Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4763

Name

NF1

Synonym

NFNS|VRNF|WSS;neurofibromin 1;NF1;neurofibromin 1

Definition

neurofibromatosis-related protein NF-1|neurofibromin

Position

17q11.2

Gene Type

protein-coding

TSG scores

Description

TUSON ranking

9

TUSON P-value

3.81E-59

Pathways and Diseases

Pathway

chromatin remodeling by hswi/snf atp-dependent complexes;PID BioCarta;100141

Pathway

MAPK signaling pathway;KEGG PATHWAY;hsa04010

Pathway

ATF-2 transcription factor network;PID Curated;200116

Pathway

EGF receptor signaling pathway;PANTHER;P00018

Pathway

FOXA2 and FOXA3 transcription factor networks;PID Curated;200073

Pathway

Syndecan-2-mediated signaling events;PID Curated;200164

Disease

Watson syndrome;OMIM

Disease

Bladder cancer;FunDO

Disease

Hemolytic-Uremic syndrome;FunDO

Disease

aberrant splicing;GAD

Disease

Leukemia, Myeloid, Acute;GAD

Disease

Neurofibromatosis;FunDO

Disease

intestinal neuronal dysplasia type B (IND B);GAD

Disease

Neurofibromatosis-Noonan syndrome;OMIM

Disease

Alopecia;FunDO

Disease

Leukemia, juvenile myelomonocytic;OMIM

Disease

Leukemia;FunDO

Disease

Dental enamel hypoplasia;FunDO

Disease

Intraocular melanoma;FunDO

Disease

Peripheral nerve sheath tumor;FunDO

Disease

PSYCH;GAD

Disease

Neurofibromatosis 1;GAD

Disease

CANCER;GAD

Disease

Brain tumor;FunDO

Disease

Gastrointestinal stromal tumor;FunDO

Disease

Mental retardation;FunDO

Disease

Bone disease;FunDO

Disease

Neurofibromatosis, type 1;OMIM

Disease

Congenital abnormality;FunDO

Disease

Melanoma, desmoplastic neurotrophic;OMIM

Disease

Autism;GAD

Disease

Neurofibromatosis, familial spinal;OMIM

External Links

Links to Entrez Gene

4763

Links to all GeneRIF Items

4763

Links to iHOP

4763

Sequence Information

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

Nucleotide Sequence

>4763 : length: 8457
atggccgcgcacaggccggtggaatgggtccaggccgtggtcagccgcttcgacgagcag
cttccaataaaaacaggacagcagaacacacataccaaagtcagtactgagcacaacaag
gaatgtctaatcaatatttccaaatacaagttttctttggttataagcggcctcactact
attttaaagaatgttaacaatatgagaatatttggagaagctgctgaaaaaaatttatat
ctctctcagttgattatattggatacactggaaaaatgtcttgctgggcaaccaaaggac
acaatgagattagatgaaacgatgctggtcaaacagttgctgccagaaatctgccatttt
cttcacacctgtcgtgaaggaaaccagcatgcagctgaacttcggaattctgcctctggg
gttttattttctctcagctgcaacaacttcaatgcagtctttagtcgcatttctaccagg
ttacaggaattaactgtttgttcagaagacaatgttgatgttcatgatatagaattgtta
cagtatatcaatgtggattgtgcaaaattaaaacgactcctgaaggaaacagcatttaaa
tttaaagccctaaagaaggttgcgcagttagcagttataaatagcctggaaaaggcattt
tggaactgggtagaaaattatccagatgaatttacaaaactgtaccagatcccacagact
gatatggctgaatgtgcagaaaagctatttgacttggtggatggttttgctgaaagcacc
aaacgtaaagcagcagtttggccactacaaatcattctccttatcttgtgtccagaaata
