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“Glioblastoma Amplified Sequence”, Victor McKusick, Mendelian Inheritance in Man, 1966. (GBAS) 膠質母細胞瘤擴增序列 。icd10=C71.9

 



Here I present: Glioblastoma Amplified Sequence”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (GBAS) 膠質母細胞瘤擴增序列icd10=C71.9.

INTRODUCTION.

Cytogenetic location 7p11.2 is amplified in approximately 40% of glioblastomas, the most common and malignant form of central nervous system (CNS) tumors.

 

Glioblastoma Amplified Sequence (GBAS) is 286-amino acid protein contains a signal peptide, a transmembrane domain, and 2 tyrosine phosphorylation sites. The GBAS is a member of the NIPSNAP gene family and designated it nipsnap homolog type-2 (NIPSNAP2) and is on cytogenetic location  7p11.2 and genomic coordinates 7:55,964,585-56,000,179.  The screenshot of the NIPSNAP2 gene 35,595 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides NIPSNAP2 in cytogenetic location are listed BENEATH.

 

 



Coordinate  Symbol  Genomic Name
7:55,764,797  PSPHP1 Phosphoserine phosphatase pseudogene 1
7:55,793,540  14-Sep Septin 14
7:55,887,456  ZNF713 Zinc finger protein 713
7:55,951,877  MRPS17 Mitochondrial ribosomal protein S17
7:55,964,585  NIPSNAP2 Nipsnap homolog 2
7:56,011,064  PSPH Phosphoserine phosphatase
7:56,051,765  CCT6A Chaperonin containing T-complex polypeptide 1, subunit 6A
7:56,064,286  SUMF2 Sulfatase-modifying factor 2
7:56,080,295  PHKG1 Phosphorylase kinase, gamma 1, muscle
7:56,101,573  CHCHD2 Coiled-coil-helix-coiled-coil-helix domain-containing protein 2

 

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