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Gene : ADAMTSL1 Homo sapiens

Name  ? ADAMTS like 1 Cytological Location  9p22.2-p22.1
Brief Description  ADAMTS like 1
description  This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
  • synonyms:
  • PUNCTIN,
  • FLJ35283,
  • AF176313,
  • C9orf94,
  • uc003zne.5,
  • ADAMTSL-1,
  • ADAMTSR1,
  • ADAMTSL1,
  • HGNC:14632,
  • punctin,
  • OTTHUMG00000019604,
  • C9orf94,
  • NM_001040272,
  • chromosome 9 open reading frame 94,
  • ADAMTSR1
  • identifiers:
  • 92949,
  • ENSG00000178031,
  • ADAMTSL1

Genome feature

Region: gene ? Length: 1004436  
Location: 9:17906515-18910950 Cyto location: 9p22.2-p22.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

258 SN Ps

5 Cross References

14 Data Sets

29 Homologues

0 Located Features

90 Rna Seq Results