KEGG   VARIANT: 4613v1
Entry
4613v1                      Variant                                
Name
MYCN amplification
Gene
MYCN  MYCN proto-oncogene, bHLH transcription factor [KO:K09109]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
amplification
ClinVar: 153441 148269
dbVar: nsv995434 nsv817269
Network
nt06240  Transcription (cancer)
Disease
H00043  Neuroblastoma
Reference
PMID:17976976
  Authors
Ishola TA, Chung DH
  Title
Neuroblastoma.
  Journal
Surg Oncol 16:149-56 (2007)
DOI:10.1016/j.suronc.2007.09.005
Reference
PMID:24086065
  Authors
Huang M, Weiss WA
  Title
Neuroblastoma and MYCN.
  Journal
Cold Spring Harb Perspect Med 3:a014415 (2013)
DOI:10.1101/cshperspect.a014415
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 Filament bZIP_2 JetA SlyX Jnk-SapK_ap_N DUF5595 GAGA_bind SLX9 DUF4763 Csm1_N ATG16
Other DBs
NCBI-GeneID: 4149
NCBI-ProteinID: NP_002373
OMIM: 154950
HGNC: 6913
Ensembl: ENSG00000125952
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

KEGG   Homo sapiens (human): 6667
Entry
6667              CDS       T01001                                 
Symbol
SP1
Name
(RefSeq) Sp1 transcription factor
  KO
K04684  transcription factor Sp1
Organism
hsa  Homo sapiens (human)
Pathway
hsa01522  Endocrine resistance
hsa04137  Mitophagy - animal
hsa04350  TGF-beta signaling pathway
hsa04915  Estrogen signaling pathway
hsa04927  Cortisol synthesis and secretion
hsa04928  Parathyroid hormone synthesis, secretion and action
hsa04934  Cushing syndrome
hsa05016  Huntington disease
hsa05017  Spinocerebellar ataxia
hsa05163  Human cytomegalovirus infection
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
hsa05224  Breast cancer
hsa05231  Choline metabolism in cancer
hsa05415  Diabetic cardiomyopathy
Network
nt06240  Transcription (cancer)
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
  Element
N00132  Amplified MYCN to transcriptional repression
N00297  ACTH-cortisol signaling pathway
N00298  CYP11B1-CYP11B2 fusion to ACTH-cortisol signaling pathway
N00320  Mutation-activated PRKACA to ACTH-cortisol signaling pathway
N00321  Mutation-activated GNAS to ACTH-cortisol signaling pathway
N00322  Mutation-inactivated PRKAR1A to ACTH-cortisol signaling pathway
N00323  Mutation-inactivated PDE11A/PDE8B to ACTH-cortisol signaling pathway
Drug target
Terameprocol: D09014
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04350 TGF-beta signaling pathway
    6667 (SP1)
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    6667 (SP1)
 09150 Organismal Systems
  09152 Endocrine system
   04915 Estrogen signaling pathway
    6667 (SP1)
   04928 Parathyroid hormone synthesis, secretion and action
    6667 (SP1)
   04927 Cortisol synthesis and secretion
    6667 (SP1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    6667 (SP1)
   05202 Transcriptional misregulation in cancer
    6667 (SP1)
   05231 Choline metabolism in cancer
    6667 (SP1)
  09162 Cancer: specific types
   05224 Breast cancer
    6667 (SP1)
  09172 Infectious disease: viral
   05163 Human cytomegalovirus infection
    6667 (SP1)
