Loading…

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

Configure this page

Share this page

Bookmark this page

.

Gene: COL18A1 ENSG00000182871

.

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
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,
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	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		-	-	-

.

Summary

.

.