---|
Gene Full Name: | actin related protein 2/3 complex, subunit 5, 16kDa |
Band: | 1q25.3 |
Quick Links | Entrez ID:10092; OMIM: 604227; Uniprot ID:ARPC5_HUMAN; ENSEMBL ID: ENSG00000162704; HGNC ID: 708 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ARPC5|10092|nucleotide
ATGTCGAAGAACACAGTGTCGTCGGCCCGCTTCCGGAAGGTGGACGTGGATGAATATGACGAGAACAAGTTCGTGGACGAAGAAGATGGGGGCGACGGCCAGGCC
GGGCCCGACGAGGGCGAGGTGGACTCCTGCCTGCGGCAAGGAAACATGACAGCTGCCCTACAGGCAGCTCTGAAGAACCCCCCTATCAACACCAAGAGTCAGGCA
GTGAAGGACCGGGCAGGCAGCATTGTCTTGAAGGTGCTCATCTCTTTTAAAGCTAATGATATAGAAAAGGCAGTTCAATCTCTGGACAAGAATGGTGTGGATCTC
CTAATGAAGTATATTTATAAAGGATTTGAGAGCCCGTCTGACAATAGCAGTGCTATGTTACTGCAATGGCATGAAAAGGCACTTGCTGCTGGAGGAGTAGGGTCC
ATTGTTCGTGTCTTGACTGCAAGAAAAACTGTGTAG
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ATGTCGAAGAACACAGTGTCGTCGGCCCGCTTCCGGAAGGTGGACGTGGATGAATATGACGAGAACAAGTTCGTGGACGAAGAAGATGGGGGCGACGGCCAGGCC
GGGCCCGACGAGGGCGAGGTGGACTCCTGCCTGCGGCAAGGAAACATGACAGCTGCCCTACAGGCAGCTCTGAAGAACCCCCCTATCAACACCAAGAGTCAGGCA
GTGAAGGACCGGGCAGGCAGCATTGTCTTGAAGGTGCTCATCTCTTTTAAAGCTAATGATATAGAAAAGGCAGTTCAATCTCTGGACAAGAATGGTGTGGATCTC
CTAATGAAGTATATTTATAAAGGATTTGAGAGCCCGTCTGACAATAGCAGTGCTATGTTACTGCAATGGCATGAAAAGGCACTTGCTGCTGGAGGAGTAGGGTCC
ATTGTTCGTGTCTTGACTGCAAGAAAAACTGTGTAG
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>ARPC5|10092|protein
MSKNTVSSARFRKVDVDEYDENKFVDEEDGGDGQAGPDEGEVDSCLRQGNMTAALQAALKNPPINTKSQAVKDRAGSIVLKVLISFKANDIEKAVQSLDKNGVDL
LMKYIYKGFESPSDNSSAMLLQWHEKALAAGGVGSIVRVLTARKTV
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MSKNTVSSARFRKVDVDEYDENKFVDEEDGGDGQAGPDEGEVDSCLRQGNMTAALQAALKNPPINTKSQAVKDRAGSIVLKVLISFKANDIEKAVQSLDKNGVDL
LMKYIYKGFESPSDNSSAMLLQWHEKALAAGGVGSIVRVLTARKTV
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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) | 1 (3) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (4) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Bremer, 2011 | - | aCGH | ASD | - | - | - | - | 223 | - | 223 | ||
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Brand H, 2015 | - | CMA;WGS | - | - | ASD | - | - | - | - | 259 | - | 259 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
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%) |
1.11395 | Up | 2.68739 | |||
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Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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