Evidence Details for ERGIC1
Basic Information Top
| Gene Symbol: | ERGIC1 ( ERGIC-32,ERGIC32,FLJ39864,KIAA1181,MGC14345,NET24 ) |
|---|---|
| Gene Full Name: | endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 |
| Band: | 5q35.1 |
| Quick Links | Entrez ID:57222; OMIM: NA; Uniprot ID:ERGI1_HUMAN; ENSEMBL ID: ENSG00000113719; HGNC ID: 29205 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ERGIC1|57222|nucleotide
ATGCCCTTTGACTTCAGGAGGTTTGACATCTACAGGAAGGTGCCCAAGGACCTTACGCAGCCAACGTACACCGGGGCCATTATCTCCATCTGCTGCTGCCTCTTC
ATCCTCTTCCTCTTCCTCTCGGAGCTCACCGGATTTATAACGACAGAAGTTGTGAACGAGCTCTATGTCGATGACCCAGACAAGGACAGCGGTGGCAAGATCGAC
GTCAGTCTGAACATCAGTTTACCCAATCTGCACTGCGAGTTGGTTGGGCTTGACATTCAGGATGAGATGGGCAGGCACGAAGTGGGCCACATCGACAACTCCATG
AAGATCCCGCTGAACAATGGGGCAGGCTGCCGCTTCGAGGGGCAGTTCAGCATCAACAAGGTCCCCGGCAACTTCCACGTGTCCACACACAGTGCCACAGCCCAG
CCACAGAACCCAGACATGACGCATGTCATCCACAAGCTCTCCTTTGGGGACACGCTACAGGTCCAGAACATCCACGGAGCTTTCAATGCTCTCGGGGGAGCAGAC
AGACTCACCTCCAACCCCCTGGCCTCCCACGACTACATCCTGAAGATTGTGCCCACGGTTTATGAGGACAAGAGTGGCAAGCAGCGGTACTCCTACCAGTACACG
GTGGCCAACAAGGAATACGTCGCCTACAGCCACACGGGCCGCATCATCCCTGCAATCTGGTTCCGCTACGACCTCAGCCCCATCACGGTCAAGTACACAGAGAGA
CGGCAGCCGCTGTACAGATTCATCACCACGATCTGTGCCATCATTGGCGGGACCTTCACCGTCGCCGGCATCCTGGACTCATGCATCTTCACAGCCTCTGAGGCC
TGGAAGAAGATCCAGCTGGGCAAGATGCATTGA
Show »
ATGCCCTTTGACTTCAGGAGGTTTGACATCTACAGGAAGGTGCCCAAGGACCTTACGCAGCCAACGTACACCGGGGCCATTATCTCCATCTGCTGCTGCCTCTTC
ATCCTCTTCCTCTTCCTCTCGGAGCTCACCGGATTTATAACGACAGAAGTTGTGAACGAGCTCTATGTCGATGACCCAGACAAGGACAGCGGTGGCAAGATCGAC
GTCAGTCTGAACATCAGTTTACCCAATCTGCACTGCGAGTTGGTTGGGCTTGACATTCAGGATGAGATGGGCAGGCACGAAGTGGGCCACATCGACAACTCCATG
AAGATCCCGCTGAACAATGGGGCAGGCTGCCGCTTCGAGGGGCAGTTCAGCATCAACAAGGTCCCCGGCAACTTCCACGTGTCCACACACAGTGCCACAGCCCAG
CCACAGAACCCAGACATGACGCATGTCATCCACAAGCTCTCCTTTGGGGACACGCTACAGGTCCAGAACATCCACGGAGCTTTCAATGCTCTCGGGGGAGCAGAC
AGACTCACCTCCAACCCCCTGGCCTCCCACGACTACATCCTGAAGATTGTGCCCACGGTTTATGAGGACAAGAGTGGCAAGCAGCGGTACTCCTACCAGTACACG
GTGGCCAACAAGGAATACGTCGCCTACAGCCACACGGGCCGCATCATCCCTGCAATCTGGTTCCGCTACGACCTCAGCCCCATCACGGTCAAGTACACAGAGAGA
CGGCAGCCGCTGTACAGATTCATCACCACGATCTGTGCCATCATTGGCGGGACCTTCACCGTCGCCGGCATCCTGGACTCATGCATCTTCACAGCCTCTGAGGCC
TGGAAGAAGATCCAGCTGGGCAAGATGCATTGA
Show »
>ERGIC1|57222|protein
MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSELTGFITTEVVNELYVDDPDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMGRHEVGHIDNSM
KIPLNNGAGCRFEGQFSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDKSGKQRYSYQYT
VANKEYVAYSHTGRIIPAIWFRYDLSPITVKYTERRQPLYRFITTICAIIGGTFTVAGILDSCIFTASEAWKKIQLGKMH
Show »
MPFDFRRFDIYRKVPKDLTQPTYTGAIISICCCLFILFLFLSELTGFITTEVVNELYVDDPDKDSGGKIDVSLNISLPNLHCELVGLDIQDEMGRHEVGHIDNSM
KIPLNNGAGCRFEGQFSINKVPGNFHVSTHSATAQPQNPDMTHVIHKLSFGDTLQVQNIHGAFNALGGADRLTSNPLASHDYILKIVPTVYEDKSGKQRYSYQYT
VANKEYVAYSHTGRIIPAIWFRYDLSPITVKYTERRQPLYRFITTICAIIGGTFTVAGILDSCIFTASEAWKKIQLGKMH
Show »
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) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
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 | ||||||
| Bucan, 2009 | USA | SNP microarray |  |  | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top