Evidence Details for EIF2AK1
Basic Information Top
| Gene Symbol: | EIF2AK1 ( HCR,HRI,KIAA1369 ) |
|---|---|
| Gene Full Name: | eukaryotic translation initiation factor 2-alpha kinase 1 |
| Band: | 7p22.1 |
| Quick Links | Entrez ID:27102; OMIM: NA; Uniprot ID:E2AK1_HUMAN; ENSEMBL ID: ENSG00000086232; HGNC ID: 24921 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>EIF2AK1|27102|nucleotide
ATGCAGGGGGGCAACTCCGGGGTCCGCAAGCGCGAAGAGGAGGGCGACGGGGCTGGGGCTGTGGCTGCGCCGCCGGCCATCGACTTTCCCGCCGAGGGCCCGGAC
CCCGAATATGACGAATCTGATGTTCCAGCAGAAATCCAGGTGTTAAAAGAACCCCTACAACAGCCAACCTTCCCTTTTGCAGTTGCAAACCAACTCTTGCTGGTT
TCTTTGCTGGAGCACTTGAGCCACGTGCATGAACCAAACCCACTTCGTTCAAGACAGGTGTTTAAGCTACTTTGCCAGACGTTTATCAAAATGGGGCTGCTGTCT
TCTTTCACTTGTAGTGACGAGTTTAGCTCATTGAGACTACATCACAACAGAGCTATTACTCACTTAATGAGGTCTGCTAAAGAGAGAGTTCGTCAGGATCCTTGT
GAGGATATTTCTCGTATCCAGAAAATCAGATCAAGGGAAGTAGCCTTGGAAGCACAAACTTCACGTTACTTAAATGAATTTGAAGAACTTGCCATCTTAGGAAAA
GGTGGATACGGAAGAGTATACAAGGTCAGGAATAAATTAGATGGTCAGTATTATGCAATAAAAAAAATCCTGATTAAGGGTGCAACTAAAACAGTTTGCATGAAG
GTCCTACGGGAAGTGAAGGTGCTGGCAGGTCTTCAGCACCCCAATATTGTTGGCTATCACACCGCGTGGATAGAACATGTTCATGTGATTCAGCCACGAGACAGA
GCTGCCATTGAGTTGCCATCTCTGGAAGTGCTCTCCGACCAGGAAGAGGACAGAGAGCAATGTGGTGTTAAAAATGATGAAAGTAGCAGCTCATCCATTATCTTT
GCTGAGCCCACCCCAGAAAAAGAAAAACGCTTTGGAGAATCTGACACTGAAAATCAGAATAACAAGTCGGTGAAGTACACCACCAATTTAGTCATAAGAGAATCT
GGTGAACTTGAGTCGACCCTGGAGCTCCAGGAAAATGGCTTGGCTGGTTTGTCTGCCAGTTCAATTGTGGAACAGCAGCTGCCACTCAGGCGTAATTCCCACCTA
GAGGAGAGTTTCACATCCACCGAAGAATCTTCCGAAGAAAATGTCAACTTTTTGGGTCAGACAGAGGCACAGTACCACCTGATGCTGCACATCCAGATGCAGCTG
Show »
ATGCAGGGGGGCAACTCCGGGGTCCGCAAGCGCGAAGAGGAGGGCGACGGGGCTGGGGCTGTGGCTGCGCCGCCGGCCATCGACTTTCCCGCCGAGGGCCCGGAC
CCCGAATATGACGAATCTGATGTTCCAGCAGAAATCCAGGTGTTAAAAGAACCCCTACAACAGCCAACCTTCCCTTTTGCAGTTGCAAACCAACTCTTGCTGGTT
TCTTTGCTGGAGCACTTGAGCCACGTGCATGAACCAAACCCACTTCGTTCAAGACAGGTGTTTAAGCTACTTTGCCAGACGTTTATCAAAATGGGGCTGCTGTCT
TCTTTCACTTGTAGTGACGAGTTTAGCTCATTGAGACTACATCACAACAGAGCTATTACTCACTTAATGAGGTCTGCTAAAGAGAGAGTTCGTCAGGATCCTTGT
GAGGATATTTCTCGTATCCAGAAAATCAGATCAAGGGAAGTAGCCTTGGAAGCACAAACTTCACGTTACTTAAATGAATTTGAAGAACTTGCCATCTTAGGAAAA
