Evidence Details for ICA1
Basic Information Top
| Gene Symbol: | ICA1 ( ICA69,ICAp69 ) |
|---|---|
| Gene Full Name: | islet cell autoantigen 1, 69kDa |
| Band: | 7p21.3 |
| Quick Links | Entrez ID:3382; OMIM: 147625; Uniprot ID:ICA69_HUMAN; ENSEMBL ID: ENSG00000003147; HGNC ID: 5343 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ICA1|3382|nucleotide
ATGTCAGGACACAAATGCAGTTATCCCTGGGACTTACAGGATCGATATGCTCAAGATAAGTCAGTTGTAAATAAGATGCAACAGAAATATTGGGAGACGAAGCAG
GCCTTTATTAAAGCCACAGGGAAGAAGGAAGATGAACATGTTGTTGCCTCTGACGCGGACCTGGATGCCAAGCTAGAGCTGTTTCATTCAATTCAGAGAACCTGT
CTGGACTTATCGAAAGCAATTGTACTCTATCAAAAGAGGATATGTTTCTTGTCTCAAGAAGAAAACGAACTGGGAAAATTTCTTCGATCCCAAGGTTTCCAAGAT
AAAACCAGAGCAGGAAAGATGATGCAAGCGACAGGAAAGGCCCTCTGCTTTTCTTCCCAGCAAAGGTTGGCCTTACGAAATCCTTTGTGTCGATTTCACCAAGAA
GTGGAGACTTTTCGGCATCGGGCCATCTCAGATACTTGGCTGACGGTGAACCGCATGGAACAGTGCAGGACGGAATATAGAGGAGCACTATTATGGATGAAGGAC
GTGTCTCAGGAGCTTGATCCAGACCTCTACAAGCAAATGGAGAAGTTCAGGAAGGTACAAACACAAGTGCGCCTTGCAAAAAAAAACTTTGACAAATTGAAGATG
GATGTTTGTCAAAAAGTGGATCTTCTTGGAGCGAGCAGATGCAATCTCTTGTCTCACATGCTAGCAACATACCAGACCACTCTGCTTCATTTTTGGGAGAAAACT
TCTCACACTATGGCAGCCATCCATGAGAGTTTCAAAGGTTATCAACCATATGAATTTACTACTTTAAAGAGCTTACAAGACCCTATGAAAAAATTAGTTGAGAAA
GAAGAGAAGAAGAAAATCAACCAGCAGGAAAGTACAGATGCAGCCGTGCAGGAGCCGAGCCAATTAATTTCATTAGAGGAAGAAAACCAGCGCAAGGAATCCTCT
AGTTTTAAGACTGAAGATGGAAAAAGTATTTTATCTGCCTTAGACAAAGGCTCTACACATACTGCATGCTCAGGACCCATAGATGAACTATTAGACATGAAATCT
GAGGAAGGTGCTTGCCTGGGACCAGTGGCAGGGACCCCGGAACCTGAAGGTGCTGACAAAGATGACCTGCTGCTGTTGAGTGAGATCTTCAATGCTTCCTCCTTG
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ATGTCAGGACACAAATGCAGTTATCCCTGGGACTTACAGGATCGATATGCTCAAGATAAGTCAGTTGTAAATAAGATGCAACAGAAATATTGGGAGACGAAGCAG
GCCTTTATTAAAGCCACAGGGAAGAAGGAAGATGAACATGTTGTTGCCTCTGACGCGGACCTGGATGCCAAGCTAGAGCTGTTTCATTCAATTCAGAGAACCTGT
CTGGACTTATCGAAAGCAATTGTACTCTATCAAAAGAGGATATGTTTCTTGTCTCAAGAAGAAAACGAACTGGGAAAATTTCTTCGATCCCAAGGTTTCCAAGAT
AAAACCAGAGCAGGAAAGATGATGCAAGCGACAGGAAAGGCCCTCTGCTTTTCTTCCCAGCAAAGGTTGGCCTTACGAAATCCTTTGTGTCGATTTCACCAAGAA
GTGGAGACTTTTCGGCATCGGGCCATCTCAGATACTTGGCTGACGGTGAACCGCATGGAACAGTGCAGGACGGAATATAGAGGAGCACTATTATGGATGAAGGAC
GTGTCTCAGGAGCTTGATCCAGACCTCTACAAGCAAATGGAGAAGTTCAGGAAGGTACAAACACAAGTGCGCCTTGCAAAAAAAAACTTTGACAAATTGAAGATG
GATGTTTGTCAAAAAGTGGATCTTCTTGGAGCGAGCAGATGCAATCTCTTGTCTCACATGCTAGCAACATACCAGACCACTCTGCTTCATTTTTGGGAGAAAACT
TCTCACACTATGGCAGCCATCCATGAGAGTTTCAAAGGTTATCAACCATATGAATTTACTACTTTAAAGAGCTTACAAGACCCTATGAAAAAATTAGTTGAGAAA
