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          • Home
          • › Search Tool
          • › Search Results
          • › Hs02740268_cn
          See other TSC1 CNV Assays ›
          Gene Symbol
          TSC1
          Assay Reference Genome
          Location

          Chr.9:132911358 on build GRCh38
          Cytoband
          9q34.13
          Assay ID Hs02740268_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          7248

          Gene Name:

          tuberous sclerosis 1

          Gene Aliases:

          LAM, TSC

          Location:

          Chr.9:132891348-132945269 on Build GRCh38

          Assay Gene Location:

          Within Intron 12
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          TSC1 NM_000368.4 NP_000359.1
          NM_001162426.1 NP_001155898.1
          NM_001162427.1 NP_001155899.1
          XM_005272211.1 XP_005272268.1
          XM_006717271.1 XP_006717334.1
          XM_011518979.2 XP_011517281.1
          XM_017015096.1 XP_016870585.1
          XM_017015097.1 XP_016870586.1
          XM_017015098.1 XP_016870587.1
          XM_017015099.1 XP_016870588.1
          XM_017015100.1 XP_016870589.1
          XM_017015101.1 XP_016870590.1
          AB190910.1 BAD91314.1
          AF013168.1 AAC51674.1
          AK297326.1
          AK299654.1
          AK303030.1
          AK308412.1
          BC047772.2 10 1331 AAH47772.1
          BC070032.1 10 1359 AAH70032.1
          BC108668.1 AAI08669.1
          BC121000.2 10 1315
          KJ534953.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          esv2739138 Chr.9:132727483 - 135521553 on Build GRCh38 Deletion SURF1 TMEM8C RPL7A FCN1 ADAMTSL2 RNU6ATAC RALGDS SNORD36B PPP1R26-AS1 MIR6877 LOC101928193 SURF2 MIR4669 LOC101928525 MIR548AW DBH SURF4 SARDH TSC1 C9orf116 SNORD36C SPACA9 LOC101448202 COL5A1-AS1 MIR3689D2 MIR3689D1 MED22 PPP1R26 VAV2 GFI1B C9orf62 OLFM1 LCN1 ADAMTS13 OBP2B MIR3689C CEL SLC2A6 STKLD1 SURF6 MRPS2 MIR3689E MIR3689A WDR5 LOC105376306 CELP RXRA CACFD1 FAM163B LOC100130548 BRD3 GTF3C5 DBH-AS1 MIR3689F SNORD36A SNORD24 GBGT1 LOC401557 REXO4 FCN2 COL5A1 AK8 LOC100996574 MIR3689B SNORD141A ABO LINC00094
          nsv831743 Chr.9:132820292 - 132982548 on Build GRCh38 Loss TSC1 GFI1B MIR548AW AK8 SPACA9

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          kidney development
          neural tube closure
          regulation of cell-matrix adhesion
          adaptive immune response
          rRNA export from nucleus
          regulation of translation
          potassium ion transport
          cell cycle arrest
          cell-matrix adhesion
          negative regulation of cell proliferation
          adult locomotory behavior
          negative regulation of macroautophagy
          negative regulation of translation
          hippocampus development
          cerebral cortex development
          cell projection organization
          negative regulation of TOR signaling
          response to insulin
          myelination
          memory T cell differentiation
          regulation of phosphoprotein phosphatase activity
          negative regulation of cell size
          regulation of protein kinase activity
          glucose import
          negative regulation of insulin receptor signaling pathway
          synapse organization
          protein stabilization
          protein heterooligomerization
          regulation of stress fiber assembly
          regulation of cell cycle
          positive regulation of focal adhesion assembly
          cardiac muscle cell differentiation
          activation of GTPase activity
          cellular response to oxygen-glucose deprivation
          regulation of neuron death
          protein binding
          GTPase regulator activity
          GTPase activating protein binding
          protein N-terminus binding
          chaperone binding

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          Host server : magellan-search-green-b49b87d85-8dsbr:80/100.66.76.150:80.
          git-commit: 5b8c860b7cdb41e9cfe07630520f6b51e109d38e
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