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          • Home
          • › Search Tool
          • › Search Results
          • › Hs03978670_cn
          See other ABR CNV Assays ›
          Gene Symbol
          ABR
          Assay Reference Genome
          Location

          Chr.17:1104205 on build GRCh38
          Cytoband
          17p13.3
          Assay ID Hs03978670_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:

          29

          Gene Name:

          active BCR-related

          Gene Aliases:

          MDB

          Location:

          Chr.17:1003518-1229713 on Build GRCh38

          Assay Gene Location:

          Within Intron 8
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          ABR NM_001092.4 NP_001083.2
          NM_001159746.2 NP_001153218.1
          NM_001322840.1 NP_001309769.1
          NM_001322841.1 NP_001309770.1
          NM_021962.4 NP_068781.2
          XM_011523810.2 XP_011522112.1
          XM_011523811.2 XP_011522113.2
          XM_011523812.2 XP_011522114.1
          XM_011523813.2 XP_011522115.1
          XM_011523814.2 XP_011522116.1
          XM_011523815.2 XP_011522117.1
          XM_017024539.1 XP_016880028.1
          XM_017024540.1 XP_016880029.1
          XM_017024541.1 XP_016880030.1
          AK124547.1
          AK126882.1 BAC86734.1
          AK295191.1
          AK302682.1
          AK307827.1
          BE675741.1
          BM827672.1
          DA106008.1
          DR003682.1
          U01147.1 AAC50063.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv952096 Chr.17:1064861 - 1162806 on Build GRCh38 Deletion ABR
          dgv3081n100 Chr.17:1095450 - 1360904 on Build GRCh38 Gain TUSC5 BHLHA9 ABR YWHAE
          esv3582465 Chr.17:810128 - 1198045 on Build GRCh38 Loss NXN LOC100130876 TIMM22 MIR3183 ABR LOC101927727
          esv2758673 Chr.17:718346 - 1158111 on Build GRCh38 Gain FAM57A DBIL5P NXN LOC100130876 TIMM22 MIR3183 MRM3 ABR LOC101927727 GEMIN4 GLOD4
          dgv3080n100 Chr.17:987971 - 1330752 on Build GRCh38 Gain TUSC5 TIMM22 MIR3183 BHLHA9 ABR
          nsv833333 Chr.17:1075659 - 1138453 on Build GRCh38 Loss ABR
          nsv827852 Chr.17:950823 - 1269504 on Build GRCh38 Gain NXN TIMM22 MIR3183 ABR
          nsv833332 Chr.17:1057039 - 1148078 on Build GRCh38 Loss ABR
          nsv509644 Chr.17:1025673 - 1214403 on Build GRCh38 Insertion ABR
          nsv470566 Chr.17:992950 - 1107238 on Build GRCh38 Loss TIMM22 MIR3183 ABR
          esv2422420 Chr.17:210752 - 1113141 on Build GRCh38 Duplication LOC100130876 MIR3183 GEMIN4 FAM57A DBIL5P LOC100506388 NXN TIMM22 FAM101B MRM3 ABR LOC101927727 RPH3AL C17orf97 GLOD4 VPS53 LOC105371430
          nsv1064415 Chr.17:801817 - 1218541 on Build GRCh38 Gain NXN LOC100130876 TIMM22 MIR3183 ABR LOC101927727

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          More Information


          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation

          Panther Classification:

          Molecular Function -

          G-protein modulator

          Gene Ontology Categories:

          Function(s) Process(es)

          negative regulation of cellular extravasation
          small GTPase mediated signal transduction
          brain development
          actin cytoskeleton organization
          response to lipopolysaccharide
          regulation of Rho protein signal transduction
          inner ear morphogenesis
          positive regulation of apoptotic process
          regulation of vascular permeability
          negative regulation of neutrophil degranulation
          positive regulation of GTPase activity
          negative regulation of inflammatory response
          positive regulation of phagocytosis
          neuromuscular process controlling balance
          regulation of small GTPase mediated signal transduction
          negative regulation of blood vessel remodeling
          guanyl-nucleotide exchange factor activity
          Rho guanyl-nucleotide exchange factor activity
          GTPase activator activity

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          Host server : magellan-search-green-b49b87d85-pgj68:80/100.66.79.163:80.
          git-commit: 5b8c860b7cdb41e9cfe07630520f6b51e109d38e
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