Evidence Details for ERGIC3
Basic Information Top
| Gene Symbol: | ERGIC3 ( C20orf47,CGI-54,Erv46,NY-BR-84,PRO0989,SDBCAG84,dJ477O4.2 ) |
|---|---|
| Gene Full Name: | ERGIC and golgi 3 |
| Band: | 20q11.22 |
| Quick Links | Entrez ID:51614; OMIM: NA; Uniprot ID:ERGI3_HUMAN; ENSEMBL ID: ENSG00000125991; HGNC ID: 15927 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ERGIC3|51614|nucleotide
ATGGAGGCGCTGGGGAAGCTGAAGCAGTTCGATGCCTACCCCAAGACTTTGGAGGACTTCCGGGTCAAGACCTGCGGGGGCGCCACCGTGACCATTGTCAGTGGC
CTTCTCATGCTGCTACTGTTCCTGTCCGAGCTGCAGTATTACCTCACCACGGAGGTGCATCCTGAGCTCTACGTGGACAAGTCGCGGGGAGATAAACTGAAGATC
AACATCGATGTACTTTTTCCGCACATGCCTTGTGCCTATCTGAGTATTGATGCCATGGATGTGGCCGGAGAACAGCAGCTGGATGTGGAACACAACCTGTTCAAG
CAACGACTAGATAAAGATGGCATCCCCGTGAGCTCAGAGGCTGAGCGGCATGAGCTTGGGAAAGTCGAGGTGACGGTGTTTGACCCTGACTCCCTGGACCCTGAT
CGCTGTGAGAGCTGCTATGGTGCTGAGGCAGAAGATATCAAGTGCTGTAACACCTGTGAAGATGTGCGGGAGGCATATCGCCGTAGAGGCTGGGCCTTCAAGAAC
CCAGATACTATTGAGCAGTGCCGGCGAGAGGGCTTCAGCCAGAAGATGCAGGAGCAGAAGAATGAAGGCTGCCAGGTGTATGGCTTCTTGGAAGTCAATAAGGTG
GCCGGAAACTTCCACTTTGCCCCTGGGAAGAGCTTCCAGCAGTCCCATGTGCACGTCCATGACTTGCAGAGCTTTGGCCTTGACAACATCAACATGACCCACTAC
ATCCAGCACCTGTCATTTGGGGAGGACTATCCAGGCATTGTGAACCCCCTGGACCACACCAATGTCACTGCGCCCCAAGCCTCCATGATGTTCCAGTACTTTGTG
AAGGTGGTGCCCACTGTGTACATGAAGGTGGACGGAGAGGTACTGAGGACAAATCAGTTCTCTGTGACCAGACATGAGAAGGTTGCCAATGGGCTGTTGGGCGAC
CAAGGCCTTCCCGGAGTCTTCGTCCTCTATGAGCTCTCGCCCATGATGGTGAAGCTGACGGAGAAGCACAGGTCCTTCACCCACTTCCTGACAGGTGTGTGCGCC
ATCATTGGGGGCATGTTCACAGTGGCTGGACTCATCGATTCGCTCATCTACCACTCAGCACGAGCCATCCAGAAGAAAATTGATCTAGGGAAGACAACGTAG
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ATGGAGGCGCTGGGGAAGCTGAAGCAGTTCGATGCCTACCCCAAGACTTTGGAGGACTTCCGGGTCAAGACCTGCGGGGGCGCCACCGTGACCATTGTCAGTGGC
CTTCTCATGCTGCTACTGTTCCTGTCCGAGCTGCAGTATTACCTCACCACGGAGGTGCATCCTGAGCTCTACGTGGACAAGTCGCGGGGAGATAAACTGAAGATC
AACATCGATGTACTTTTTCCGCACATGCCTTGTGCCTATCTGAGTATTGATGCCATGGATGTGGCCGGAGAACAGCAGCTGGATGTGGAACACAACCTGTTCAAG
CAACGACTAGATAAAGATGGCATCCCCGTGAGCTCAGAGGCTGAGCGGCATGAGCTTGGGAAAGTCGAGGTGACGGTGTTTGACCCTGACTCCCTGGACCCTGAT
CGCTGTGAGAGCTGCTATGGTGCTGAGGCAGAAGATATCAAGTGCTGTAACACCTGTGAAGATGTGCGGGAGGCATATCGCCGTAGAGGCTGGGCCTTCAAGAAC
CCAGATACTATTGAGCAGTGCCGGCGAGAGGGCTTCAGCCAGAAGATGCAGGAGCAGAAGAATGAAGGCTGCCAGGTGTATGGCTTCTTGGAAGTCAATAAGGTG
