Evidence Details for ERICH1
Basic Information Top
| Gene Symbol: | ERICH1 ( - ) |
|---|---|
| Gene Full Name: | glutamate-rich 1 |
| Band: | 8p23.3 |
| Quick Links | Entrez ID:157697; OMIM: NA; Uniprot ID:ERIC1_HUMAN; ENSEMBL ID: ENSG00000104714; HGNC ID: 27234 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ERICH1|157697|nucleotide
ATGGCGGCGCACAGGAAGCACGTGTTTGTGGAGAAGGTGCTGCAGAGACTTTTTCCTCCTGTTCCAAGTGGCCAAGGAAAGAGGGAACCCCAGACGCTGGCCGTC
CAAAATCCACCAAAGAAAGTGACCTCTGAGAAAGTGAGCCAGAAACATGCTGAGCCTTTGACAGACACTGGCTCTGAGACCCCGACTGCCCGACGGCTCTACACT
GCCAGCGGGCCTCCTGAGGGCTACGTCCCCTGTTGGCCGGAGCCCAGCAGCTGTGGGAGCCCCGAGAACGCCTCCAGCGGGGATGACACAGAAGATCAGGATCCT
CATGACCAGCCAAAGAGAAGAAGAATTAGGAAGCATAAATCAAAGAAAAAATTTAAAAATCCCAATAATGTTCTTATAGAACAAGCAGAATTAGAGAAACAGCAG
AGTCTGTTACAGGAGAAATCTCAGCGACAGCACACAGATGGCACCACAATAAGCAAAAATAAAAAAAGGAAACTGAAAAAGAAACAGCAAATTAAAAGGAAGAAA
GCAGCCGGCTTGGCAGCAAAGGCTGCTGGTGTCAGTTTCATGTACCAGCCCGAGGACAGCAGCAATGAAGGGGAAGGCGTGGGAGAGGCTTGTGAGGAGGATGGT
GTGGACACCAGCGAGGAAGACCCGACACTGGCCGGGGAGGAAGACGTTAAAGATACCAGGGAGGAAGATGGTGCGGACGCTAGCGAGGAAGACCTGACACGGGCC
AGGCAGGAAGAGGGTGCGGACGCCAGTGAGGAAGATCCGACACCGGCCGGGGAGGAAGACGTTAAAGACGCCAGGGAGGAGGACGGTGTGGACACCATTGAGGAA
GACCTGACACGGGCCGGGGAGGAAGACGGTAAAGACACCAGGGAGGAGGACGGTGCGGACGCCAGCGAGGAAGACCCGACATGGGCTGGGGAGGAAGAGGGTGCA
GACTCCGGGGAGGAGGACGGTGCAGACGCCAGCGAGGAAGATGATACAATTACCAATGAAAAGGCACACAGTATTCTAAATTTTTTGAAGTCAACACAGGAAATG
TATTTTTATGACGGTGTCTCCAGAGATGCAGCTTCAGCTGCCCTCGCAGATGCCGCTGAGGAGCTGCTGGACCGCCTCGCGTCACACAGCATGCTGCCCTCAGAC
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ATGGCGGCGCACAGGAAGCACGTGTTTGTGGAGAAGGTGCTGCAGAGACTTTTTCCTCCTGTTCCAAGTGGCCAAGGAAAGAGGGAACCCCAGACGCTGGCCGTC
CAAAATCCACCAAAGAAAGTGACCTCTGAGAAAGTGAGCCAGAAACATGCTGAGCCTTTGACAGACACTGGCTCTGAGACCCCGACTGCCCGACGGCTCTACACT
GCCAGCGGGCCTCCTGAGGGCTACGTCCCCTGTTGGCCGGAGCCCAGCAGCTGTGGGAGCCCCGAGAACGCCTCCAGCGGGGATGACACAGAAGATCAGGATCCT
CATGACCAGCCAAAGAGAAGAAGAATTAGGAAGCATAAATCAAAGAAAAAATTTAAAAATCCCAATAATGTTCTTATAGAACAAGCAGAATTAGAGAAACAGCAG
AGTCTGTTACAGGAGAAATCTCAGCGACAGCACACAGATGGCACCACAATAAGCAAAAATAAAAAAAGGAAACTGAAAAAGAAACAGCAAATTAAAAGGAAGAAA
