Evidence Details for CELA1
Basic Information Top
| Gene Symbol: | CELA1 ( ELA1 ) |
|---|---|
| Gene Full Name: | chymotrypsin-like elastase family, member 1 |
| Band: | 12q13.13 |
| Quick Links | Entrez ID:1990; OMIM: 130120; Uniprot ID:CELA1_HUMAN; ENSEMBL ID: ENSG00000139610; HGNC ID: 3308 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>CELA1|1990|nucleotide
ATGCTGGTCCTTTATGGACACAGCACCCAGGACCTTCCGGAAACCAATGCCCGCGTAGTCGGAGGGACTGAGGCCGGGAGGAATTCCTGGCCCTCTCAGATTTCC
CTCCAGTACCGGTCTGGAGGTTCCCGGTATCACACCTGTGGAGGGACCCTTATCAGACAGAACTGGGTGATGACAGCTGCTCACTGCGTGGATTACCAGAAGACT
TTCCGCGTGGTGGCTGGAGACCATAACCTGAGCCAGAATGATGGCACTGAGCAGTACGTGAGTGTGCAGAAGATCGTGGTGCATCCATACTGGAACAGCGATAAC
GTGGCTGCCGGCTATGACATCGCCCTGCTGCGCCTGGCCCAGAGCGTTACCCTCAATAGCTATGTCCAGCTGGGTGTTCTGCCCCAGGAGGGAGCCATCCTGGCT
AACAACAGTCCCTGCTACATCACAGGCTGGGGCAAGACCAAGACCAATGGGCAGCTGGCCCAGACCCTGCAGCAGGCTTACCTGCCCTCTGTGGACTACGCCATC
TGCTCCAGCTCCTCCTACTGGGGCTCCACTGTGAAGAACACCATGGTGTGTGCTGGTGGAGATGGAGTTCGCTCTGGATGCCAGGGTGACTCTGGGGGCCCCCTC
CATTGCTTGGTGAATGGCAAGTATTCTGTCCATGGAGTGACCAGCTTTGTGTCCAGCCGGGGCTGTAATGTCTCCAGGAAGCCTACAGTCTTCACCCAGGTCTCT
GCTTACATCTCCTGGATAAATAATGTCATCGCCTCCAACTGA
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ATGCTGGTCCTTTATGGACACAGCACCCAGGACCTTCCGGAAACCAATGCCCGCGTAGTCGGAGGGACTGAGGCCGGGAGGAATTCCTGGCCCTCTCAGATTTCC
CTCCAGTACCGGTCTGGAGGTTCCCGGTATCACACCTGTGGAGGGACCCTTATCAGACAGAACTGGGTGATGACAGCTGCTCACTGCGTGGATTACCAGAAGACT
TTCCGCGTGGTGGCTGGAGACCATAACCTGAGCCAGAATGATGGCACTGAGCAGTACGTGAGTGTGCAGAAGATCGTGGTGCATCCATACTGGAACAGCGATAAC
GTGGCTGCCGGCTATGACATCGCCCTGCTGCGCCTGGCCCAGAGCGTTACCCTCAATAGCTATGTCCAGCTGGGTGTTCTGCCCCAGGAGGGAGCCATCCTGGCT
AACAACAGTCCCTGCTACATCACAGGCTGGGGCAAGACCAAGACCAATGGGCAGCTGGCCCAGACCCTGCAGCAGGCTTACCTGCCCTCTGTGGACTACGCCATC
TGCTCCAGCTCCTCCTACTGGGGCTCCACTGTGAAGAACACCATGGTGTGTGCTGGTGGAGATGGAGTTCGCTCTGGATGCCAGGGTGACTCTGGGGGCCCCCTC
CATTGCTTGGTGAATGGCAAGTATTCTGTCCATGGAGTGACCAGCTTTGTGTCCAGCCGGGGCTGTAATGTCTCCAGGAAGCCTACAGTCTTCACCCAGGTCTCT
GCTTACATCTCCTGGATAAATAATGTCATCGCCTCCAACTGA
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>CELA1|1990|protein
MLVLYGHSTQDLPETNARVVGGTEAGRNSWPSQISLQYRSGGSRYHTCGGTLIRQNWVMTAAHCVDYQKTFRVVAGDHNLSQNDGTEQYVSVQKIVVHPYWNSDN
VAAGYDIALLRLAQSVTLNSYVQLGVLPQEGAILANNSPCYITGWGKTKTNGQLAQTLQQAYLPSVDYAICSSSSYWGSTVKNTMVCAGGDGVRSGCQGDSGGPL
HCLVNGKYSVHGVTSFVSSRGCNVSRKPTVFTQVSAYISWINNVIASN
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MLVLYGHSTQDLPETNARVVGGTEAGRNSWPSQISLQYRSGGSRYHTCGGTLIRQNWVMTAAHCVDYQKTFRVVAGDHNLSQNDGTEQYVSVQKIVVHPYWNSDN
VAAGYDIALLRLAQSVTLNSYVQLGVLPQEGAILANNSPCYITGWGKTKTNGQLAQTLQQAYLPSVDYAICSSSSYWGSTVKNTMVCAGGDGVRSGCQGDSGGPL
HCLVNGKYSVHGVTSFVSSRGCNVSRKPTVFTQVSAYISWINNVIASN
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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) | 0 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
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 | ||||||
| Szatmari, 2007 | Europe, North America | SNP microarray |  | | ASD | 1491 | - | - | - | - | - | 0 |
Linkage Studies Top