Evidence Details for GRAMD1C
Basic Information Top
| Gene Symbol: | GRAMD1C ( DKFZp434C0328,DKFZp686K06117,FLJ35862,FLJ40464 ) |
|---|---|
| Gene Full Name: | GRAM domain containing 1C |
| Band: | 3q13.31 |
| Quick Links | Entrez ID:54762; OMIM: NA; Uniprot ID:GRM1C_HUMAN; ENSEMBL ID: ENSG00000178075; HGNC ID: 25252 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>GRAMD1C|54762|nucleotide
ATGGAAAACTTGTCACTGTCGATTGAGGATGTGCAGCCAAGAAGTCCAGGAAGAAGCAGCTTGGATGACTCTGGGGAGAGAGATGAAAAATTATCCAAGTCAATC
AGTTTTACCAGTGAATCAATTAGTCGGGTTTCAGAAACAGAGTCATTCGATGGAAATTCATCAAAAGGAGGATTAGGCAAAGAGGAGTCCCAAAATGAGAAACAG
ACCAAAAAGAGTCTCTTACCAACTTTGGAAAAGAAGTTAACTAGAGTGCCATCAAAGTCACTGGACTTGAATAAAAATGAATATCTTTCTCTGGACAAAAGCAGC
ACTTCAGATTCTGTTGATGAAGAAAATGTTCCTGAGAAAGATCTTCATGGAAGACTTTTTATCAACCGTATTTTTCATATCAGTGCTGACAGAATGTTTGAATTG
CTCTTTACCAGTTCACGCTTTATGCAGAAATTTGCCAGTTCTAGAAATATAATAGATGTAGTATCTACCCCTTGGACTGCAGAACTTGGAGGTGATCAGCTGAGA
ACGATGACCTACACTATAGTCCTTAATAGTCCACTTACTGGAAAATGCACTGCTGCCACTGAAAAGCAGACACTGTATAAAGAAAGTCGGGAAGCACGATTTTAT
TTGGTAGATTCAGAAGTACTGACACATGATGTCCCCTACCATGATTACTTCTATACCGTGAACAGATACTGTATCATCCGATCTTCAAAACAGAAATGCAGGCTA
AGAGTTTCCACAGATTTGAAATACAGAAAACAGCCATGGGGCCTTGTCAAATCTTTAATTGAAAAGAATTCCTGGAGTTCTTTGGAGGACTATTTCAAACAGCTT
GAATCAGATTTGTTAATTGAAGAATCTGTATTAAATCAGGCCATTGAAGACCCTGGAAAACTTACTGGCCTACGAAGGAGAAGGCGAACCTTCAACCGAACAGCA
GAAACAGTTCCTAAACTTTCCTCTCAGCATTCCTCTGGAGATGTGGGCTTAGGTGCCAAAGGGGATATTACAGGAAAGAAAAAGGAAATGGAAAACTATAACGTC
ACTCTTATTGTGGTAATGAGTATTTTTGTGTTGTTATTAGTTTTGTTGAATGTGACACTGTTTCTGAAGCTGTCAAAGATAGAACATGCTGCTCAGTCCTTTTAC
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ATGGAAAACTTGTCACTGTCGATTGAGGATGTGCAGCCAAGAAGTCCAGGAAGAAGCAGCTTGGATGACTCTGGGGAGAGAGATGAAAAATTATCCAAGTCAATC
AGTTTTACCAGTGAATCAATTAGTCGGGTTTCAGAAACAGAGTCATTCGATGGAAATTCATCAAAAGGAGGATTAGGCAAAGAGGAGTCCCAAAATGAGAAACAG
ACCAAAAAGAGTCTCTTACCAACTTTGGAAAAGAAGTTAACTAGAGTGCCATCAAAGTCACTGGACTTGAATAAAAATGAATATCTTTCTCTGGACAAAAGCAGC
ACTTCAGATTCTGTTGATGAAGAAAATGTTCCTGAGAAAGATCTTCATGGAAGACTTTTTATCAACCGTATTTTTCATATCAGTGCTGACAGAATGTTTGAATTG
CTCTTTACCAGTTCACGCTTTATGCAGAAATTTGCCAGTTCTAGAAATATAATAGATGTAGTATCTACCCCTTGGACTGCAGAACTTGGAGGTGATCAGCTGAGA
ACGATGACCTACACTATAGTCCTTAATAGTCCACTTACTGGAAAATGCACTGCTGCCACTGAAAAGCAGACACTGTATAAAGAAAGTCGGGAAGCACGATTTTAT
TTGGTAGATTCAGAAGTACTGACACATGATGTCCCCTACCATGATTACTTCTATACCGTGAACAGATACTGTATCATCCGATCTTCAAAACAGAAATGCAGGCTA
