Evidence Details for ARRDC3
Basic Information Top
| Gene Symbol: | ARRDC3 ( KIAA1376,TLIMP ) |
|---|---|
| Gene Full Name: | arrestin domain containing 3 |
| Band: | 5q14.3 |
| Quick Links | Entrez ID:57561; OMIM: 612464; Uniprot ID:ARRD3_HUMAN; ENSEMBL ID: ENSG00000113369; HGNC ID: 29263 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ARRDC3|57561|nucleotide
ATGGTGCTGGGAAAGGTGAAGAGTTTGACAATAAGCTTTGACTGTCTTAATGACAGCAATGTCCCTGTGTATTCTAGTGGGGATACCGTCTCAGGAAGGGTAAAT
TTAGAAGTTACTGGGGAAATCAGAGTAAAATCTCTTAAAATTCATGCAAGAGGACATGCGAAAGTACGCTGGACTGAATCTAGAAACGCCGGCTCCAATACTGCC
TATACACAGAATTACACTGAAGAAGTAGAGTATTTCAACCATAAAGACATCTTAATTGGGCACGAAAGAGATGATGATAATTCCGAAGAAGGCTTCCACACTATT
CATTCAGGAAGGCATGAATATGCATTCAGCTTCGAGCTTCCACAGACACCACTCGCTACCTCATTCGAAGGCCGACATGGCAGTGTGCGCTATTGGGTGAAAGCC
GAATTGCACAGGCCTTGGCTACTACCAGTAAAATTAAAGAAGGAATTTACAGTCTTTGAGCATATAGATATCAACACTCCTTCATTACTGTCACCCCAAGCAGGC
ACAAAAGAAAAGACACTCTGTTGCTGGTTCTGTACCTCAGGCCCAATATCCTTAAGTGCCAAAATTGAAAGGAAGGGCTATACCCCAGGTGAATCAATTCAGATA
TTTGCTGAGATTGAGAACTGCTCTTCCCGAATGGTGGTGCCAAAGGCAGCCATTTACCAAACACAGGCCTTCTATGCCAAAGGGAAAATGAAGGAAGTAAAACAG
CTTGTGGCTAACTTGCGTGGGGAATCCTTATCATCTGGAAAGACAGAGACGTGGAATGGCAAGTTGCTGAAAATTCCACCAGTTTCTCCCTCTATCCTCGACTGT
AGTATAATCCGCGTGGAATATTCACTAATGGTATATGTGGATATTCCTGGAGCTATGGATTTATTTCTTAATTTGCCACTTGTCATCGGTACCATTCCTCTACAT
CCATTTGGTAGCAGAACCTCAAGTGTAAGCAGTCAGTGTAGCATGAATATGAACTGGCTCAGTTTATCACTTCCTGAAAGACCTGAAGCACCACCCAGCTATGCA
GAAGTGGTAACAGAGGAACAAAGGCGGAACAATCTTGCACCAGTGAGTGCTTGTGATGACTTTGAGAGAGCCCTTCAAGGACCACTGTTTGCATATATCCAGGAG
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ATGGTGCTGGGAAAGGTGAAGAGTTTGACAATAAGCTTTGACTGTCTTAATGACAGCAATGTCCCTGTGTATTCTAGTGGGGATACCGTCTCAGGAAGGGTAAAT
TTAGAAGTTACTGGGGAAATCAGAGTAAAATCTCTTAAAATTCATGCAAGAGGACATGCGAAAGTACGCTGGACTGAATCTAGAAACGCCGGCTCCAATACTGCC
TATACACAGAATTACACTGAAGAAGTAGAGTATTTCAACCATAAAGACATCTTAATTGGGCACGAAAGAGATGATGATAATTCCGAAGAAGGCTTCCACACTATT
CATTCAGGAAGGCATGAATATGCATTCAGCTTCGAGCTTCCACAGACACCACTCGCTACCTCATTCGAAGGCCGACATGGCAGTGTGCGCTATTGGGTGAAAGCC