GCAGCCGGCTTGGCAGCAAAGGCTGCTGGTGTCAGTTTCATGTACCAGCCCGAGGACAGCAGCAATGAAGGGGAAGGCGTGGGAGAGGCTTGTGAGGAGGATGGT
GTGGACACCAGCGAGGAAGACCCGACACTGGCCGGGGAGGAAGACGTTAAAGATACCAGGGAGGAAGATGGTGCGGACGCTAGCGAGGAAGACCTGACACGGGCC
AGGCAGGAAGAGGGTGCGGACGCCAGTGAGGAAGATCCGACACCGGCCGGGGAGGAAGACGTTAAAGACGCCAGGGAGGAGGACGGTGTGGACACCATTGAGGAA
GACCTGACACGGGCCGGGGAGGAAGACGGTAAAGACACCAGGGAGGAGGACGGTGCGGACGCCAGCGAGGAAGACCCGACATGGGCTGGGGAGGAAGAGGGTGCA
GACTCCGGGGAGGAGGACGGTGCAGACGCCAGCGAGGAAGATGATACAATTACCAATGAAAAGGCACACAGTATTCTAAATTTTTTGAAGTCAACACAGGAAATG
TATTTTTATGACGGTGTCTCCAGAGATGCAGCTTCAGCTGCCCTCGCAGATGCCGCTGAGGAGCTGCTGGACCGCCTCGCGTCACACAGCATGCTGCCCTCAGAC
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>ERICH1|157697|protein
MAAHRKHVFVEKVLQRLFPPVPSGQGKREPQTLAVQNPPKKVTSEKVSQKHAEPLTDTGSETPTARRLYTASGPPEGYVPCWPEPSSCGSPENASSGDDTEDQDP
HDQPKRRRIRKHKSKKKFKNPNNVLIEQAELEKQQSLLQEKSQRQHTDGTTISKNKKRKLKKKQQIKRKKAAGLAAKAAGVSFMYQPEDSSNEGEGVGEACEEDG
VDTSEEDPTLAGEEDVKDTREEDGADASEEDLTRARQEEGADASEEDPTPAGEEDVKDAREEDGVDTIEEDLTRAGEEDGKDTREEDGADASEEDPTWAGEEEGA
DSGEEDGADASEEDDTITNEKAHSILNFLKSTQEMYFYDGVSRDAASAALADAAEELLDRLASHSMLPSDVSILYHMKTLLLLQDTERLKHALEMFPEHCTMPPD
HARVISAFFSYWITHILPEKSSD
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MAAHRKHVFVEKVLQRLFPPVPSGQGKREPQTLAVQNPPKKVTSEKVSQKHAEPLTDTGSETPTARRLYTASGPPEGYVPCWPEPSSCGSPENASSGDDTEDQDP
HDQPKRRRIRKHKSKKKFKNPNNVLIEQAELEKQQSLLQEKSQRQHTDGTTISKNKKRKLKKKQQIKRKKAAGLAAKAAGVSFMYQPEDSSNEGEGVGEACEEDG
VDTSEEDPTLAGEEDVKDTREEDGADASEEDLTRARQEEGADASEEDPTPAGEEDVKDAREEDGVDTIEEDLTRAGEEDGKDTREEDGADASEEDPTWAGEEEGA
DSGEEDGADASEEDDTITNEKAHSILNFLKSTQEMYFYDGVSRDAASAALADAAEELLDRLASHSMLPSDVSILYHMKTLLLLQDTERLKHALEMFPEHCTMPPD
HARVISAFFSYWITHILPEKSSD
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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) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (1) | 0 (0) | 0 (0) | 2 (6) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Yu, 2002 | USA | STS mapping |  | | PDD | 105 | - | 105 | - | - | 668 | 668 |
| Papanikolaou, 2006 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top