AGAGTTTCCACAGATTTGAAATACAGAAAACAGCCATGGGGCCTTGTCAAATCTTTAATTGAAAAGAATTCCTGGAGTTCTTTGGAGGACTATTTCAAACAGCTT
GAATCAGATTTGTTAATTGAAGAATCTGTATTAAATCAGGCCATTGAAGACCCTGGAAAACTTACTGGCCTACGAAGGAGAAGGCGAACCTTCAACCGAACAGCA
GAAACAGTTCCTAAACTTTCCTCTCAGCATTCCTCTGGAGATGTGGGCTTAGGTGCCAAAGGGGATATTACAGGAAAGAAAAAGGAAATGGAAAACTATAACGTC
ACTCTTATTGTGGTAATGAGTATTTTTGTGTTGTTATTAGTTTTGTTGAATGTGACACTGTTTCTGAAGCTGTCAAAGATAGAACATGCTGCTCAGTCCTTTTAC
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>GRAMD1C|54762|protein
MENLSLSIEDVQPRSPGRSSLDDSGERDEKLSKSISFTSESISRVSETESFDGNSSKGGLGKEESQNEKQTKKSLLPTLEKKLTRVPSKSLDLNKNEYLSLDKSS
TSDSVDEENVPEKDLHGRLFINRIFHISADRMFELLFTSSRFMQKFASSRNIIDVVSTPWTAELGGDQLRTMTYTIVLNSPLTGKCTAATEKQTLYKESREARFY
LVDSEVLTHDVPYHDYFYTVNRYCIIRSSKQKCRLRVSTDLKYRKQPWGLVKSLIEKNSWSSLEDYFKQLESDLLIEESVLNQAIEDPGKLTGLRRRRRTFNRTA
ETVPKLSSQHSSGDVGLGAKGDITGKKKEMENYNVTLIVVMSIFVLLLVLLNVTLFLKLSKIEHAAQSFYRLRLQEEKSLNLASDMVSRAETIQKNKDQAHRLKG
VLRDSIVMLEQLKSSLIMLQKTFDLLNKNKTGMAVES
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MENLSLSIEDVQPRSPGRSSLDDSGERDEKLSKSISFTSESISRVSETESFDGNSSKGGLGKEESQNEKQTKKSLLPTLEKKLTRVPSKSLDLNKNEYLSLDKSS
TSDSVDEENVPEKDLHGRLFINRIFHISADRMFELLFTSSRFMQKFASSRNIIDVVSTPWTAELGGDQLRTMTYTIVLNSPLTGKCTAATEKQTLYKESREARFY
LVDSEVLTHDVPYHDYFYTVNRYCIIRSSKQKCRLRVSTDLKYRKQPWGLVKSLIEKNSWSSLEDYFKQLESDLLIEESVLNQAIEDPGKLTGLRRRRRTFNRTA
ETVPKLSSQHSSGDVGLGAKGDITGKKKEMENYNVTLIVVMSIFVLLLVLLNVTLFLKLSKIEHAAQSFYRLRLQEEKSLNLASDMVSRAETIQKNKDQAHRLKG
VLRDSIVMLEQLKSSLIMLQKTFDLLNKNKTGMAVES
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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 (3) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 4 (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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
| Fan Y, 2016 | China | CMA | - | - | autism | - | - | - | - | 3 | - | 3 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2008 | - | SNP-based genomic screen | | | ASD | 1 | - | 1 | - | 7 | 22 | 29 |
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 |
|---|---|---|---|---|
| Yuen RK, 2016 | 200 | - | 301 | Genome-wide characteristics of de novo mutations in autism. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Toma C, 2014 | - | Illumina HiSeq 2000 | - | - | ASD | 10 | - | - | 21 | - |
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.