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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: COL18A1 ENSG00000182871

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Description

collagen, type XVIII, alpha 1 [Source:HGNC Symbol;Acc:2195]

Gene Synonyms

KNO, KNO1, KS

Location

Chromosome 21: 46,825,052-46,933,634 forward strand.

GRCh37:CM000683.1

About this gene

This gene has 7 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000355480.5	COL18A1-001	5924	1519aa	ENSP00000347665.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42972	D3DSM5 P39060	NM_030582.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000359759.4	COL18A1-201	6607	1754aa	ENSP00000352798.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		P39060	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000400337.2	COL18A1-002	5436	1339aa	ENSP00000383191.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS42971	D3DSM4 P39060	NM_130445.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000342220.5	COL18A1-003	3386	687aa	ENSP00000339118.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding		H7BXV5	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000423214.1	COL18A1-005	839	280aa	ENSP00000415692.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000459895.1	COL18A1-006	588	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473212.1	COL18A1-004	2515	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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