Evidence Details for NTHL1
Basic Information Top
| Gene Symbol: | NTHL1 ( NTH1,OCTS3 ) |
|---|---|
| Gene Full Name: | nth endonuclease III-like 1 (E. coli) |
| Band: | 16p13.3 |
| Quick Links | Entrez ID:4913; OMIM: 602656; Uniprot ID:NTHL1_HUMAN; ENSEMBL ID: ENSG00000065057; HGNC ID: 8028 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>NTHL1|4913|nucleotide
ATGTGTAGTCCGCAGGAGTCCGGCATGACCGCCTTGAGCGCGAGGATGCTGACCCGGAGCCGGAGCCTGGGACCCGGGGCTGGGCCGCGGGGGTGTAGGGAGGAG
CCCGGGCCTCTCCGGAGAAGAGAGGCTGCAGCAGAAGCGAGGAAAAGCCACAGCCCCGTGAAGCGTCCGCGGAAAGCACAGAGACTGCGTGTGGCCTATGAGGGC
TCGGACAGTGAGAAAGGTGAGGGGGCTGAGCCCCTCAAGGTGCCAGTCTGGGAGCCCCAGGACTGGCAGCAACAGCTGGTCAACATCCGTGCCATGAGGAACAAA
AAGGATGCACCTGTGGACCATCTGGGGACTGAGCACTGCTATGACTCCAGTGCCCCCCCAAAGGTACGCAGGTACCAGGTGCTGCTGTCACTGATGCTCTCCAGC
CAAACCAAAGACCAGGTGACGGCGGGCGCCATGCAGCGACTGCGGGCGCGGGGCCTGACGGTGGACAGCATCCTGCAGACAGATGATGCCACGCTGGGCAAGCTC
ATCTACCCCGTCGGTTTCTGGAGGAGCAAGGTGAAATACATCAAGCAGACCAGCGCCATCCTGCAGCAGCACTACGGTGGGGACATCCCAGCCTCTGTGGCCGAG
CTGGTGGCGCTGCCGGGTGTTGGGCCCAAGATGGCACACCTGGCTATGGCTGTGGCCTGGGGCACTGTGTCAGGCATTGCAGTGGACACGCATGTGCACAGAATC
GCCAACAGGCTGAGGTGGACCAAGAAGGCAACCAAGTCCCCAGAGGAGACCCGCGCCGCCCTGGAGGAGTGGCTGCCTAGGGAGCTGTGGCACGAGATCAATGGA
CTCTTGGTGGGCTTCGGCCAGCAGACCTGTCTGCCTGTGCACCCTCGCTGCCACGCCTGCCTCAACCAAGCCCTCTGCCCGGCCGCCCAGGGTCTCTGA
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ATGTGTAGTCCGCAGGAGTCCGGCATGACCGCCTTGAGCGCGAGGATGCTGACCCGGAGCCGGAGCCTGGGACCCGGGGCTGGGCCGCGGGGGTGTAGGGAGGAG
CCCGGGCCTCTCCGGAGAAGAGAGGCTGCAGCAGAAGCGAGGAAAAGCCACAGCCCCGTGAAGCGTCCGCGGAAAGCACAGAGACTGCGTGTGGCCTATGAGGGC
TCGGACAGTGAGAAAGGTGAGGGGGCTGAGCCCCTCAAGGTGCCAGTCTGGGAGCCCCAGGACTGGCAGCAACAGCTGGTCAACATCCGTGCCATGAGGAACAAA
AAGGATGCACCTGTGGACCATCTGGGGACTGAGCACTGCTATGACTCCAGTGCCCCCCCAAAGGTACGCAGGTACCAGGTGCTGCTGTCACTGATGCTCTCCAGC
CAAACCAAAGACCAGGTGACGGCGGGCGCCATGCAGCGACTGCGGGCGCGGGGCCTGACGGTGGACAGCATCCTGCAGACAGATGATGCCACGCTGGGCAAGCTC
ATCTACCCCGTCGGTTTCTGGAGGAGCAAGGTGAAATACATCAAGCAGACCAGCGCCATCCTGCAGCAGCACTACGGTGGGGACATCCCAGCCTCTGTGGCCGAG
CTGGTGGCGCTGCCGGGTGTTGGGCCCAAGATGGCACACCTGGCTATGGCTGTGGCCTGGGGCACTGTGTCAGGCATTGCAGTGGACACGCATGTGCACAGAATC
GCCAACAGGCTGAGGTGGACCAAGAAGGCAACCAAGTCCCCAGAGGAGACCCGCGCCGCCCTGGAGGAGTGGCTGCCTAGGGAGCTGTGGCACGAGATCAATGGA
CTCTTGGTGGGCTTCGGCCAGCAGACCTGTCTGCCTGTGCACCCTCGCTGCCACGCCTGCCTCAACCAAGCCCTCTGCCCGGCCGCCCAGGGTCTCTGA
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>NTHL1|4913|protein
MCSPQESGMTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWEPQDWQQQLVNIRAMRNK
KDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAE
LVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL
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MCSPQESGMTALSARMLTRSRSLGPGAGPRGCREEPGPLRRREAAAEARKSHSPVKRPRKAQRLRVAYEGSDSEKGEGAEPLKVPVWEPQDWQQQLVNIRAMRNK
KDAPVDHLGTEHCYDSSAPPKVRRYQVLLSLMLSSQTKDQVTAGAMQRLRARGLTVDSILQTDDATLGKLIYPVGFWRSKVKYIKQTSAILQQHYGGDIPASVAE
LVALPGVGPKMAHLAMAVAWGTVSGIAVDTHVHRIANRLRWTKKATKSPEETRAALEEWLPRELWHEINGLLVGFGQQTCLPVHPRCHACLNQALCPAAQGL
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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 (1) | 1 (2) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (4) |
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 | ||||||
| Gazzellone MJ, 2014 | China | - |  | | - | - | - | - | - | 104 | 2108 | 2212 |
Linkage Studies Top