Evidence Details for CLN8
Basic Information Top
| Gene Symbol: | CLN8 ( C8orf61,EPMR,FLJ39417 ) |
|---|---|
| Gene Full Name: | ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) |
| Band: | 8p23.3 |
| Quick Links | Entrez ID:2055; OMIM: 607837; Uniprot ID:CLN8_HUMAN; ENSEMBL ID: ENSG00000182372; HGNC ID: 2079 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CLN8|2055|nucleotide
ATGAATCCTGCGAGCGATGGGGGCACATCAGAGAGCATTTTTGACCTGGACTATGCATCCTGGGGGATCCGCTCCACGCTGATGGTCGCTGGCTTTGTCTTCTAC
TTGGGCGTCTTTGTGGTCTGCCACCAGCTGTCCTCTTCCCTGAATGCCACTTACCGTTCTTTGGTGGCCAGAGAGAAGGTCTTCTGGGACCTGGCGGCCACGCGT
GCAGTCTTTGGTGTTCAGAGCACAGCCGCAGGCCTGTGGGCTCTGCTGGGGGACCCTGTGCTGCATGCCGACAAGGCGCGTGGCCAGCAGAACTGGTGCTGGTTT
CACATCACGACAGCAACGGGATTCTTTTGCTTTGAAAATGTTGCAGTCCACCTGTCCAACTTGATCTTCCGGACATTTGACTTGTTTCTGGTTATCCACCATCTC
TTTGCCTTTCTTGGGTTTCTTGGCTGCTTGGTCAATCTCCAAGCTGGCCACTATCTAGCTATGACCACGTTGCTCCTGGAGATGAGCACGCCCTTTACCTGCGTT
TCCTGGATGCTCTTAAAGGCGGGCTGGTCCGAGTCTCTGTTTTGGAAGCTCAACCAGTGGCTGATGATTCACATGTTTCACTGCCGCATGGTTCTAACCTACCAC
ATGTGGTGGGTGTGTTTCTGGCACTGGGACGGCCTGGTCAGCAGCCTGTATCTGCCTCATTTGACACTGTTCCTTGTCGGACTGGCTCTGCTTACGCTAATCATT
AATCCATATTGGACCCATAAGAAGACTCAGCAGCTTCTCAATCCGGTGGACTGGAACTTCGCACAGCCAGAAGCCAAGAGCAGGCCAGAAGGCAACGGGCAGCTG
CTGCGGAAGAAGAGGCCATAG
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ATGAATCCTGCGAGCGATGGGGGCACATCAGAGAGCATTTTTGACCTGGACTATGCATCCTGGGGGATCCGCTCCACGCTGATGGTCGCTGGCTTTGTCTTCTAC
TTGGGCGTCTTTGTGGTCTGCCACCAGCTGTCCTCTTCCCTGAATGCCACTTACCGTTCTTTGGTGGCCAGAGAGAAGGTCTTCTGGGACCTGGCGGCCACGCGT
GCAGTCTTTGGTGTTCAGAGCACAGCCGCAGGCCTGTGGGCTCTGCTGGGGGACCCTGTGCTGCATGCCGACAAGGCGCGTGGCCAGCAGAACTGGTGCTGGTTT
CACATCACGACAGCAACGGGATTCTTTTGCTTTGAAAATGTTGCAGTCCACCTGTCCAACTTGATCTTCCGGACATTTGACTTGTTTCTGGTTATCCACCATCTC
TTTGCCTTTCTTGGGTTTCTTGGCTGCTTGGTCAATCTCCAAGCTGGCCACTATCTAGCTATGACCACGTTGCTCCTGGAGATGAGCACGCCCTTTACCTGCGTT
TCCTGGATGCTCTTAAAGGCGGGCTGGTCCGAGTCTCTGTTTTGGAAGCTCAACCAGTGGCTGATGATTCACATGTTTCACTGCCGCATGGTTCTAACCTACCAC
ATGTGGTGGGTGTGTTTCTGGCACTGGGACGGCCTGGTCAGCAGCCTGTATCTGCCTCATTTGACACTGTTCCTTGTCGGACTGGCTCTGCTTACGCTAATCATT
AATCCATATTGGACCCATAAGAAGACTCAGCAGCTTCTCAATCCGGTGGACTGGAACTTCGCACAGCCAGAAGCCAAGAGCAGGCCAGAAGGCAACGGGCAGCTG
CTGCGGAAGAAGAGGCCATAG
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>CLN8|2055|protein
MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAAGLWALLGDPVLHADKARGQQNWCWF
HITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLAMTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYH
MWWVCFWHWDGLVSSLYLPHLTLFLVGLALLTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP
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MNPASDGGTSESIFDLDYASWGIRSTLMVAGFVFYLGVFVVCHQLSSSLNATYRSLVAREKVFWDLAATRAVFGVQSTAAGLWALLGDPVLHADKARGQQNWCWF
HITTATGFFCFENVAVHLSNLIFRTFDLFLVIHHLFAFLGFLGCLVNLQAGHYLAMTTLLLEMSTPFTCVSWMLLKAGWSESLFWKLNQWLMIHMFHCRMVLTYH
MWWVCFWHWDGLVSSLYLPHLTLFLVGLALLTLIINPYWTHKKTQQLLNPVDWNFAQPEAKSRPEGNGQLLRKKRP
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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 (5) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 2 (7) |
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 | ||||||
| Wassink, 2001 | USA | Chromosomal analysis of G-band |  | | autism | - | - | - | - | 278 | - | 278 |
| Yu, 2002 | USA | STS mapping |  | | PDD | 105 | - | 105 | - | - | 668 | 668 |
| Papanikolaou, 2006 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies Top