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          • Home
          • › Search Tool
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          • › Hs00855195_cn
          See other PICALM CNV Assays ›
          Gene Symbol
          PICALM
          Assay Reference Genome
          Location

          Chr.11:85958703 on build GRCh38
          Cytoband
          Assay ID Hs00855195_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          Online offer:
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          8301

          Gene Name:

          phosphatidylinositol binding clathrin assembly protein

          Gene Aliases:

          CALM, CLTH, LAP

          Location:

          Chr.11:85957175-86069860 on Build GRCh38

          Assay Gene Location:

          Within Exon 23
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          PICALM NM_001008660.3 20 2480 NP_001008660.1
          NM_001206946.2 20 2585 NP_001193875.1
          NM_001206947.2 19 2163 NP_001193876.1
          NM_001411034.1 19 2546 NP_001397963.1
          NM_007166.4 20 2606 NP_009097.2
          XM_005274322.4 22 2733 XP_005274379.1
          XM_005274326.4 21 2630 XP_005274383.1
          XM_005274328.4 21 2615 XP_005274385.1
          XM_005274329.5 20 2591 XP_005274386.1
          XM_005274334.4 19 2531 XP_005274391.1
          XM_005274336.4 20 2465 XP_005274393.1
          XM_005274337.4 18 2441 XP_005274394.1
          XM_005274340.4 17 2291 XP_005274397.1
          XM_017018381.3 21 2594 XP_016873870.1
          XM_017018383.3 19 2456 XP_016873872.1
          XM_017018384.3 19 2441 XP_016873873.1
          XM_017018385.3 18 2426 XP_016873874.1
          XM_017018386.3 18 2396 XP_016873875.1
          XM_017018387.3 18 2381 XP_016873876.1
          XM_017018388.3 19 2372 XP_016873877.1
          XM_024448700.2 21 2609 XP_024304468.1
          XM_047427659.1 20 2570 XP_047283615.1
          XM_047427660.1 22 2440 XP_047283616.1
          XM_047427661.1 19 2525 XP_047283617.1
          XM_047427662.1 19 2510 XP_047283618.1
          XM_047427663.1 18 2420 XP_047283619.1
          XM_047427665.1 18 2348 XP_047283621.1
          XM_047427666.1 19 2148 XP_047283622.1
          XM_047427667.1 17 2288 XP_047283623.1
          XM_047427668.1 17 2276 XP_047283624.1
          XM_047427669.1 16 2183 XP_047283625.1
          AB210017.1 20 2598 BAE06099.2
          AK128786.1 1 347
          AK291414.1 21 2486 BAF84103.1
          AK297062.1 12 1363 BAG59583.1
          BC048259.1 20 2380 AAH48259.2
          BC064357.1 20 2455 AAH64357.1
          BC073961.1 20 2329 AAH73961.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv6458226 Chr.11:85929192 - 85974323 on Build GRCh38 Duplication PICALM
          nsv1035489 Chr.11:85791910 - 86067187 on Build GRCh38 Gain CCDC83 PICALM SYTL2
          nsv1053808 Chr.11:85877876 - 86046651 on Build GRCh38 Gain CCDC83 PICALM
          dgv1247n100 Chr.11:85930576 - 85973892 on Build GRCh38 Gain PICALM
          nsv5920899 Chr.11:85426274 - 86526514 on Build GRCh38 Deletion CCDC81 CCDC89 TMEM126B TMEM126A PICALM MIR6755 CREBZF ME3 CCDC83 LOC100289518 SYTL2 DLG2 HIKESHI EED
          nsv6475333 Chr.11:85864472 - 86045913 on Build GRCh38 Duplication CCDC83 PICALM

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          More Information


          Set Membership:

          Intragenic Exonic DGV Variation

          Gene Ontology Categories:

          Function(s) Process(es)

          cellular iron ion homeostasis
          endocytosis
          receptor-mediated endocytosis
          membrane budding
          axonogenesis
          learning or memory
          negative regulation of gene expression
          synaptic vesicle maturation
          vesicle-mediated transport
          endosomal transport
          hemopoiesis
          regulation of endocytosis
          receptor internalization
          regulation of protein localization
          cargo loading into vesicle
          positive regulation of transcription, DNA-templated
          positive regulation of Ras protein signal transduction
          regulation of receptor-mediated endocytosis
          negative regulation of receptor-mediated endocytosis
          clathrin coat assembly
          dendrite morphogenesis
          multicellular organismal iron ion homeostasis
          protein-containing complex assembly
          clathrin-mediated endocytosis
          regulation of vesicle size
          membrane bending
          amyloid-beta clearance by transcytosis
          regulation of beta-amyloid formation
          positive regulation of beta-amyloid formation
          regulation of amyloid precursor protein catabolic process
          positive regulation of amyloid precursor protein catabolic process
          negative regulation of protein localization to plasma membrane
          negative regulation of protein localization to cell surface
          SNARE binding
          beta-amyloid binding
          protein binding
          phospholipid binding
          1-phosphatidylinositol binding
          phosphatidylinositol-4,5-bisphosphate binding
          clathrin binding
          small GTPase binding
          clathrin heavy chain binding
          cadherin binding
          tau protein binding
          low-density lipoprotein particle receptor binding

          Back To Top

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