Evidence Details for ERGIC2
Basic Information Top
| Gene Symbol: | ERGIC2 ( Erv41,MGC111152,PTX1,cd002 ) |
|---|---|
| Gene Full Name: | ERGIC and golgi 2 |
| Band: | 12p11.22 |
| Quick Links | Entrez ID:51290; OMIM: 612236; Uniprot ID:ERGI2_HUMAN; ENSEMBL ID: ENSG00000087502; HGNC ID: 30208 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ERGIC2|51290|nucleotide
ATGAGGCGACTGAATCGGAAAAAAACTTTAAGTTTGGTAAAAGAGTTGGATGCCTTTCCGAAGGTTCCTGAGAGCTATGTAGAGACTTCAGCCAGTGGAGGTACA
GTTTCTCTAATAGCATTTACAACTATGGCTTTATTAACCATAATGGAATTCTCAGTATATCAAGATACATGGATGAAGTATGAATACGAAGTAGACAAGGATTTT
TCTAGCAAATTAAGAATTAATATAGATATTACTGTTGCCATGAAGTGTCAATATGTTGGAGCGGATGTATTGGATTTAGCAGAAACAATGGTTGCATCTGCAGAT
GGTTTAGTTTATGAACCAACAGTATTTGATCTTTCACCACAGCAGAAAGAGTGGCAGAGGATGCTGCAGCTGATTCAGAGTAGGCTACAAGAAGAGCATTCACTT
CAAGATGTGATATTTAAAAGTGCTTTTAAAAGTACATCAACAGCTCTTCCACCAAGAGAAGATGATTCATCACAGTCTCCAAATGCATGCAGAATTCATGGCCAT
CTATATGTCAATAAAGTAGCAGGGAATTTTCACATAACAGTGGGCAAGGCAATTCCACATCCTCGTGGTCATGCACATTTGGCAGCACTTGTCAACCATGAATCT
TACAATTTTTCTCATAGAATAGATCATTTGTCTTTTGGAGAGCTTGTTCCAGCAATTATTAATCCTTTAGATGGAACTGAAAAAATTGCTATAGATCACAACCAG
ATGTTCCAATATTTTATTACAGTTGTGCCAACAAAACTACATACATATAAAATATCAGCAGACACCCATCAGTTTTCTGTGACAGAAAGGGAACGTATCATTAAC
CATGCTGCAGGCAGCCATGGAGTCTCTGGGATATTTATGAAATATGATCTCAGTTCTCTTATGGTGACAGTTACTGAGGAGCACATGCCATTCTGGCAGTTTTTT
GTAAGACTCTGTGGTATTGTTGGAGGAATCTTTTCAACAACAGGCATGTTACATGGAATTGGAAAATTTATAGTTGAAATAATTTGCTGTCGTTTCAGACTTGGA
TCCTATAAACCTGTCAATTCTGTTCCTTTTGAGGATGGCCACACAGACAACCACTTACCTCTTTTAGAAAATAATACACATTAA
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ATGAGGCGACTGAATCGGAAAAAAACTTTAAGTTTGGTAAAAGAGTTGGATGCCTTTCCGAAGGTTCCTGAGAGCTATGTAGAGACTTCAGCCAGTGGAGGTACA
GTTTCTCTAATAGCATTTACAACTATGGCTTTATTAACCATAATGGAATTCTCAGTATATCAAGATACATGGATGAAGTATGAATACGAAGTAGACAAGGATTTT
TCTAGCAAATTAAGAATTAATATAGATATTACTGTTGCCATGAAGTGTCAATATGTTGGAGCGGATGTATTGGATTTAGCAGAAACAATGGTTGCATCTGCAGAT
GGTTTAGTTTATGAACCAACAGTATTTGATCTTTCACCACAGCAGAAAGAGTGGCAGAGGATGCTGCAGCTGATTCAGAGTAGGCTACAAGAAGAGCATTCACTT
CAAGATGTGATATTTAAAAGTGCTTTTAAAAGTACATCAACAGCTCTTCCACCAAGAGAAGATGATTCATCACAGTCTCCAAATGCATGCAGAATTCATGGCCAT
CTATATGTCAATAAAGTAGCAGGGAATTTTCACATAACAGTGGGCAAGGCAATTCCACATCCTCGTGGTCATGCACATTTGGCAGCACTTGTCAACCATGAATCT
TACAATTTTTCTCATAGAATAGATCATTTGTCTTTTGGAGAGCTTGTTCCAGCAATTATTAATCCTTTAGATGGAACTGAAAAAATTGCTATAGATCACAACCAG
ATGTTCCAATATTTTATTACAGTTGTGCCAACAAAACTACATACATATAAAATATCAGCAGACACCCATCAGTTTTCTGTGACAGAAAGGGAACGTATCATTAAC
CATGCTGCAGGCAGCCATGGAGTCTCTGGGATATTTATGAAATATGATCTCAGTTCTCTTATGGTGACAGTTACTGAGGAGCACATGCCATTCTGGCAGTTTTTT
GTAAGACTCTGTGGTATTGTTGGAGGAATCTTTTCAACAACAGGCATGTTACATGGAATTGGAAAATTTATAGTTGAAATAATTTGCTGTCGTTTCAGACTTGGA
TCCTATAAACCTGTCAATTCTGTTCCTTTTGAGGATGGCCACACAGACAACCACTTACCTCTTTTAGAAAATAATACACATTAA
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>ERGIC2|51290|protein
MRRLNRKKTLSLVKELDAFPKVPESYVETSASGGTVSLIAFTTMALLTIMEFSVYQDTWMKYEYEVDKDFSSKLRINIDITVAMKCQYVGADVLDLAETMVASAD
GLVYEPTVFDLSPQQKEWQRMLQLIQSRLQEEHSLQDVIFKSAFKSTSTALPPREDDSSQSPNACRIHGHLYVNKVAGNFHITVGKAIPHPRGHAHLAALVNHES
YNFSHRIDHLSFGELVPAIINPLDGTEKIAIDHNQMFQYFITVVPTKLHTYKISADTHQFSVTERERIINHAAGSHGVSGIFMKYDLSSLMVTVTEEHMPFWQFF
VRLCGIVGGIFSTTGMLHGIGKFIVEIICCRFRLGSYKPVNSVPFEDGHTDNHLPLLENNTH
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MRRLNRKKTLSLVKELDAFPKVPESYVETSASGGTVSLIAFTTMALLTIMEFSVYQDTWMKYEYEVDKDFSSKLRINIDITVAMKCQYVGADVLDLAETMVASAD
GLVYEPTVFDLSPQQKEWQRMLQLIQSRLQEEHSLQDVIFKSAFKSTSTALPPREDDSSQSPNACRIHGHLYVNKVAGNFHITVGKAIPHPRGHAHLAALVNHES
YNFSHRIDHLSFGELVPAIINPLDGTEKIAIDHNQMFQYFITVVPTKLHTYKISADTHQFSVTERERIINHAAGSHGVSGIFMKYDLSSLMVTVTEEHMPFWQFF
VRLCGIVGGIFSTTGMLHGIGKFIVEIICCRFRLGSYKPVNSVPFEDGHTDNHLPLLENNTH
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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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (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 | ||||||
| Soysal, 2011 | - | aCGH | - | - | ASD | - | - | - | - | 1 | - | 1 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Linkage Studies Top