GCCGGAAACTTCCACTTTGCCCCTGGGAAGAGCTTCCAGCAGTCCCATGTGCACGTCCATGACTTGCAGAGCTTTGGCCTTGACAACATCAACATGACCCACTAC
ATCCAGCACCTGTCATTTGGGGAGGACTATCCAGGCATTGTGAACCCCCTGGACCACACCAATGTCACTGCGCCCCAAGCCTCCATGATGTTCCAGTACTTTGTG
AAGGTGGTGCCCACTGTGTACATGAAGGTGGACGGAGAGGTACTGAGGACAAATCAGTTCTCTGTGACCAGACATGAGAAGGTTGCCAATGGGCTGTTGGGCGAC
CAAGGCCTTCCCGGAGTCTTCGTCCTCTATGAGCTCTCGCCCATGATGGTGAAGCTGACGGAGAAGCACAGGTCCTTCACCCACTTCCTGACAGGTGTGTGCGCC
ATCATTGGGGGCATGTTCACAGTGGCTGGACTCATCGATTCGCTCATCTACCACTCAGCACGAGCCATCCAGAAGAAAATTGATCTAGGGAAGACAACGTAG
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>ERGIC3|51614|protein
MEALGKLKQFDAYPKTLEDFRVKTCGGATVTIVSGLLMLLLFLSELQYYLTTEVHPELYVDKSRGDKLKINIDVLFPHMPCAYLSIDAMDVAGEQQLDVEHNLFK
QRLDKDGIPVSSEAERHELGKVEVTVFDPDSLDPDRCESCYGAEAEDIKCCNTCEDVREAYRRRGWAFKNPDTIEQCRREGFSQKMQEQKNEGCQVYGFLEVNKV
AGNFHFAPGKSFQQSHVHVHDLQSFGLDNINMTHYIQHLSFGEDYPGIVNPLDHTNVTAPQASMMFQYFVKVVPTVYMKVDGEVLRTNQFSVTRHEKVANGLLGD
QGLPGVFVLYELSPMMVKLTEKHRSFTHFLTGVCAIIGGMFTVAGLIDSLIYHSARAIQKKIDLGKTT
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MEALGKLKQFDAYPKTLEDFRVKTCGGATVTIVSGLLMLLLFLSELQYYLTTEVHPELYVDKSRGDKLKINIDVLFPHMPCAYLSIDAMDVAGEQQLDVEHNLFK
QRLDKDGIPVSSEAERHELGKVEVTVFDPDSLDPDRCESCYGAEAEDIKCCNTCEDVREAYRRRGWAFKNPDTIEQCRREGFSQKMQEQKNEGCQVYGFLEVNKV
AGNFHFAPGKSFQQSHVHVHDLQSFGLDNINMTHYIQHLSFGEDYPGIVNPLDHTNVTAPQASMMFQYFVKVVPTVYMKVDGEVLRTNQFSVTRHEKVANGLLGD
QGLPGVFVLYELSPMMVKLTEKHRSFTHFLTGVCAIIGGMFTVAGLIDSLIYHSARAIQKKIDLGKTT
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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 (1) | 1 (1) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 13 (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 | ||||||
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen |  | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
Low Scale Association Studies (by Ethnic Group) TopLarge 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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Baron, 2006_1 | America | human EBV-transformed lymphoblastoid cell lines | 3 (33.33%) | |  | - | autism | 3 (33.33%) |
1.48 | Up | 0.01 | |
| ||||||||||||
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 |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
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.