GGTGGATACGGAAGAGTATACAAGGTCAGGAATAAATTAGATGGTCAGTATTATGCAATAAAAAAAATCCTGATTAAGGGTGCAACTAAAACAGTTTGCATGAAG
GTCCTACGGGAAGTGAAGGTGCTGGCAGGTCTTCAGCACCCCAATATTGTTGGCTATCACACCGCGTGGATAGAACATGTTCATGTGATTCAGCCACGAGACAGA
GCTGCCATTGAGTTGCCATCTCTGGAAGTGCTCTCCGACCAGGAAGAGGACAGAGAGCAATGTGGTGTTAAAAATGATGAAAGTAGCAGCTCATCCATTATCTTT
GCTGAGCCCACCCCAGAAAAAGAAAAACGCTTTGGAGAATCTGACACTGAAAATCAGAATAACAAGTCGGTGAAGTACACCACCAATTTAGTCATAAGAGAATCT
GGTGAACTTGAGTCGACCCTGGAGCTCCAGGAAAATGGCTTGGCTGGTTTGTCTGCCAGTTCAATTGTGGAACAGCAGCTGCCACTCAGGCGTAATTCCCACCTA
GAGGAGAGTTTCACATCCACCGAAGAATCTTCCGAAGAAAATGTCAACTTTTTGGGTCAGACAGAGGCACAGTACCACCTGATGCTGCACATCCAGATGCAGCTG
Show »
>EIF2AK1|27102|protein
MQGGNSGVRKREEEGDGAGAVAAPPAIDFPAEGPDPEYDESDVPAEIQVLKEPLQQPTFPFAVANQLLLVSLLEHLSHVHEPNPLRSRQVFKLLCQTFIKMGLLS
SFTCSDEFSSLRLHHNRAITHLMRSAKERVRQDPCEDISRIQKIRSREVALEAQTSRYLNEFEELAILGKGGYGRVYKVRNKLDGQYYAIKKILIKGATKTVCMK
VLREVKVLAGLQHPNIVGYHTAWIEHVHVIQPRDRAAIELPSLEVLSDQEEDREQCGVKNDESSSSSIIFAEPTPEKEKRFGESDTENQNNKSVKYTTNLVIRES
GELESTLELQENGLAGLSASSIVEQQLPLRRNSHLEESFTSTEESSEENVNFLGQTEAQYHLMLHIQMQLCELSLWDWIVERNKRGREYVDESACPYVMANVATK
IFQELVEGVFYIHNMGIVHRDLKPRNIFLHGPDQQVKIGDFGLACTDILQKNTDWTNRNGKRTPTHTSRVGTCLYASPEQLEGSEYDAKSDMYSLGVVLLELFQP
Show »
MQGGNSGVRKREEEGDGAGAVAAPPAIDFPAEGPDPEYDESDVPAEIQVLKEPLQQPTFPFAVANQLLLVSLLEHLSHVHEPNPLRSRQVFKLLCQTFIKMGLLS
SFTCSDEFSSLRLHHNRAITHLMRSAKERVRQDPCEDISRIQKIRSREVALEAQTSRYLNEFEELAILGKGGYGRVYKVRNKLDGQYYAIKKILIKGATKTVCMK
VLREVKVLAGLQHPNIVGYHTAWIEHVHVIQPRDRAAIELPSLEVLSDQEEDREQCGVKNDESSSSSIIFAEPTPEKEKRFGESDTENQNNKSVKYTTNLVIRES
GELESTLELQENGLAGLSASSIVEQQLPLRRNSHLEESFTSTEESSEENVNFLGQTEAQYHLMLHIQMQLCELSLWDWIVERNKRGREYVDESACPYVMANVATK
IFQELVEGVFYIHNMGIVHRDLKPRNIFLHGPDQQVKIGDFGLACTDILQKNTDWTNRNGKRTPTHTSRVGTCLYASPEQLEGSEYDAKSDMYSLGVVLLELFQP
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 (3) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Yu, 2002 | USA | STS mapping |  | | PDD | 105 | - | 105 | - | - | 668 | 668 |
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
| Goitia V, 2015 | Hispanic | array CGH | - | - | ASD | - | - | - | - | 1 | - | 1 |
Linkage Studies Top