Evidence Details for GLDC
Basic Information Top
Gene Symbol: | GLDC ( GCE,GCSP,HYGN1,MGC138198,MGC138200 ) |
---|---|
Gene Full Name: | glycine dehydrogenase (decarboxylating) |
Band: | 9p24.1 |
Quick Links | Entrez ID:2731; OMIM: 238300; Uniprot ID:GCSP_HUMAN; ENSEMBL ID: ENSG00000178445; HGNC ID: 4313 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>GLDC|2731|nucleotide
ATGCAGTCCTGTGCCAGGGCGTGGGGGCTGCGCCTGGGCCGCGGGGTCGGGGGCGGCCGCCGCCTGGCTGGGGGATCGGGGCCGTGCTGGGCGCCGCGGAGCCGG
GACAGCAGCAGTGGCGGCGGGGACAGCGCCGCGGCTGGGGCCTCGCGCCTCCTGGAGCGCCTTCTGCCCAGACACGACGACTTCGCTCGGAGGCACATCGGCCCT
GGGGACAAAGACCAGAGAGAGATGCTGCAGACCTTGGGGCTGGCGAGCATTGATGAATTGATCGAGAAGACGGTCCCTGCCAACATCCGTTTGAAAAGACCCTTG
AAAATGGAAGACCCTGTTTGTGAAAATGAAATCCTTGCAACTCTGCATGCCATTTCAAGCAAAAACCAGATCTGGAGATCGTATATTGGCATGGGCTATTATAAC
TGCTCAGTGCCACAGACGATTTTGCGGAACTTACTGGAGAACTCAGGATGGATCACCCAGTATACTCCATACCAGCCTGAGGTGTCTCAGGGGAGGCTGGAGAGT
TTACTCAACTACCAGACCATGGTGTGTGACATCACAGGCCTGGACATGGCCAATGCATCCCTGCTGGATGAGGGGACTGCAGCCGCAGAGGCACTGCAGCTGTGC
TACAGACACAACAAGAGGAGGAAATTTCTCGTTGATCCCCGTTGCCACCCACAGACAATAGCTGTTGTCCAGACTCGAGCCAAATATACTGGAGTCCTCACTGAG
CTGAAGTTACCCTGTGAAATGGACTTCAGTGGAAAAGATGTCAGTGGAGTGTTGTTCCAGTACCCAGACACGGAGGGGAAGGTGGAAGACTTTACGGAACTCGTG
GAGAGAGCTCATCAGAGTGGGAGCCTGGCCTGCTGTGCTACTGACCTTTTAGCTTTGTGCATCTTGAGGCCACCTGGAGAATTTGGGGTAGACATCGCCCTGGGC
AGCTCCCAGAGATTTGGAGTGCCACTGGGCTATGGGGGACCCCATGCAGCATTTTTTGCTGTCCGAGAAAGCTTGGTGAGAATGATGCCTGGAAGAATGGTGGGG
GTAACAAGAGATGCCACTGGGAAAGAAGTGTATCGTCTTGCTCTTCAAACCAGGGAGCAACACATTCGGAGAGACAAGGCTACCAGCAACATCTGTACAGCTCAG
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ATGCAGTCCTGTGCCAGGGCGTGGGGGCTGCGCCTGGGCCGCGGGGTCGGGGGCGGCCGCCGCCTGGCTGGGGGATCGGGGCCGTGCTGGGCGCCGCGGAGCCGG
GACAGCAGCAGTGGCGGCGGGGACAGCGCCGCGGCTGGGGCCTCGCGCCTCCTGGAGCGCCTTCTGCCCAGACACGACGACTTCGCTCGGAGGCACATCGGCCCT
GGGGACAAAGACCAGAGAGAGATGCTGCAGACCTTGGGGCTGGCGAGCATTGATGAATTGATCGAGAAGACGGTCCCTGCCAACATCCGTTTGAAAAGACCCTTG
AAAATGGAAGACCCTGTTTGTGAAAATGAAATCCTTGCAACTCTGCATGCCATTTCAAGCAAAAACCAGATCTGGAGATCGTATATTGGCATGGGCTATTATAAC
TGCTCAGTGCCACAGACGATTTTGCGGAACTTACTGGAGAACTCAGGATGGATCACCCAGTATACTCCATACCAGCCTGAGGTGTCTCAGGGGAGGCTGGAGAGT
TTACTCAACTACCAGACCATGGTGTGTGACATCACAGGCCTGGACATGGCCAATGCATCCCTGCTGGATGAGGGGACTGCAGCCGCAGAGGCACTGCAGCTGTGC
TACAGACACAACAAGAGGAGGAAATTTCTCGTTGATCCCCGTTGCCACCCACAGACAATAGCTGTTGTCCAGACTCGAGCCAAATATACTGGAGTCCTCACTGAG