  09164 Neurodegenerative disease
   05016 Huntington disease
    6667 (SP1)
   05017 Spinocerebellar ataxia
    6667 (SP1)
  09166 Cardiovascular disease
   05415 Diabetic cardiomyopathy
    6667 (SP1)
  09167 Endocrine and metabolic disease
   04934 Cushing syndrome
    6667 (SP1)
  09176 Drug resistance: antineoplastic
   01522 Endocrine resistance
    6667 (SP1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    6667 (SP1)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    6667 (SP1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys2His2 SP/KLF family and related proteins
    6667 (SP1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Regulator of mitochondrial biogenesis
   Ubiquitas transcription factors
    6667 (SP1)
SSDB
Motif
Pfam: zf-C2H2 zf-H2C2_2 zf-C2H2_4 Zap1_zf1 zf-C2H2_6 zf-C2H2_8
Other DBs
NCBI-GeneID: 6667
NCBI-ProteinID: NP_612482
OMIM: 189906
HGNC: 11205
Ensembl: ENSG00000185591
UniProt: P08047
Structure
LinkDB
Position
12:53380176..53416446
AA seq 785 aa
MSDQDHSMDEMTAVVKIEKGVGGNNGGNGNGGGAFSQARSSSTGSSSSTGGGGQESQPSP
LALLAATCSRIESPNENSNNSQGPSQSGGTGELDLTATQLSQGANGWQIISSSSGATPTS
KEQSGSSTNGSNGSESSKNRTVSGGQYVVAAAPNLQNQQVLTGLPGVMPNIQYQVIPQFQ
TVDGQQLQFAATGAQVQQDGSGQIQIIPGANQQIITNRGSGGNIIAAMPNLLQQAVPLQG
LANNVLSGQTQYVTNVPVALNGNITLLPVNSVSAATLTPSSQAVTISSSGSQESGSQPVT
SGTTISSASLVSSQASSSSFFTNANSYSTTTTTSNMGIMNFTTSGSSGTNSQGQTPQRVS
GLQGSDALNIQQNQTSGGSLQAGQQKEGEQNQQTQQQQILIQPQLVQGGQALQALQAAPL
SGQTFTTQAISQETLQNLQLQAVPNSGPIIIRTPTVGPNGQVSWQTLQLQNLQVQNPQAQ
TITLAPMQGVSLGQTSSSNTTLTPIASAASIPAGTVTVNAAQLSSMPGLQTINLSALGTS
GIQVHPIQGLPLAIANAPGDHGAQLGLHGAGGDGIHDDTAGGEEGENSPDAQPQAGRRTR
REACTCPYCKDSEGRGSGDPGKKKQHICHIQGCGKVYGKTSHLRAHLRWHTGERPFMCTW
SYCGKRFTRSDELQRHKRTHTGEKKFACPECPKRFMRSDHLSKHIKTHQNKKGGPGVALS
VGTLPLDSGAGSEGSGTATPSALITTNMVAMEAICPEGIARLANSGINVMQVADLQSINI
SGNGF
NT seq 2358 nt   +upstreamnt  +downstreamnt
atgagcgaccaagatcactccatggatgaaatgacagctgtggtgaaaattgaaaaagga
gttggtggcaataatgggggcaatggtaatggtggtggtgccttttcacaggctcgaagt
agcagcacaggcagtagcagcagcactggaggaggagggcaggagtcccagccatcccct
ttggctctgctggcagcaacttgcagcagaattgagtcacccaatgagaacagcaacaac
tcccagggcccgagtcagtcagggggaacaggtgagcttgacctcacagccacacaactt
tcacagggtgccaatggctggcagatcatctcttcctcctctggggctacccctacctca
aaggaacagagtggcagcagtaccaatggcagcaatggcagtgagtcttccaagaatcgc
acagtctctggtgggcagtatgttgtggctgccgctcccaacttacagaaccagcaagtt
ctgacaggactacctggagtgatgcctaatattcagtatcaagtaatcccacagttccag
accgttgatgggcaacagctgcagtttgctgccactggggcccaagtgcagcaggatggt
tctggtcaaatacagatcataccaggtgcaaaccaacagattatcacaaatcgaggaagt
ggaggcaacatcattgctgctatgccaaacctactccagcaggctgtccccctccaaggc
ctggctaataatgtactctcaggacagactcagtatgtgaccaatgtaccagtggccctg
aatgggaacatcaccttgctacctgtcaacagcgtttctgcagctaccttgactcccagc
tctcaggcagtcacgatcagcagctctgggtcccaggagagtggctcacagcctgtcacc
tcagggactaccatcagttctgccagcttggtatcatcacaagccagttccagctccttt
ttcaccaatgccaatagctactcaactactactaccaccagcaacatgggaattatgaac
tttactaccagtggatcatcagggaccaactctcaaggccagacaccccagagggtcagt
gggctacaggggtctgatgctctgaacatccagcaaaaccagacatctggaggctcattg
caagcaggccagcaaaaagaaggagagcaaaaccagcagacacagcagcaacaaattctt
