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Aliases for COL6A4P1 Gene

Aliases for COL6A4P1 Gene

  • Collagen Type VI Alpha 4 Pseudogene 1 2 3 5
  • Von Willebrand Factor A Domain Containing 6 2 3
  • Collagen, Type VI, Alpha 4, Pseudogene 2 3
  • Dual Von Willebrand Factor A Domains 2 3
  • Dual Intracellular Von Willebrand Factor Domain A 3
  • Collagen, Type VI, Alpha 4 Pseudogene 1 2
  • Collagen VI Alpha 4 Pseudogene 1 3
  • Collagen, Type VI, Alpha 4 2
  • COL6A4P 3
  • COL6A4 3
  • Diva 3
  • VWA6 3
  • DVWA 3

External Ids for COL6A4P1 Gene

Previous HGNC Symbols for COL6A4P1 Gene

  • DVWA

Previous GeneCards Identifiers for COL6A4P1 Gene

  • GC03M015187
  • GC03M015142
  • GC03M015193

Summaries for COL6A4P1 Gene

Entrez Gene Summary for COL6A4P1 Gene

  • This transcribed pseudogene represents the 5' end of a presumed ortholog to a mouse gene which encodes a collagen VI alpha 4 chain protein (GeneID 68553). No complete ORF of comparable size to the mouse protein is found in this gene. The predicted protein lacks a signal peptide; however, this truncated collagen polypeptide may have achieved a different function as suggested by PubMed ID: 18622395. Evidence of in vivo translation is incomplete. A large chromosome break separates this pseudogene from the 3' end of the presumed ortholog (COL6A4P2, GeneID 646300) which is located downstream at chromosome 3q21.3. [provided by RefSeq, Jun 2009]

GeneCards Summary for COL6A4P1 Gene

COL6A4P1 (Collagen Type VI Alpha 4 Pseudogene 1) is a Pseudogene.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for COL6A4P1 Gene

Genomics for COL6A4P1 Gene

Regulatory Elements for COL6A4P1 Gene

Enhancers for COL6A4P1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F015243 0.3 FANTOM5 11.7 -38.1 -38124 0.2 PKNOX1 ZKSCAN1 CAPN7 COL6A4P1 NR2C2 RBSN SH3BP5 SH3BP5-AS1
GH03F015245 0.4 FANTOM5 11.7 -39.2 -39215 0.1 CAPN7 EAF1 METTL6 COL6A4P1 RNU6-1024P EAF1-AS1 SH3BP5 NR2C2 COLQ RBSN
GH03F015180 0.8 ENCODE 11.2 +25.4 25404 0.9 PKNOX1 MTA2 TRIM22 TBX21 ZBTB40 RELA ZFHX2 IKZF1 NBN SH3BP5-AS1 RPS24P10 COL6A4P1 CAPN7 RBSN RPS3AP53
GH03F015256 0.6 ENCODE 11.2 -51.0 -51005 0.7 FOSL1 POLR2A ZBTB11 JUNB CAPN7 COL6A4P1 RBSN PIR49400 SH3BP5-AS1
GH03F015267 0.5 Ensembl ENCODE 11.1 -67.3 -67275 10.7 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A FEZF1 ZNF2 ZNF766 CBX5 CAPN7 SH3BP5 RNU6-454P FGD5 COL6A4P1 RNU6-1024P ENSG00000270409 SH3BP5-AS1 RBSN FGD5-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around COL6A4P1 on UCSC Golden Path with GeneCards custom track

Genomic Location for COL6A4P1 Gene

Chromosome:
3
Start:
15,151,833 bp from pter
End:
15,205,959 bp from pter
Size:
54,127 bases
Orientation:
Minus strand

Genomic View for COL6A4P1 Gene

Genes around COL6A4P1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
COL6A4P1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for COL6A4P1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for COL6A4P1 Gene

Proteins for COL6A4P1 Gene

Post-translational modifications for COL6A4P1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for COL6A4P1 Gene

Domains & Families for COL6A4P1 Gene

Gene Families for COL6A4P1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with COL6A4P1: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for COL6A4P1 Gene