CTGAAGTTACCCTGTGAAATGGACTTCAGTGGAAAAGATGTCAGTGGAGTGTTGTTCCAGTACCCAGACACGGAGGGGAAGGTGGAAGACTTTACGGAACTCGTG
GAGAGAGCTCATCAGAGTGGGAGCCTGGCCTGCTGTGCTACTGACCTTTTAGCTTTGTGCATCTTGAGGCCACCTGGAGAATTTGGGGTAGACATCGCCCTGGGC
AGCTCCCAGAGATTTGGAGTGCCACTGGGCTATGGGGGACCCCATGCAGCATTTTTTGCTGTCCGAGAAAGCTTGGTGAGAATGATGCCTGGAAGAATGGTGGGG
GTAACAAGAGATGCCACTGGGAAAGAAGTGTATCGTCTTGCTCTTCAAACCAGGGAGCAACACATTCGGAGAGACAAGGCTACCAGCAACATCTGTACAGCTCAG
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>GLDC|2731|protein
MQSCARAWGLRLGRGVGGGRRLAGGSGPCWAPRSRDSSSGGGDSAAAGASRLLERLLPRHDDFARRHIGPGDKDQREMLQTLGLASIDELIEKTVPANIRLKRPL
KMEDPVCENEILATLHAISSKNQIWRSYIGMGYYNCSVPQTILRNLLENSGWITQYTPYQPEVSQGRLESLLNYQTMVCDITGLDMANASLLDEGTAAAEALQLC
YRHNKRRKFLVDPRCHPQTIAVVQTRAKYTGVLTELKLPCEMDFSGKDVSGVLFQYPDTEGKVEDFTELVERAHQSGSLACCATDLLALCILRPPGEFGVDIALG
SSQRFGVPLGYGGPHAAFFAVRESLVRMMPGRMVGVTRDATGKEVYRLALQTREQHIRRDKATSNICTAQALLANMAAMFAIYHGSHGLEHIARRVHNATLILSE
GLKRAGHQLQHDLFFDTLKIQCGCSVKEVLGRAAQRQINFRLFEDGTLGISLDETVNEKDLDDLLWIFGCESSAELVAESMGEECRGIPGSVFKRTSPFLTHQVF
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MQSCARAWGLRLGRGVGGGRRLAGGSGPCWAPRSRDSSSGGGDSAAAGASRLLERLLPRHDDFARRHIGPGDKDQREMLQTLGLASIDELIEKTVPANIRLKRPL
KMEDPVCENEILATLHAISSKNQIWRSYIGMGYYNCSVPQTILRNLLENSGWITQYTPYQPEVSQGRLESLLNYQTMVCDITGLDMANASLLDEGTAAAEALQLC
YRHNKRRKFLVDPRCHPQTIAVVQTRAKYTGVLTELKLPCEMDFSGKDVSGVLFQYPDTEGKVEDFTELVERAHQSGSLACCATDLLALCILRPPGEFGVDIALG
SSQRFGVPLGYGGPHAAFFAVRESLVRMMPGRMVGVTRDATGKEVYRLALQTREQHIRRDKATSNICTAQALLANMAAMFAIYHGSHGLEHIARRVHNATLILSE
GLKRAGHQLQHDLFFDTLKIQCGCSVKEVLGRAAQRQINFRLFEDGTLGISLDETVNEKDLDDLLWIFGCESSAELVAESMGEECRGIPGSVFKRTSPFLTHQVF
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Evidence summary Top
Click 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) | 0 (3) | 0 (0) | 0 (0) | 1 (1) | 0 (2) | 0 (0) | 0 (0) | 0 (0) | 1 (6) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
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 | ||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Nord, 2011 | US | aCGH | - | - | ASD | - | - | - | - | 41 | 367 | 408 |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | - | AD | 22 (13.64%) |
-1.42 | Down | 0.015 | |||
|
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Neale BM, 2012 | 175 | 175 | 173 | Patterns and rates of exonic de novo mutations in autism spectrum disorders. |
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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