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Aliases for SBDSP1 Gene

Aliases for SBDSP1 Gene

  • Shwachman-Bodian-Diamond Syndrome Pseudogene 1 2 3 5
  • Shwachman-Bodian-Diamond Syndrome Pseudogene 2
  • SBDSP 3

External Ids for SBDSP1 Gene

Previous HGNC Symbols for SBDSP1 Gene

  • SBDSP

Previous GeneCards Identifiers for SBDSP1 Gene

  • GC07P072299
  • GC07P068468

Summaries for SBDSP1 Gene

GeneCards Summary for SBDSP1 Gene

SBDSP1 (Shwachman-Bodian-Diamond Syndrome Pseudogene 1) is a Pseudogene.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SBDSP1 Gene

Genomics for SBDSP1 Gene

Regulatory Elements for SBDSP1 Gene

Enhancers for SBDSP1 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around SBDSP1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SBDSP1 Gene

Chromosome:
7
Start:
72,829,373 bp from pter
End:
72,837,399 bp from pter
Size:
8,027 bases
Orientation:
Plus strand

Genomic View for SBDSP1 Gene

Genes around SBDSP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SBDSP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SBDSP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBDSP1 Gene

Proteins for SBDSP1 Gene

Post-translational modifications for SBDSP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for SBDSP1 Gene

Domains & Families for SBDSP1 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for SBDSP1 Gene

Function for SBDSP1 Gene

Animal Model Products

miRNA for SBDSP1 Gene

miRTarBase miRNAs that target SBDSP1

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SBDSP1 Gene

Localization for SBDSP1 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for SBDSP1 Gene

Pathways & Interactions for SBDSP1 Gene

SuperPathways for SBDSP1 Gene

No Data Available

Interacting Proteins for SBDSP1 Gene

Gene Ontology (GO) - Biological Process for SBDSP1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SBDSP1 Gene

Drugs & Compounds for SBDSP1 Gene

No Compound Related Data Available

Transcripts for SBDSP1 Gene

Unigene Clusters for SBDSP1 Gene

Shwachman-Bodian-Diamond syndrome pseudogene 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SBDSP1 Gene

No ASD Table

Relevant External Links for SBDSP1 Gene

GeneLoc Exon Structure for
SBDSP1
ECgene alternative splicing isoforms for
SBDSP1

Expression for SBDSP1 Gene

mRNA expression in normal human tissues for SBDSP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of SBDSP1 Gene:

SBDSP1

SOURCE GeneReport for Unigene cluster for SBDSP1 Gene:

Hs.585053
genes like me logo Genes that share expression patterns with SBDSP1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SBDSP1 Gene

Orthologs for SBDSP1 Gene

Evolution for SBDSP1 Gene

ENSEMBL:
Gene Tree for SBDSP1 (if available)
TreeFam:
Gene Tree for SBDSP1 (if available)

No data available for Orthologs for SBDSP1 Gene

Paralogs for SBDSP1 Gene

No data available for Paralogs for SBDSP1 Gene

Variants for SBDSP1 Gene

Sequence variations from dbSNP and Humsavar for SBDSP1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs9770309 -- 72,835,092(+) ctgaa(A/G)gctga intron-variant
rs3762023 -- 72,830,479(+) AGTGA(C/G)CCGAG intron-variant
rs10624632 -- 72,837,879(+) GTGAC(-/A/AA)GAGTG downstream-variant-500B
rs11557422 -- 72,836,593(-) AGCCC(A/G)GGTCA nc-transcript-variant
rs36043718 -- 72,837,812(-) CAAGC(A/G)ATTCT downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for SBDSP1 Gene

Variant ID Type Subtype PubMed ID
dgv1116n67 CNV gain 20364138
dgv11442n54 CNV gain 21841781
dgv11443n54 CNV gain 21841781
dgv1923e212 CNV gain 25503493
dgv6459n100 CNV loss 25217958
dgv6460n100 CNV gain 25217958
dgv6461n100 CNV gain 25217958
dgv6462n100 CNV gain 25217958
dgv6464n100 CNV gain 25217958
dgv821n27 CNV gain 19166990
esv23205 CNV gain 19812545
esv2759537 CNV gain+loss 17122850
esv2761093 CNV loss 21179565
esv33871 CNV loss 17666407
esv34349 CNV gain 17911159
esv3613672 CNV loss 21293372
esv3613673 CNV gain 21293372
esv3613675 CNV gain 21293372
esv3891144 CNV gain 25118596
nsv1017637 CNV loss 25217958
nsv1019945 CNV gain+loss 25217958
nsv1023115 CNV gain 25217958
nsv1161562 CNV duplication 26073780
nsv428171 CNV gain 18775914
nsv436901 CNV insertion 17901297
nsv442053 CNV gain 18776908
nsv469793 CNV gain 16826518
nsv520573 CNV gain+loss 19592680
nsv5790 CNV deletion 18451855
nsv607467 CNV gain 21841781
nsv970526 CNV duplication 23825009

Relevant External Links for SBDSP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SBDSP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for SBDSP1 Gene

Disorders for SBDSP1 Gene

Relevant External Links for SBDSP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SBDSP1

No disorders were found for SBDSP1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SBDSP1 Gene

Publications for SBDSP1 Gene

  1. Mutations in SBDS are associated with Shwachman-Diamond syndrome. (PMID: 12496757) Boocock G.R.B. … Rommens J.M. (Nat. Genet. 2003) 2 3 65
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3 65
  3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 65
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 65
  5. Creation of genome-wide protein expression libraries using random activation of gene expression. (PMID: 11329013) Harrington J.J. … Ducar M. (Nat. Biotechnol. 2001) 3 65

Products for SBDSP1 Gene

Sources for SBDSP1 Gene

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