GAAGAGAAGAAGAAAATCAACCAGCAGGAAAGTACAGATGCAGCCGTGCAGGAGCCGAGCCAATTAATTTCATTAGAGGAAGAAAACCAGCGCAAGGAATCCTCT
AGTTTTAAGACTGAAGATGGAAAAAGTATTTTATCTGCCTTAGACAAAGGCTCTACACATACTGCATGCTCAGGACCCATAGATGAACTATTAGACATGAAATCT
GAGGAAGGTGCTTGCCTGGGACCAGTGGCAGGGACCCCGGAACCTGAAGGTGCTGACAAAGATGACCTGCTGCTGTTGAGTGAGATCTTCAATGCTTCCTCCTTG
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>ICA1|3382|protein
MSGHKCSYPWDLQDRYAQDKSVVNKMQQKYWETKQAFIKATGKKEDEHVVASDADLDAKLELFHSIQRTCLDLSKAIVLYQKRICFLSQEENELGKFLRSQGFQD
KTRAGKMMQATGKALCFSSQQRLALRNPLCRFHQEVETFRHRAISDTWLTVNRMEQCRTEYRGALLWMKDVSQELDPDLYKQMEKFRKVQTQVRLAKKNFDKLKM
DVCQKVDLLGASRCNLLSHMLATYQTTLLHFWEKTSHTMAAIHESFKGYQPYEFTTLKSLQDPMKKLVEKEEKKKINQQESTDAAVQEPSQLISLEEENQRKESS
SFKTEDGKSILSALDKGSTHTACSGPIDELLDMKSEEGACLGPVAGTPEPEGADKDDLLLLSEIFNASSLEEGEFSKEWAAVFGDGQVKEPVPTMALGEPDPKAQ
TGSGFLPSQLLDQNMKDLQASLQEPAKAASDLTAWFSLFADLDPLSNPDAVGKTDKEHELLNA
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MSGHKCSYPWDLQDRYAQDKSVVNKMQQKYWETKQAFIKATGKKEDEHVVASDADLDAKLELFHSIQRTCLDLSKAIVLYQKRICFLSQEENELGKFLRSQGFQD
KTRAGKMMQATGKALCFSSQQRLALRNPLCRFHQEVETFRHRAISDTWLTVNRMEQCRTEYRGALLWMKDVSQELDPDLYKQMEKFRKVQTQVRLAKKNFDKLKM
DVCQKVDLLGASRCNLLSHMLATYQTTLLHFWEKTSHTMAAIHESFKGYQPYEFTTLKSLQDPMKKLVEKEEKKKINQQESTDAAVQEPSQLISLEEENQRKESS
SFKTEDGKSILSALDKGSTHTACSGPIDELLDMKSEEGACLGPVAGTPEPEGADKDDLLLLSEIFNASSLEEGEFSKEWAAVFGDGQVKEPVPTMALGEPDPKAQ
TGSGFLPSQLLDQNMKDLQASLQEPAKAASDLTAWFSLFADLDPLSNPDAVGKTDKEHELLNA
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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 (0) | 0 (2) | 0 (0) | 0 (0) | 2 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (4) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Cukier, 2011 | - | SNP microarray |  | | ASD | 1 | - | 1 | - | - | - | - |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge 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%) |
0.75094 | Down | - | |
| ||||||||||||
| Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | | | - | autism | 16 (6.25%) |
0.715348 | Down | - | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
0.729707 | Down | 0.031029 | |
| ||||||||||||
| Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | | | - | autism | 6 (0.00%) |
0.719476 | Down | 0.029252 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies TopNGS 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.