atccagcctcagctagttcaagggggacaggccctccaggccctccaagcagcaccattg
tcagggcagacctttacaactcaagccatctcccaggaaaccctccagaacctccagctt
caggctgttccaaactctggtcccatcatcatccggacaccaacagtggggcccaatgga
caggtcagttggcagactctacagctgcagaacctccaagttcagaacccacaagcccaa
acaatcaccttagccccaatgcagggtgtttccttggggcagaccagcagcagcaacacc
actctcacacccattgcctcagctgcttccattcctgctggcacagtcactgtgaatgct
gctcaactctcctccatgccaggcctccagaccattaacctcagtgcattgggtacttca
ggaatccaggtgcacccaattcaaggcctgccgttggctatagcaaatgccccaggtgat
catggagctcagcttggtctccatggggctggtggtgatggaatacatgatgacacagca
ggtggagaggaaggagaaaacagcccagatgcccaaccccaagccggtcggaggacccgg
cgggaagcatgcacctgcccctactgtaaagacagtgaaggaaggggctcgggggatcct
ggcaaaaagaaacagcatatttgccacatccaaggctgtgggaaagtgtatggcaagacc
tctcacctgcgggcacacttgcgctggcatacaggcgagaggccatttatgtgtacctgg
tcatactgtgggaaacgcttcacacgttcggatgagctacagaggcacaaacgtacacac
acaggtgagaagaaatttgcctgccctgagtgtcctaagcgcttcatgaggagtgaccac
ctgtcaaaacatatcaagacccaccagaataagaagggaggcccaggtgtagctctgagt
gtgggcactttgcccctggacagtggggcaggttcagaaggcagtggcactgccactcct
tcagcccttattaccaccaatatggtagccatggaggccatctgtccagagggcattgcc
cgtcttgccaacagtggcatcaacgtcatgcaggtggcagatctgcagtccattaatatc
agtggcaatggcttctga

KEGG   Homo sapiens (human): 7709
Entry
7709              CDS       T01001                                 
Symbol
ZBTB17, MIZ-1, ZNF151, ZNF60, pHZ-67
Name
(RefSeq) zinc finger and BTB domain containing 17
  KO
K10500  zinc finger and BTB domain-containing protein 17
Organism
hsa  Homo sapiens (human)
Pathway
hsa04110  Cell cycle
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
  Element
N00088  Amplified MYC to p15-cell cycle G1/S
N00090  p15-Cell cycle G1/S
N00132  Amplified MYCN to transcriptional repression
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09143 Cell growth and death
   04110 Cell cycle
    7709 (ZBTB17)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    7709 (ZBTB17)
   05202 Transcriptional misregulation in cancer
    7709 (ZBTB17)
  09162 Cancer: specific types
   05222 Small cell lung cancer
    7709 (ZBTB17)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    7709 (ZBTB17)
   04121 Ubiquitin system [BR:hsa04121]
    7709 (ZBTB17)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys2His2 BTB-ZF factors
    7709 (ZBTB17)
Ubiquitin system [BR:hsa04121]
 Ubiquitin ligases (E3)
  Multi subunit Ring-finger type E3
   Cul3 complex
    Adoptor and target recognizing subunit (BTB)
     7709 (ZBTB17)
SSDB
Motif
Pfam: zf-H2C2_2 zf-C2H2 zf-C2H2_4 BTB zf-C2H2_jaz zf-C2H2_11 zf-met zf-C2H2_6 zf-C2HE TBPIP_C Zn-ribbon_8 zf-C2HC_2 zf_UBZ KLHL33-like_BTB_POZ zf-BED zf-Di19 zf-H2C2_5 Packaging_FI HypA
Other DBs
NCBI-GeneID: 7709
NCBI-ProteinID: NP_003434
OMIM: 604084
HGNC: 12936
Ensembl: ENSG00000116809
UniProt: Q13105
Structure
LinkDB
Position
1:complement(15941869..15976101)
AA seq 803 aa
MDFPQHSQHVLEQLNQQRQLGLLCDCTFVVDGVHFKAHKAVLAACSEYFKMLFVDQKDVV
HLDISNAAGLGQVLEFMYTAKLSLSPENVDDVLAVATFLQMQDIITACHALKSLAEPATS
PGGNAEALATEGGDKRAKEEKVATSTLSRLEQAGRSTPIGPSRDLKEERGGQAQSAASGA
EQTEKADAPREPPPVELKPDPTSGMAAAEAEAALSESSEQEMEVEPARKGEEEQKEQEEQ
EEEGAGPAEVKEEGSQLENGEAPEENENEESAGTDSGQELGSEARGLRSGTYGDRTESKA
