Evidence Details for ALDH1A1
Basic Information Top
| Gene Symbol: | ALDH1A1 ( ALDC,ALDH-E1,ALDH1,ALDH11,MGC2318,PUMB1,RALDH1 ) |
|---|---|
| Gene Full Name: | aldehyde dehydrogenase 1 family, member A1 |
| Band: | 9q21.13 |
| Quick Links | Entrez ID:216; OMIM: 100640; Uniprot ID:AL1A1_HUMAN; ENSEMBL ID: ENSG00000165092; HGNC ID: 402 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ALDH1A1|216|nucleotide
ATGTCATCCTCAGGCACGCCAGACTTACCTGTCCTACTCACCGATTTGAAGATTCAATATACTAAGATCTTCATAAACAATGAATGGCATGATTCAGTGAGTGGC
AAGAAATTTCCTGTCTTTAATCCTGCAACTGAGGAGGAGCTCTGCCAGGTAGAAGAAGGAGATAAGGAGGATGTTGACAAGGCAGTGAAGGCCGCAAGACAGGCT
TTTCAGATTGGATCCCCGTGGCGTACTATGGATGCTTCCGAGAGGGGGCGACTATTATACAAGTTGGCTGATTTAATCGAAAGAGATCGTCTGCTGCTGGCGACA
ATGGAGTCAATGAATGGTGGAAAACTCTATTCCAATGCATATCTGAATGATTTAGCAGGCTGCATCAAAACATTGCGCTACTGTGCAGGTTGGGCTGACAAGATC
CAGGGCCGTACAATACCAATTGATGGAAATTTTTTTACATATACAAGACATGAACCTATTGGTGTATGTGGCCAAATCATTCCTTGGAATTTCCCGTTGGTTATG
CTCATTTGGAAGATAGGGCCTGCACTGAGCTGTGGAAACACAGTGGTTGTCAAACCAGCAGAGCAAACTCCTCTCACTGCTCTCCACGTGGCATCTTTAATAAAA
GAGGCAGGGTTTCCTCCTGGAGTAGTGAATATTGTTCCTGGTTATGGGCCTACAGCAGGGGCAGCCATTTCTTCTCACATGGATATAGACAAAGTAGCCTTCACA
GGATCAACAGAGGTTGGCAAGTTGATCAAAGAAGCTGCCGGGAAAAGCAATCTGAAGAGGGTGACCCTGGAGCTTGGAGGAAAGAGCCCTTGCATTGTGTTAGCT
GATGCCGACTTGGACAATGCTGTTGAATTTGCACACCATGGGGTATTCTACCACCAGGGCCAGTGTTGTATAGCCGCATCCAGGATTTTTGTGGAAGAATCAATT
TATGATGAGTTTGTTCGAAGGAGTGTTGAGCGGGCTAAGAAGTATATCCTTGGAAATCCTCTGACCCCAGGAGTCACTCAAGGCCCTCAGATTGACAAGGAACAA
TATGATAAAATACTTGACCTCATTGAGAGTGGGAAGAAAGAAGGGGCCAAACTGGAATGTGGAGGAGGCCCGTGGGGGAATAAAGGCTACTTTGTCCAGCCCACA
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ATGTCATCCTCAGGCACGCCAGACTTACCTGTCCTACTCACCGATTTGAAGATTCAATATACTAAGATCTTCATAAACAATGAATGGCATGATTCAGTGAGTGGC
AAGAAATTTCCTGTCTTTAATCCTGCAACTGAGGAGGAGCTCTGCCAGGTAGAAGAAGGAGATAAGGAGGATGTTGACAAGGCAGTGAAGGCCGCAAGACAGGCT
TTTCAGATTGGATCCCCGTGGCGTACTATGGATGCTTCCGAGAGGGGGCGACTATTATACAAGTTGGCTGATTTAATCGAAAGAGATCGTCTGCTGCTGGCGACA
ATGGAGTCAATGAATGGTGGAAAACTCTATTCCAATGCATATCTGAATGATTTAGCAGGCTGCATCAAAACATTGCGCTACTGTGCAGGTTGGGCTGACAAGATC
CAGGGCCGTACAATACCAATTGATGGAAATTTTTTTACATATACAAGACATGAACCTATTGGTGTATGTGGCCAAATCATTCCTTGGAATTTCCCGTTGGTTATG
CTCATTTGGAAGATAGGGCCTGCACTGAGCTGTGGAAACACAGTGGTTGTCAAACCAGCAGAGCAAACTCCTCTCACTGCTCTCCACGTGGCATCTTTAATAAAA
