Evidence Details for GCOM1
Basic Information Top
| Gene Symbol: | GCOM1 ( FLJ30973,GRINL1A,Gcom2,Gup,Gup1,Gup2,MGC126694,MGC138353,MYOZAP ) |
|---|---|
| Gene Full Name: | GRINL1A complex locus |
| Band: | 15q21.3 |
| Quick Links | Entrez ID:145781; OMIM: NA; Uniprot ID:GCOM1_HUMAN; ENSEMBL ID: ENSG00000137878; HGNC ID: 26424 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GCOM1|145781|nucleotide
ATGCTGCGCTCCACGTCCACGGTCACCCTGCTCTCGGGCGGCGCCGCCAGGACGCCCGGGGCGCCCAGCAGGAGGGCAAATGTTTGCAGACTACGGCTGACCGTA
CCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGCTTCTTGACCTGAGCAATGGAGAACCTACCAGGAAACTTCCTCAGGGT
GTTGTTTATGGTGTGGTGCGAAGATCAGATCAAAATCAGCAGAAAGAAATGGTGGTGTATGGGTGGTCCACCAGTCAGCTGAAAGAAGAGATGAACTACATCAAA
GATGTGAGAGCCACTTTGGAAAAGGTGAGAAAGCGAATGTATGGAGACTATGATGAGATGAGACAGAAGATTCGACAGCTCACCCAGGAACTATCAGTTTCCCAT
GCTCAGCAGGAGTATCTGGAGAATCACATCCAAACCCAGTCGTCTGCCCTGGATCGTTTTAATGCCATGAACTCAGCCTTGGCATCAGATTCCATTGGCCTGCAA
AAAACCCTCGTGGATGTGACTTTGGAAAACAGCAACATTAAGGATCAAATCAGAAATCTGCAGCAGACGTATGAAGCATCCATGGACAAGCTGAGGGAAAAGCAG
AGGCAGTTGGAGGTAGCGCAAGTTGAAAACCAGCTGCTAAAAATGAAGGTGGAATCGTCCCAAGAAGCCAATGCTGAGGTGATGCGAGAGATGACCAAGAAGCTG
TACAGCCAGTATGAGGAGAAGCTGCAGGAAGAACAGAGGAAGCACAGTGCTGAGAAGGAGGCTCTTTTGGAAGAAACCAATAGTTTTCTGAAAGCGATTGAAGAA
GCCAATAAAAAGATGCAAGCAGCAGAGATCAGCCTAGAGGAGAAAGACCAGAGGATCGGGGAGCTGGACAGGCTGATTGAGCGCATGGAAAAGGAACGTCATCAA
CTGCAACTTCAACTCCTAGAACATGAAACAGAAATGTCTGGGGAGTTAACTGATTCTGACAAGGAAAGGTATCAGCAGTTGGAGGAGGCATCAGCCAGCCTCCGT
GAGCGGATCAGACACCTAGATGACATGGTGCATTGCCAGCAGAAGAAAGTCAAGCAGATGGTCGAGGAGATTGAATCATTAAAGAAAAAGTTGCAACAGAAACAG
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ATGCTGCGCTCCACGTCCACGGTCACCCTGCTCTCGGGCGGCGCCGCCAGGACGCCCGGGGCGCCCAGCAGGAGGGCAAATGTTTGCAGACTACGGCTGACCGTA
CCTCCTGAGAGTCCAGTTCCTGAGCAATGTGAAAAGAAGATTGAGAGAAAAGAGCAGCTTCTTGACCTGAGCAATGGAGAACCTACCAGGAAACTTCCTCAGGGT
GTTGTTTATGGTGTGGTGCGAAGATCAGATCAAAATCAGCAGAAAGAAATGGTGGTGTATGGGTGGTCCACCAGTCAGCTGAAAGAAGAGATGAACTACATCAAA
GATGTGAGAGCCACTTTGGAAAAGGTGAGAAAGCGAATGTATGGAGACTATGATGAGATGAGACAGAAGATTCGACAGCTCACCCAGGAACTATCAGTTTCCCAT
GCTCAGCAGGAGTATCTGGAGAATCACATCCAAACCCAGTCGTCTGCCCTGGATCGTTTTAATGCCATGAACTCAGCCTTGGCATCAGATTCCATTGGCCTGCAA
AAAACCCTCGTGGATGTGACTTTGGAAAACAGCAACATTAAGGATCAAATCAGAAATCTGCAGCAGACGTATGAAGCATCCATGGACAAGCTGAGGGAAAAGCAG
AGGCAGTTGGAGGTAGCGCAAGTTGAAAACCAGCTGCTAAAAATGAAGGTGGAATCGTCCCAAGAAGCCAATGCTGAGGTGATGCGAGAGATGACCAAGAAGCTG
TACAGCCAGTATGAGGAGAAGCTGCAGGAAGAACAGAGGAAGCACAGTGCTGAGAAGGAGGCTCTTTTGGAAGAAACCAATAGTTTTCTGAAAGCGATTGAAGAA
GCCAATAAAAAGATGCAAGCAGCAGAGATCAGCCTAGAGGAGAAAGACCAGAGGATCGGGGAGCTGGACAGGCTGATTGAGCGCATGGAAAAGGAACGTCATCAA
CTGCAACTTCAACTCCTAGAACATGAAACAGAAATGTCTGGGGAGTTAACTGATTCTGACAAGGAAAGGTATCAGCAGTTGGAGGAGGCATCAGCCAGCCTCCGT
GAGCGGATCAGACACCTAGATGACATGGTGCATTGCCAGCAGAAGAAAGTCAAGCAGATGGTCGAGGAGATTGAATCATTAAAGAAAAAGTTGCAACAGAAACAG
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>GCOM1|145781|protein
MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIK
DVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQ
RQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQ
LQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTE
VETREIGVGCDLLPRLPFRQNDSSSHCQKSGSPISSEERRRRDKQHLDDITAARLLPLHHMPTQLLSIEESLALQKQQKQNYEEMQAKLAAQKLAERLNIKMRSY
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MLRSTSTVTLLSGGAARTPGAPSRRANVCRLRLTVPPESPVPEQCEKKIERKEQLLDLSNGEPTRKLPQGVVYGVVRRSDQNQQKEMVVYGWSTSQLKEEMNYIK
DVRATLEKVRKRMYGDYDEMRQKIRQLTQELSVSHAQQEYLENHIQTQSSALDRFNAMNSALASDSIGLQKTLVDVTLENSNIKDQIRNLQQTYEASMDKLREKQ
RQLEVAQVENQLLKMKVESSQEANAEVMREMTKKLYSQYEEKLQEEQRKHSAEKEALLEETNSFLKAIEEANKKMQAAEISLEEKDQRIGELDRLIERMEKERHQ
LQLQLLEHETEMSGELTDSDKERYQQLEEASASLRERIRHLDDMVHCQQKKVKQMVEEIESLKKKLQQKQLLILQLLEKISFLEGENNELQSRLDYLTETQAKTE
VETREIGVGCDLLPRLPFRQNDSSSHCQKSGSPISSEERRRRDKQHLDDITAARLLPLHHMPTQLLSIEESLALQKQQKQNYEEMQAKLAAQKLAERLNIKMRSY
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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 (1) | 1 (2) | 1 (2) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 14 (6) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
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.