Evidence Detail for GAMT
Basic Information
Top
| Gene Symbol: | GAMT ( PIG2,TP53I2 ) |
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| Gene Full Name: | guanidinoacetate N-methyltransferase |
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| Band: | 19p13.3 |
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| Quick Links | Entrez ID:2593; OMIM: 601240; Uniprot ID:GAMT_HUMAN; ENSEMBL ID: ENSG00000130005 |
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>GAMT|2593|nucleotide
ATGAGCGCCCCCAGCGCGACCCCCATCTTCGCGCCCGGCGAGAACTGCAGCCCCGCGTGGGGGGCGGCGCCCGCGGCCTACGACGCAGCGGACACGCACCTGCGC
ATCCTGGGCAAGCCGGTGATGGAGCGCTGGGAGACCCCCTATATGCACGCGCTGGCCGCCGCCGCCTCCTCCAAAGGGGGCCGGGTCCTGGAGGTGGGCTTTGGC
ATGGCCATCGCAGCGTCAAAGGTGCAGGAGGCGCCCATTGATGAGCATTGGATCATCGAGTGCAATGACGGCGTCTTCCAGCGGCTCCGGGACTGGGCCCCACGG
CAGACACACAAGGTCATCCCCTTGAAAGGCCTGTGGGAGGATGTGGCACCCACCCTGCCTGACGGTCACTTTGATGGGATCCTGTACGACACGTACCCACTCTCG
GAGGAGACCTGGCACACACACCAGTTCAACTTCATCAAGAACCACGCCTTTCGCCTGCTGAAGCCGGGGGGCGTCCTCACCTACTGCAACCTCACCTCCTGGGGG
GAGCTGATGAAGTCCAAGTACTCAGACATCACCATCATGTTTGAGGAGACGCAGGTGCCCGCGCTGCTGGAGGCCGGCTTCCGGAGGGAGAACATCCGTACGGAG
GTGATGGCGCTGGTCCCACCGGCCGACTGCCGCTACTACGCCTTCCCACAGATGATCACGCCCCTGGTGACCAAAGGCTGA
« Hide>GAMT|2593|protein
MSAPSATPIFAPGENCSPAWGAAPAAYDAADTHLRILGKPVMERWETPYMHALAAAASSKGGRVLEVGFGMAIAASKVQEAPIDEHWIIECNDGVFQRLRDWAPR
QTHKVIPLKGLWEDVAPTLPDGHFDGILYDTYPLSEETWHTHQFNFIKNHAFRLLKPGGVLTYCNLTSWGELMKSKYSDITIMFEETQVPALLEAGFRRENIRTE
VMALVPPADCRYYAFPQMITPLVTKG
« Hide Evidence Statistic
TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Syndromic Autism Gene
TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked. | Inheritance | AR |
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| OMIM | GAMT deficiency (612736) |
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| Description | Guanidine acetate methyltransferase (GAMT) deficiency (brain creatine deficiency, synthesis defect) |
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| Reference(s) | 19892372; 20301745; 17336114; |
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| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
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Low Scale Association Studies (by Ethnic Group)
Top Family Based Association Studies: 0
| Reference |
Population |
#SNPs/ #VNTRs |
#Families |
Affecteds |
Result |
#Subjects
(% Women) |
ADI-R |
ADOS |
Diagnosis |
Age
(range) |
IQ
(range) |
| No Evidence. |
Case Control Based Association Studies: 0
| Reference |
Population |
#SNPs/ #VNTRs |
ASD Cases |
Normal Controls |
Result |
#Subjects
(% Women) |
ADI-R |
ADOS |
Diagnosis |
Age
(range) |
IQ |
#Subjects
(% Women) |
Age
(range) |
| No Evidence. |
Genome-Wide Association Studies(By Ethnic Group)
Top Family Based Association Studies: 0
| Reference |
Stage |
#SNPs/ #VNTRs |
#Families |
Affecteds |
Result |
#Subjects
(% Women) |
ADI-R |
ADOS |
Diagnosis |
Age
(range) |
IQ
(range) |
| No Evidence. |
Case Control Based Association Studies: 0
| Reference |
Stage |
#SNPs/ #VNTRs |
ASD Cases |
Normal Controls |
Result |
#Subjects
(% Women) |
ADI-R |
ADOS |
Diagnosis |
Age
(range) |
IQ |
#Subjects
(% Women) |
Age
(range) |
| No Evidence. |
Other Low Scale Gene Studies
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| Reference |
Orangnism |
Tissue |
ADI-R |
ADOS |
Diagnosis |
Evidence Level |
Result |
| No Evidence. |
Large Scale Expression Studies
Top Microarray Studies: 0
| Reference |
Population |
Tissue |
#Subjects
(% Women) |
ADI-R |
ADOS |
Endo- pheno |
Diagnosis |
Normal Controls
(% Women) |
Fold Change |
Up/ Down |
P/Q value |
| No Evidence. |
Proteomics Studies:0
| Reference |
Population |
Tissue |
Platform |
#Subjects
(% Women) |
ADI-R |
ADOS |
Diagnosis |
Normal Controls(% Women) |
| No Evidence. |
CNV Studies
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| CNV Name |
Chr |
Band |
Gain/Loss |
Number of CNVs |
Evidence Type |
Reference |
| Case |
Control |
| AutCNV0000345 |
19 |
19p13 |
loss |
3 |
- |
CNVs Not Present In Control; Denovo CNVs; |
Bucan, 2009 |
Linkage 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.
