Evidence Details for DMAP1
Basic Information Top
Gene Symbol: | DMAP1 ( DKFZp686L09142,DNMAP1,DNMTAP1,EAF2,FLJ11543,KIAA1425,MEAF2,SWC4 ) |
---|---|
Gene Full Name: | DNA methyltransferase 1 associated protein 1 |
Band: | 1p34.1 |
Quick Links | Entrez ID:55929; OMIM: 605077; Uniprot ID:DMAP1_HUMAN; ENSEMBL ID: ENSG00000178028; HGNC ID: 18291 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>DMAP1|55929|nucleotide
ATGGCTACGGGCGCGGATGTACGGGACATTCTAGAACTCGGGGGTCCAGAAGGGGATGCAGCCTCTGGGACCATCAGCAAGAAGGACATTATCAACCCGGACAAG
AAAAAATCCAAGAAGTCCTCTGAGACACTGACTTTCAAGAGGCCCGAGGGCATGCACCGGGAAGTCTATGCCTTGCTCTACTCTGACAAGAAGGATGCACCCCCA
CTGCTACCCAGTGACACTGGCCAGGGATACCGTACAGTGAAGGCCAAGTTGGGCTCCAAGAAGGTGCGGCCTTGGAAGTGGATGCCATTCACCAACCCGGCCCGC
AAGGACGGAGCAATGTTCTTCCACTGGCGACGTGCAGCGGAGGAGGGCAAGGACTACCCCTTTGCCAGGTTCAATAAGACTGTGCAGGTGCCTGTGTACTCGGAG
CAGGAGTACCAGCTTTATCTCCACGATGATGCTTGGACTAAGGCAGAAACTGACCACCTCTTTGACCTCAGCCGCCGCTTTGACCTGCGTTTTGTTGTTATCCAT
GACCGGTATGACCACCAGCAGTTCAAGAAGCGTTCTGTGGAAGACCTGAAGGAGCGGTACTACCACATCTGTGCTAAGCTTGCCAACGTGCGGGCTGTGCCAGGC
ACAGACCTTAAGATACCAGTATTTGATGCTGGGCACGAACGACGGCGGAAGGAACAGCTTGAGCGTCTCTACAACCGGACCCCAGAGCAGGTGGCAGAGGAGGAG
TACCTGCTACAGGAGCTGCGCAAGATTGAGGCCCGGAAGAAGGAGCGGGAGAAACGCAGCCAGGACCTGCAGAAGCTGATCACAGCGGCAGACACCACTGCAGAG
CAGCGGCGCACGGAACGCAAGGCCCCCAAAAAGAAGCTACCCCAGAAAAAGGAGGCTGAGAAGCCGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTC
AAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGATGAAGCTGCCAAGCTCTGTGGGACAGAAGAAGATCAAGGCCCTGGAACAGATGCTGCTGGAGCTTGGTGTG
GAGCTGAGCCCGACACCTACGGAGGAGCTGGTGCACATGTTCAATGAGCTGCGAAGCGACCTGGTGCTGCTCTACGAGCTCAAGCAGGCCTGTGCCAACTGCGAG
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ATGGCTACGGGCGCGGATGTACGGGACATTCTAGAACTCGGGGGTCCAGAAGGGGATGCAGCCTCTGGGACCATCAGCAAGAAGGACATTATCAACCCGGACAAG
AAAAAATCCAAGAAGTCCTCTGAGACACTGACTTTCAAGAGGCCCGAGGGCATGCACCGGGAAGTCTATGCCTTGCTCTACTCTGACAAGAAGGATGCACCCCCA
CTGCTACCCAGTGACACTGGCCAGGGATACCGTACAGTGAAGGCCAAGTTGGGCTCCAAGAAGGTGCGGCCTTGGAAGTGGATGCCATTCACCAACCCGGCCCGC
AAGGACGGAGCAATGTTCTTCCACTGGCGACGTGCAGCGGAGGAGGGCAAGGACTACCCCTTTGCCAGGTTCAATAAGACTGTGCAGGTGCCTGTGTACTCGGAG
CAGGAGTACCAGCTTTATCTCCACGATGATGCTTGGACTAAGGCAGAAACTGACCACCTCTTTGACCTCAGCCGCCGCTTTGACCTGCGTTTTGTTGTTATCCAT
