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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.

Additional gene information for COL6A4P1 Gene

No data available for CIViC summary , 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
GH03H015287 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -86.5 -86493 10.9 HNRNPUL1 PKNOX1 ATF1 SIN3A BRCA1 YY1 TCF12 GATA2 ZNF143 FOS SH3BP5 CAPN7 CCDC174 EAF1 NR2C2 RPS24P10 SH3BP5-AS1 RNU6-454P COL6A4P1 RNU6-1024P
GH03H015629 2 FANTOM5 Ensembl ENCODE dbSUPER 9.6 -428.5 -428528 9.5 PKNOX1 ARNT SIN3A FEZF1 YY1 ZNF766 ZNF143 FOS DEK JUNB EAF1 CAPN7 COL6A4P1 COLQ HACL1 BTD SH3BP5 ANKRD28 PIR61991
GH03H015267 1.6 Ensembl ENCODE dbSUPER 11.1 -65.1 -65095 6.3 HNRNPUL1 HDGF PKNOX1 ARNT SIN3A CBX5 ZNF143 ZNF207 FOS JUNB CAPN7 CCDC174 SH3BP5-AS1 NR2C2 RNU6-454P SH3BP5 COL6A4P1 RNU6-1024P RBSN FGD5-AS1
GH03H015408 1.4 FANTOM5 Ensembl ENCODE 10.5 -203.4 -203423 1.3 FOXA2 MAX REST RAD21 FOXA1 GABPA YY1 JUND ATF3 ZBTB33 EAF1-AS1 EAF1 CAPN7 SH3BP5 RPS24P10 COL6A4P1 ANKRD28 COLQ NR2C2 GC03P015427
GH03H015344 1.4 Ensembl ENCODE dbSUPER 10.1 -140.8 -140776 4.5 FOXA2 PKNOX1 BMI1 ZBTB40 ZNF766 GATA2 ATF7 RUNX3 IKZF2 CREM CAPN7 SH3BP5-AS1 CCDC174 COL6A4P1 NR2C2 EAF1-AS1 RBSN SH3BP5 GC03M015375
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around COL6A4P1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for COL6A4P1 Gene

Genomic Locations for COL6A4P1 Gene
chr3:15,151,833-15,205,959
(GRCh38/hg38)
Size:
54,127 bases
Orientation:
Minus strand
chr3:15,193,340-15,247,466
(GRCh37/hg19)

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

Phenotypes From GWAS Catalog for COL6A4P1 Gene

Animal Model Products

Clone 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 , Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for COL6A4P1 Gene

No Compound Related Data Available

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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
rs1000045088 -- 15,168,173(+) ATGAA(A/G)TTCAC intron-variant
rs1000104039 -- 15,174,666(+) GATGC(C/T)GGGCA intron-variant
rs1000135548 -- 15,194,591(+) CTCAA(C/G)ATGGA intron-variant
rs1000176395 -- 15,180,697(+) ATCTA(-/T)TTTTT intron-variant
rs1000183423 -- 15,197,724(+) TCCAT(G/T)AAAGA intron-variant

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

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

Relevant External Links for COL6A4P1 Gene

Human Gene Mutation Database (HGMD)
COL6A4P1
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 biology : journal of the International Society for Matrix Biology 2009) 2 3 60
  2. [Genomic study of susceptibility genes for common bone and joint diseases]. (PMID: 19507504) Ikegawa S (Nihon rinsho. Japanese journal of clinical medicine 2009) 2 3 60
  3. Single Nucleotide Polymorphisms and Osteoarthritis: An Overview and a Meta-Analysis. (PMID: 26886631) Wang T … Zheng Q (Medicine 2016) 3 60
  4. DVWA gene polymorphisms and osteoarthritis. (PMID: 25648366) Bravatà V … Messa C (BMC research notes 2015) 3 60
  5. Cloning and characterization of the osteoarthritis-associated gene DVWA. (PMID: 21057832) Nakajima M … Ikegawa S (Journal of bone and mineral metabolism 2011) 3 60

Products for COL6A4P1 Gene

Sources for COL6A4P1 Gene

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