Function for COL6A4P1 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for COL6A4P1 Gene

Localization for COL6A4P1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for COL6A4P1 Gene

Pathways & Interactions for COL6A4P1 Gene

SuperPathways for COL6A4P1 Gene

No Data Available

Interacting Proteins for COL6A4P1 Gene

Gene Ontology (GO) - Biological Process for COL6A4P1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for COL6A4P1 Gene

Transcripts for COL6A4P1 Gene

mRNA/cDNA for COL6A4P1 Gene

(2) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for COL6A4P1 Gene

Collagen, type VI, alpha 4 pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for COL6A4P1 Gene

No ASD Table

Relevant External Links for COL6A4P1 Gene

GeneLoc Exon Structure for
COL6A4P1
ECgene alternative splicing isoforms for
COL6A4P1

Expression for COL6A4P1 Gene

mRNA expression in normal human tissues for COL6A4P1 Gene

mRNA differential expression in normal tissues according to GTEx for COL6A4P1 Gene

This gene is overexpressed in Nerve - Tibial (x8.4), Cervix - Ectocervix (x7.0), Vagina (x6.4), and Bladder (x6.2).

NURSA nuclear receptor signaling pathways regulating expression of COL6A4P1 Gene:

COL6A4P1

SOURCE GeneReport for Unigene cluster for COL6A4P1 Gene:

Hs.722756
genes like me logo Genes that share expression patterns with COL6A4P1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for COL6A4P1 Gene

Orthologs for COL6A4P1 Gene

Evolution for COL6A4P1 Gene

ENSEMBL:
Gene Tree for COL6A4P1 (if available)
TreeFam:
Gene Tree for COL6A4P1 (if available)

No data available for Orthologs for COL6A4P1 Gene

Paralogs for COL6A4P1 Gene

No data available for Paralogs for COL6A4P1 Gene

Variants for COL6A4P1 Gene

Sequence variations from dbSNP and Humsavar for COL6A4P1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10460974 -- 15,167,891(+) ACATG(A/G)CAAAT intron-variant
rs11128737 -- 15,195,786(+) TAATG(C/G)ATGGT intron-variant
rs11128738 -- 15,200,989(+) taaat(A/T)cattt intron-variant
rs11128739 -- 15,203,975(+) ACTAT(A/G)CTCTG intron-variant
rs111337609 -- 15,201,964(+) CAACA(A/G)GAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for COL6A4P1 Gene

Variant ID Type Subtype PubMed ID
dgv4687n100 CNV gain 25217958
nsv1151847 CNV duplication 26484159
nsv428413 CNV gain 18775914

Relevant External Links for COL6A4P1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
COL6A4P1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for COL6A4P1 Gene

Disorders for COL6A4P1 Gene

Relevant External Links for COL6A4P1

Human Genome Epidemiology (HuGE) Navigator
COL6A4P1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
COL6A4P1

No disorders were found for COL6A4P1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for COL6A4P1 Gene

Publications for COL6A4P1 Gene

  1. The knee osteoarthritis susceptibility locus DVWA on chromosome 3p24.3 is the 5' part of the split COL6A4 gene. (PMID: 19486942) Wagener R. … Zaucke F. (Matrix Biol. 2009) 2 3 64
  2. [Genomic study of susceptibility genes for common bone and joint diseases]. (PMID: 19507504) Ikegawa S. (Nippon Rinsho 2009) 2 3 64
  3. Single Nucleotide Polymorphisms and Osteoarthritis: An Overview and a Meta-Analysis. (PMID: 26886631) Wang T. … Zheng Q. (Medicine (Baltimore) 2016) 3 64
  4. DVWA gene polymorphisms and osteoarthritis. (PMID: 25648366) BravatA V. … Messa C. (BMC Res Notes 2015) 3 64
  5. Lack of evidence for association between DVWA gene polymorphisms and developmental dysplasia of the hip in Chinese Han population. (PMID: 20238217) Zhu L. … Jiang Q. (Rheumatol. Int. 2011) 3 64

Products for COL6A4P1 Gene

Sources for COL6A4P1 Gene

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