YGSVIHKCEDCGKEFTHTGNFKRHIRIHTGEKPFSCRECSKAFSDPAACKAHEKTHSPLK
PYGCEECGKSYRLISLLNLHKKRHSGEARYRCEDCGKLFTTSGNLKRHQLVHSGEKPYQC
DYCGRSFSDPTSKMRHLETHDTDKEHKCPHCDKKFNQVGNLKAHLKIHIADGPLKCRECG
KQFTTSGNLKRHLRIHSGEKPYVCIHCQRQFADPGALQRHVRIHTGEKPCQCVMCGKAFT
QASSLIAHVRQHTGEKPYVCERCGKRFVQSSQLANHIRHHDNIRPHKCSVCSKAFVNVGD
LSKHIIIHTGEKPYLCDKCGRGFNRVDNLRSHVKTVHQGKAGIKILEPEEGSEVSVVTVD
DMVTLATEALAATAVTQLTVVPVGAAVTADETEVLKAEISKAVKQVQEEDPNTHILYACD
SCGDKFLDANSLAQHVRIHTAQALVMFQTDADFYQQYGPGGTWPAGQVLQAGELVFRPRD
GAEGQPALAETSPTAPECPPPAE
NT seq 2412 nt   +upstreamnt  +downstreamnt
atggactttccccagcacagccagcatgtcttggaacagctgaaccagcagcggcagctg
gggcttctctgtgactgcacctttgtggtggacggtgttcactttaaggctcataaagca
gtgctggcggcctgcagcgagtacttcaagatgctcttcgtggaccagaaggacgtggtg
cacctggacatcagtaacgcggcaggcctggggcaggtgctggagtttatgtacacggcc
aagctgagcctgagccctgagaacgtggatgatgtgctggccgtggccactttcctccaa
atgcaggacatcatcacggcctgccatgccctcaagtcacttgctgagccggctaccagc
cctgggggaaatgcggaggccttggccacagaaggaggggacaagagagccaaagaggag
aaggtggccaccagcacgctgagcaggctggagcaggcaggacgcagcacacccataggc
cccagcagggacctcaaggaggagcgcggcggtcaggcccagagtgcggccagcggtgca
gagcagacagagaaagccgatgcgccccgggagccgccgcctgtggagctcaagccagac
cccacgagtggcatggctgctgcagaagctgaggccgctttgtccgagagctcggagcaa
gaaatggaggtggagcccgcccggaaaggggaagaggagcaaaaggagcaagaggagcaa
gaggaggagggcgcagggccagctgaggtcaaggaggagggttcccagctggagaacgga
gaggcccccgaggagaacgagaatgaggagtcagcgggcacagactcggggcaggagctc
ggctccgaggcccggggcctgcgctcaggcacctacggcgaccgcacggagtccaaggcc
tacggctccgtcatccacaagtgcgaggactgtgggaaggagttcacgcacacggggaac
ttcaagcggcacatccgcatccacacgggggagaagcccttctcgtgccgggagtgcagc
aaggccttttccgacccggccgcgtgcaaggcccatgagaagacgcacagccctctgaag
ccctacggctgcgaggagtgcgggaagagctaccgcctcatcagcctgctgaacctgcac
aagaagcggcactcgggcgaggcgcgctaccgctgcgaggactgcggcaagctcttcacc
acctcgggcaacctcaagcgccaccagctggtgcacagcggcgagaagccctaccagtgc
gactactgcggccgctccttctccgaccccacttccaagatgcgccacctggagacccac
gacacggacaaggagcacaagtgcccacactgcgacaagaagttcaaccaggtagggaac
ctgaaggcccacctgaagatccacatcgctgacgggcccctcaagtgccgagagtgtggg
aagcagttcaccacctcagggaacctgaagcggcaccttcggatccacagcggggagaag
ccctacgtgtgcatccactgccagcgacagtttgcagaccccggcgctctgcagcggcac
gtccgcattcacacaggtgagaagccatgccagtgtgtgatgtgcggtaaggccttcacc
caggccagctccctcatcgcccacgtgcgccagcacaccggggagaagccctacgtctgc
gagcgctgcggcaagagattcgtccagtccagccagttggccaatcatattcgccaccac
gacaacatccgcccacacaagtgcagcgtgtgcagcaaggccttcgtgaacgtgggggac
ctgtccaagcacatcatcattcacactggagagaagccttacctgtgtgataagtgtggg
cgtggcttcaaccgggtagacaacctgcgctcccacgtgaagaccgtgcaccagggcaag
gcaggcatcaagatcctggagcccgaggagggcagtgaggtcagcgtggtcactgtggat
gacatggtcacgctggctaccgaggcactggcagcgacagccgtcactcagctcacagtg
gtgccggtgggagctgcagtgacagccgatgagacggaagtcctgaaggccgagatcagc
aaagctgtgaagcaagtgcaggaagaagaccccaacactcacatcctctacgcctgtgac
tcctgtggggacaagtttctggatgccaacagcctggctcagcatgtgcgaatccacaca
gcccaggcactggtcatgttccagacagacgcggacttctatcagcagtatgggccaggt
ggcacgtggcctgccgggcaggtgctgcaggctggggagctggtcttccgccctcgcgac
ggggctgagggccagcccgcactggcagagacctcccctacagctcctgaatgtcccccg
cctgccgagtga

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