GAATTGCACAGGCCTTGGCTACTACCAGTAAAATTAAAGAAGGAATTTACAGTCTTTGAGCATATAGATATCAACACTCCTTCATTACTGTCACCCCAAGCAGGC
ACAAAAGAAAAGACACTCTGTTGCTGGTTCTGTACCTCAGGCCCAATATCCTTAAGTGCCAAAATTGAAAGGAAGGGCTATACCCCAGGTGAATCAATTCAGATA
TTTGCTGAGATTGAGAACTGCTCTTCCCGAATGGTGGTGCCAAAGGCAGCCATTTACCAAACACAGGCCTTCTATGCCAAAGGGAAAATGAAGGAAGTAAAACAG
CTTGTGGCTAACTTGCGTGGGGAATCCTTATCATCTGGAAAGACAGAGACGTGGAATGGCAAGTTGCTGAAAATTCCACCAGTTTCTCCCTCTATCCTCGACTGT
AGTATAATCCGCGTGGAATATTCACTAATGGTATATGTGGATATTCCTGGAGCTATGGATTTATTTCTTAATTTGCCACTTGTCATCGGTACCATTCCTCTACAT
CCATTTGGTAGCAGAACCTCAAGTGTAAGCAGTCAGTGTAGCATGAATATGAACTGGCTCAGTTTATCACTTCCTGAAAGACCTGAAGCACCACCCAGCTATGCA
GAAGTGGTAACAGAGGAACAAAGGCGGAACAATCTTGCACCAGTGAGTGCTTGTGATGACTTTGAGAGAGCCCTTCAAGGACCACTGTTTGCATATATCCAGGAG
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>ARRDC3|57561|protein
MVLGKVKSLTISFDCLNDSNVPVYSSGDTVSGRVNLEVTGEIRVKSLKIHARGHAKVRWTESRNAGSNTAYTQNYTEEVEYFNHKDILIGHERDDDNSEEGFHTI
HSGRHEYAFSFELPQTPLATSFEGRHGSVRYWVKAELHRPWLLPVKLKKEFTVFEHIDINTPSLLSPQAGTKEKTLCCWFCTSGPISLSAKIERKGYTPGESIQI
FAEIENCSSRMVVPKAAIYQTQAFYAKGKMKEVKQLVANLRGESLSSGKTETWNGKLLKIPPVSPSILDCSIIRVEYSLMVYVDIPGAMDLFLNLPLVIGTIPLH
PFGSRTSSVSSQCSMNMNWLSLSLPERPEAPPSYAEVVTEEQRRNNLAPVSACDDFERALQGPLFAYIQEFRFLPPPLYSEIDPNPDQSADDRPSCPSR
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MVLGKVKSLTISFDCLNDSNVPVYSSGDTVSGRVNLEVTGEIRVKSLKIHARGHAKVRWTESRNAGSNTAYTQNYTEEVEYFNHKDILIGHERDDDNSEEGFHTI
HSGRHEYAFSFELPQTPLATSFEGRHGSVRYWVKAELHRPWLLPVKLKKEFTVFEHIDINTPSLLSPQAGTKEKTLCCWFCTSGPISLSAKIERKGYTPGESIQI
FAEIENCSSRMVVPKAAIYQTQAFYAKGKMKEVKQLVANLRGESLSSGKTETWNGKLLKIPPVSPSILDCSIIRVEYSLMVYVDIPGAMDLFLNLPLVIGTIPLH
PFGSRTSSVSSQCSMNMNWLSLSLPERPEAPPSYAEVVTEEQRRNNLAPVSACDDFERALQGPLFAYIQEFRFLPPPLYSEIDPNPDQSADDRPSCPSR
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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 (1) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 3 (3) |
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 | ||||||
| Ezugha, 2010 | - | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies Top