GACCGGTATGACCACCAGCAGTTCAAGAAGCGTTCTGTGGAAGACCTGAAGGAGCGGTACTACCACATCTGTGCTAAGCTTGCCAACGTGCGGGCTGTGCCAGGC
ACAGACCTTAAGATACCAGTATTTGATGCTGGGCACGAACGACGGCGGAAGGAACAGCTTGAGCGTCTCTACAACCGGACCCCAGAGCAGGTGGCAGAGGAGGAG
TACCTGCTACAGGAGCTGCGCAAGATTGAGGCCCGGAAGAAGGAGCGGGAGAAACGCAGCCAGGACCTGCAGAAGCTGATCACAGCGGCAGACACCACTGCAGAG
CAGCGGCGCACGGAACGCAAGGCCCCCAAAAAGAAGCTACCCCAGAAAAAGGAGGCTGAGAAGCCGGCTGTTCCTGAGACTGCAGGCATCAAGTTTCCAGACTTC
AAGTCTGCAGGTGTCACGCTGCGGAGCCAACGGATGAAGCTGCCAAGCTCTGTGGGACAGAAGAAGATCAAGGCCCTGGAACAGATGCTGCTGGAGCTTGGTGTG
GAGCTGAGCCCGACACCTACGGAGGAGCTGGTGCACATGTTCAATGAGCTGCGAAGCGACCTGGTGCTGCTCTACGAGCTCAAGCAGGCCTGTGCCAACTGCGAG
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>DMAP1|55929|protein
MATGADVRDILELGGPEGDAASGTISKKDIINPDKKKSKKSSETLTFKRPEGMHREVYALLYSDKKDAPPLLPSDTGQGYRTVKAKLGSKKVRPWKWMPFTNPAR
KDGAMFFHWRRAAEEGKDYPFARFNKTVQVPVYSEQEYQLYLHDDAWTKAETDHLFDLSRRFDLRFVVIHDRYDHQQFKKRSVEDLKERYYHICAKLANVRAVPG
TDLKIPVFDAGHERRRKEQLERLYNRTPEQVAEEEYLLQELRKIEARKKEREKRSQDLQKLITAADTTAEQRRTERKAPKKKLPQKKEAEKPAVPETAGIKFPDF
KSAGVTLRSQRMKLPSSVGQKKIKALEQMLLELGVELSPTPTEELVHMFNELRSDLVLLYELKQACANCEYELQMLRHRHEALARAGVLGGPATPASGPGPASAE
PAVTEPGLGPDPKDTIIDVVGAPLTPNSRKRRESASSSSSVKKAKKP
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MATGADVRDILELGGPEGDAASGTISKKDIINPDKKKSKKSSETLTFKRPEGMHREVYALLYSDKKDAPPLLPSDTGQGYRTVKAKLGSKKVRPWKWMPFTNPAR
KDGAMFFHWRRAAEEGKDYPFARFNKTVQVPVYSEQEYQLYLHDDAWTKAETDHLFDLSRRFDLRFVVIHDRYDHQQFKKRSVEDLKERYYHICAKLANVRAVPG
TDLKIPVFDAGHERRRKEQLERLYNRTPEQVAEEEYLLQELRKIEARKKEREKRSQDLQKLITAADTTAEQRRTERKAPKKKLPQKKEAEKPAVPETAGIKFPDF
KSAGVTLRSQRMKLPSSVGQKKIKALEQMLLELGVELSPTPTEELVHMFNELRSDLVLLYELKQACANCEYELQMLRHRHEALARAGVLGGPATPASGPGPASAE
PAVTEPGLGPDPKDTIIDVVGAPLTPNSRKRRESASSSSSVKKAKKP
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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 (0) | 0 (0) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 11 (2) |
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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 | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
1.03012 | Up | 48.2528 | |||
|
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 |
---|---|---|---|---|
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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