Human Gene CHL1 (uc003bov.2)
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Sequence and Links to Tools and Databases
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Primer design for this transcript
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Genetic Association Studies of Complex Diseases and Disorders
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Genetic Association Database (archive): CHL1
CDC HuGE Published Literature: CHL1
Positive Disease Associations: Death, Sudden, Cardiac
, Hemoglobin A, Glycosylated
, schizophrenia
Related Studies: - Death, Sudden, Cardiac
Bradley E Aouizerat et al. BMC cardiovascular disorders 2012, GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease., BMC cardiovascular disorders.
[PubMed 21658281]
We demonstrate 11 gene associations for sudden cardiac arrest due to ventricular tachycardia/ventricular fibrillation in patients with coronary artery disease. Validation studies in independent cohorts and functional studies are required to confirm these associations.
- Hemoglobin A, Glycosylated
Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
- Hemoglobin A, Glycosylated
Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
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MalaCards Disease Associations
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MalaCards Gene Search: CHL1
Diseases sorted by gene-association score: 3p- syndrome* (40), large cell carcinoma with rhabdoid phenotype (15), myositis fibrosa (8), adult mesoblastic nephroma (8), null-cell leukemia (7), gastric small cell carcinoma (7), pulmonary large cell neuroendocrine carcinoma (7), gastric tubular adenocarcinoma (6), mixed ductal-endocrine carcinoma (5), nephrogenic adenofibroma (4), peptic ulcer perforation (4), schizophrenia (1), autonomic nervous system neoplasm (1), peripheral nervous system neoplasm (1) * = Manually curated disease association
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Comparative Toxicogenomics Database (CTD)
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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Orthologous Genes in Other Species
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Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse | Rat | Zebrafish | D. melanogaster | C. elegans | S. cerevisiae |
No ortholog | No ortholog | No ortholog | No ortholog | No ortholog | No ortholog |
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Descriptions from all associated GenBank mRNAs
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AB209329 - Homo sapiens mRNA for Neural cell adhesion molecule variant protein. AF002246 - Homo sapiens neural cell adhesion molecule (CALL) mRNA, complete cds. AK126878 - Homo sapiens cDNA FLJ44930 fis, clone BRAMY3015549, highly similar to Neural cell adhesion molecule L1-like protein precursor. AK055236 - Homo sapiens cDNA FLJ30674 fis, clone FCBBF1000748. JD320164 - Sequence 301188 from Patent EP1572962. AL359583 - Homo sapiens mRNA; cDNA DKFZp547L174 (from clone DKFZp547L174). CR749682 - Homo sapiens mRNA; cDNA DKFZp547L174 (from clone DKFZp547L174).
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Other Names for This Gene
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Alternate Gene Symbols: NR_045572 UCSC ID: uc003bov.2 RefSeq Accession: NR_045572
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Gene Model Information
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category:
| nearCoding
| nonsense-mediated-decay:
| no
| RNA accession:
| NR_045572.1
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exon count:
| 3 | CDS single in 3' UTR:
| no
| RNA size:
| 2585 |
ORF size:
| 0 | CDS single in intron:
| no
| Alignment % ID:
| 100.00 |
txCdsPredict score:
| 363.00 | frame shift in genome:
| no
| % Coverage:
| 99.11 |
has start codon:
| no
| stop codon in genome:
| no
| # of Alignments:
| 1 |
has end codon:
| no
| retained intron:
| no
| # AT/AC introns
| 0 |
selenocysteine:
| no
| end bleed into intron:
| 0 | # strange splices:
| 0 |
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Click here
for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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Click here
for details on how this gene model was made and data restrictions if any.
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