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Aliases for SBDSP1 Gene

Aliases for SBDSP1 Gene

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

External Ids for SBDSP1 Gene

Previous HGNC Symbols for SBDSP1 Gene


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. Diseases associated with SBDSP1 include shwachman-diamond syndrome.

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

Genomic Location for SBDSP1 Gene

72,829,373 bp from pter
72,837,399 bp from pter
8,027 bases
Plus strand

Genomic View for SBDSP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SBDSP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SBDSP1 Gene

No data available for Regulatory Elements 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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , 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


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
ECgene alternative splicing isoforms for

Expression for SBDSP1 Gene

mRNA expression in normal human tissues for SBDSP1 Gene

SOURCE GeneReport for Unigene cluster for SBDSP1 Gene Hs.585053

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

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for SBDSP1 Gene

Orthologs for SBDSP1 Gene

Evolution for SBDSP1 Gene

Gene Tree for SBDSP1 (if available)
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 MAF
rs6952154 -- 72,834,018(+) GTAAA(C/G)AGTCA downstream-variant-500B, intron-variant
rs6956599 -- 72,834,477(+) TTAGC(A/G)ACTAT downstream-variant-500B, intron-variant
rs6966347 -- 72,832,719(+) ggccc(C/T)tccca intron-variant
rs7780250 -- 72,832,742(+) ctgtc(A/G)ttatg intron-variant
rs7780310 -- 72,832,997(+) catat(A/G)ttttc intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2094e1 CNV Complex 17122850
dgv2095e1 CNV Complex 17122850
dgv7322n71 CNV Gain 21882294
nsv442053 CNV CNV 18776908
dgv1116n67 CNV Gain 20364138
esv33871 CNV Loss 17666407
nsv436901 CNV Insertion 17901297
dgv7323n71 CNV Loss 21882294
dgv821n27 CNV Gain 19166990
nsv520573 CNV Gain+Loss 19592680
esv34349 CNV Gain 17911159
nsv888360 CNV Gain 21882294
dgv2097e1 CNV Complex 17122850
dgv2098e1 CNV Complex 17122850
nsv428171 CNV Gain 18775914
dgv2099e1 CNV Complex 17122850
nsv469793 CNV Gain 16826518
nsv5790 CNV Loss 18451855
nsv888361 CNV Gain 21882294
nsv888362 CNV Gain 21882294
esv23205 CNV Gain 19812545

Relevant External Links for SBDSP1 Gene

HapMap Linkage Disequilibrium report

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

Disorders for SBDSP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SBDSP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
shwachman-diamond syndrome
  • shwachman syndrome
- elite association

Relevant External Links for SBDSP1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SBDSP1: view

No data available for 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 67
  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) 67
  3. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 67
  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) 67
  5. Creation of genome-wide protein expression libraries using random activation of gene expression. (PMID: 11329013) Harrington J.J. … Ducar M. (Nat. Biotechnol. 2001) 67

Products for SBDSP1 Gene

Sources for SBDSP1 Gene

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