GAGGCAGGGTTTCCTCCTGGAGTAGTGAATATTGTTCCTGGTTATGGGCCTACAGCAGGGGCAGCCATTTCTTCTCACATGGATATAGACAAAGTAGCCTTCACA
GGATCAACAGAGGTTGGCAAGTTGATCAAAGAAGCTGCCGGGAAAAGCAATCTGAAGAGGGTGACCCTGGAGCTTGGAGGAAAGAGCCCTTGCATTGTGTTAGCT
GATGCCGACTTGGACAATGCTGTTGAATTTGCACACCATGGGGTATTCTACCACCAGGGCCAGTGTTGTATAGCCGCATCCAGGATTTTTGTGGAAGAATCAATT
TATGATGAGTTTGTTCGAAGGAGTGTTGAGCGGGCTAAGAAGTATATCCTTGGAAATCCTCTGACCCCAGGAGTCACTCAAGGCCCTCAGATTGACAAGGAACAA
TATGATAAAATACTTGACCTCATTGAGAGTGGGAAGAAAGAAGGGGCCAAACTGGAATGTGGAGGAGGCCCGTGGGGGAATAAAGGCTACTTTGTCCAGCCCACA
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>ALDH1A1|216|protein
MSSSGTPDLPVLLTDLKIQYTKIFINNEWHDSVSGKKFPVFNPATEEELCQVEEGDKEDVDKAVKAARQAFQIGSPWRTMDASERGRLLYKLADLIERDRLLLAT
MESMNGGKLYSNAYLNDLAGCIKTLRYCAGWADKIQGRTIPIDGNFFTYTRHEPIGVCGQIIPWNFPLVMLIWKIGPALSCGNTVVVKPAEQTPLTALHVASLIK
EAGFPPGVVNIVPGYGPTAGAAISSHMDIDKVAFTGSTEVGKLIKEAAGKSNLKRVTLELGGKSPCIVLADADLDNAVEFAHHGVFYHQGQCCIAASRIFVEESI
YDEFVRRSVERAKKYILGNPLTPGVTQGPQIDKEQYDKILDLIESGKKEGAKLECGGGPWGNKGYFVQPTVFSNVTDEMRIAKEEIFGPVQQIMKFKSLDDVIKR
ANNTFYGLSAGVFTKDIDKAITISSALQAGTVWVNCYGVVSAQCPFGGFKMSGNGRELGEYGFHEYTEVKTVTVKISQKNS
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MSSSGTPDLPVLLTDLKIQYTKIFINNEWHDSVSGKKFPVFNPATEEELCQVEEGDKEDVDKAVKAARQAFQIGSPWRTMDASERGRLLYKLADLIERDRLLLAT
MESMNGGKLYSNAYLNDLAGCIKTLRYCAGWADKIQGRTIPIDGNFFTYTRHEPIGVCGQIIPWNFPLVMLIWKIGPALSCGNTVVVKPAEQTPLTALHVASLIK
EAGFPPGVVNIVPGYGPTAGAAISSHMDIDKVAFTGSTEVGKLIKEAAGKSNLKRVTLELGGKSPCIVLADADLDNAVEFAHHGVFYHQGQCCIAASRIFVEESI
YDEFVRRSVERAKKYILGNPLTPGVTQGPQIDKEQYDKILDLIESGKKEGAKLECGGGPWGNKGYFVQPTVFSNVTDEMRIAKEEIFGPVQQIMKFKSLDDVIKR
ANNTFYGLSAGVFTKDIDKAITISSALQAGTVWVNCYGVVSAQCPFGGFKMSGNGRELGEYGFHEYTEVKTVTVKISQKNS
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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 | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (2) |
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) |
||||||
| MIXED/OTHERS | |||||||||||
| Connolly S, 2017_2 | - | Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M | 2591 | - (-) |  | | 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 | ||||||
| Bremer, 2011 | - | aCGH |  | | ASD | - | - | - | - | 223 | - | 223 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS 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.