KEGG   VARIANT: 4609v1
Entry
4609v1                      Variant                                
Name
MYC amplification
Gene
MYC  MYC proto-oncogene, bHLH transcription factor [KO:K04377]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
amplification
ClinVar: 160870 394884 153231 151754 149554
dbVar: nsv1067711 nsv2774782 nsv995229 nsv931643 nsv915813
Network
nt06230  Cell cycle (cancer)
nt06267  Small cell lung cancer
Disease
H00013  Small cell lung cancer
Reference
PMID:9508209
  Authors
Salgia R, Skarin AT
  Title
Molecular abnormalities in lung cancer.
  Journal
J Clin Oncol 16:1207-17 (1998)
DOI:10.1200/JCO.1998.16.3.1207
Reference
PMID:12379883
  Authors
Osada H, Takahashi T.
  Title
Genetic alterations of multiple tumor suppressors and oncogenes in the carcinogenesis and progression of lung cancer.
  Journal
Oncogene 21:7421-34 (2002)
DOI:10.1038/sj.onc.1205802
Reference
PMID:15769940
  Authors
Meuwissen R, Berns A.
  Title
Mouse models for human lung cancer.
  Journal
Genes Dev 19:643-64 (2005)
DOI:10.1101/gad.1284505
LinkDB

KEGG   Homo sapiens (human): 4149
Entry
4149              CDS       T01001                                 
Symbol
MAX, PDMCS, bHLHd4
Name
(RefSeq) MYC associated factor X
  KO
K04453  Max protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa03083  Polycomb repressive complex
hsa04010  MAPK signaling pathway
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
hsa05222  Small cell lung cancer
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06230  Cell cycle (cancer)
nt06240  Transcription (cancer)
nt06267  Small cell lung cancer
nt06523  Epigenetic regulation by Polycomb complexes
nt06526  MAPK signaling
  Element
N00088  Amplified MYC to p15-cell cycle G1/S
N00089  Amplified MYC to cell cycle G1/S
N00090  p15-Cell cycle G1/S
N00092  Amplified MYC to p27-cell cycle G1/S
N00131  Amplified MYCN to transcriptional activation
N00132  Amplified MYCN to transcriptional repression
N01602  ERK-MYC signaling pathway
N01614  Activation of PRC2.2 by ubiquitination of H2AK119 in germline genes
Disease
H01510  Malignant paraganglioma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    4149 (MAX)
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    4149 (MAX)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    4149 (MAX)
   05202 Transcriptional misregulation in cancer
    4149 (MAX)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    4149 (MAX)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    4149 (MAX)
   03036 Chromosome and associated proteins [BR:hsa03036]
    4149 (MAX)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Basic helix-loop-helix/leucine zipper (bHLH-ZIP)
   Cell cycle controlling factors, Mad/Max
    4149 (MAX)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   Polycomb repressive complex (PRC) and associated proteins
    Noncanonical PRC1 (PRC1.6)
     4149 (MAX)
SSDB
Motif
Pfam: HLH JetA Filament bZIP_2 SlyX SLX9 GAGA_bind DUF4763 XhlA Csm1_N ATG16
Other DBs
NCBI-GeneID: 4149
NCBI-ProteinID: NP_002373
OMIM: 154950
HGNC: 6913
Ensembl: ENSG00000125952
Pharos: P61244(Tbio)
UniProt: P61244 Q8TAX8
Structure
LinkDB
Position
14:complement(65006101..65102695)
AA seq 160 aa
MSDNDDIEVESDEEQPRFQSAADKRAHHNALERKRRDHIKDSFHSLRDSVPSLQGEKASR
AQILDKATEYIQYMRRKNHTHQQDIDDLKRQNALLEQQVRALEKARSSAQLQTNYPSSDN
SLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS
NT seq 483 nt   +upstreamnt  +downstreamnt
atgagcgataacgatgacatcgaggtggagagcgacgaagagcaaccgaggtttcaatct
gcggctgacaaacgggctcatcataatgcactggaacgaaaacgtagggaccacatcaaa
gacagctttcacagtttgcgggactcagtcccatcactccaaggagagaaggcatcccgg
gcccaaatcctagacaaagccacagaatatatccagtatatgcgaaggaaaaaccacaca
caccagcaagatattgacgacctcaagcggcagaatgctcttctggagcagcaagtccgt
gcactggagaaggcgaggtcaagtgcccaactgcagaccaactacccctcctcagacaac
agcctctacaccaacgccaagggcagcaccatctctgccttcgatgggggctcggactcc
agctcggagtctgagcctgaagagccccaaagcaggaagaagctccggatggaggccagc
taa

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