atccaggatatatccaaagacgtggttgatgaaaacaacatgaataagaagttatttctg
gacagtctacgaaaagctcttgctggccatggaggaagtaggcagctgacagaaagtgct
gcaattgcctgtgtcaaactgtgtaaagcaagtacttacatcaattgggaagataactct
gtcattttcctacttgttcagtccatggtggttgatcttaagaacctgctttttaatcca
agtaagccattctcaagaggcagtcagcctgcagatgtggatctaatgattgactgcctt
gtttcttgctttcgtataagccctcacaacaaccaacactttaagatctgcctggctcag
aattcaccttctacatttcactatgtgctggtaaattcactccatcgaatcatcaccaat
tccgcattggattggtggcctaagattgatgctgtgtattgtcactcggttgaacttcga
aatatgtttggtgaaacacttcataaagcagtgcaaggttgtggagcacacccagcaata
cgaatggcaccgagtcttacatttaaagaaaaagtaacaagccttaaatttaaagaaaaa
cctacagacctggagacaagaagctataagtatcttctcttgtccatggtgaaactaatt
catgcagatccaaagctcttgctttgtaatccaagaaaacaggggcccgaaacccaaggc
agtacagcagaattaattacagggctcgtccaactggtccctcagtcacacatgccagag
attgctcaggaagcaatggaggctctgctggttcttcatcagttagatagcattgatttg
tggaatcctgatgctcctgtagaaacattttgggagattagctcacaaatgcttttttac
atctgcaagaaattaactagtcatcaaatgcttagtagcacagaaattctcaagtggttg
cgggaaatattgatctgcaggaataaatttcttcttaaaaataagcaggcagatagaagt
tcctgtcactttctccttttttacggggtaggatgtgatattccttctagtggaaatacc
agtcaaatgtccatggatcatgaagaattactacgtactcctggagcctctctccggaag
ggaaaagggaactcctctatggatagtgcagcaggatgcagcggaacccccccgatttgc
cgacaagcccagaccaaactagaagtggccctgtacatgtttctgtggaaccctgacact
gaagctgttctggttgccatgtcctgtttccgccacctctgtgaggaagcagatatccgg
tgtggggtggatgaagtgtcagtgcataacctcttgcccaactataacacattcatggag
tttgcctctgtcagcaatatgatgtcaacaggaagagcagcacttcagaaaagagtgatg
gcactgctgaggcgcattgagcatcccactgcaggaaacactgaggcttgggaagataca
catgcaaaatgggaacaagcaacaaagctaatccttaactatccaaaagccaaaatggaa
gatggccaggctgctgaaagccttcacaagaccattgttaagaggcgaatgtcccatgtg
agtggaggaggatccatagatttgtctgacacagactccctacaggaatggatcaacatg
actggcttcctttgtgcccttgggggagtgtgcctccagcagagaagcaattctggcctg
gcaacctatagcccacccatgggtccagtcagtgaacgtaagggttctatgatttcagtg
atgtcttcagagggaaacgcagatacacctgtcagcaaatttatggatcggctgttgtcc
ttaatggtgtgtaaccatgagaaagtgggacttcaaatacggaccaatgttaaggatctg
gtgggtctagaattgagtcctgctctgtatccaatgctatttaacaaattgaagaatacc
atcagcaagttttttgactcccaaggacaggttttattgactgataccaatactcaattt
gtagaacaaaccatagctataatgaagaacttgctagataatcatactgaaggcagctct
gaacatctagggcaagctagcattgaaacaatgatgttaaatctggtcaggtatgttcgt
gtgcttgggaatatggtccatgcaattcaaataaaaacgaaactgtgtcaattagttgaa
gtaatgatggcaaggagagatgacctctcattttgccaagagatgaaatttaggaataag
atggtagaatacctgacagactgggttatgggaacatcaaaccaagcagcagatgatgat
gtaaaatgtcttacaagagatttggaccaggcaagcatggaagcagtagtttcacttcta
gctggtctccctctgcagcctgaagaaggagatggtgtggaattgatggaagccaaatca
cagttatttcttaaatacttcacattatttatgaaccttttgaatgactgcagtgaagtt
gaagatgaaagtgcgcaaacaggtggcaggaaacgtggcatgtctcggaggctggcatca
ctgaggcactgtacggtccttgcaatgtcaaacttactcaatgccaacgtagacagtggt
ctcatgcactccataggcttaggttaccacaaggatctccagacaagagctacatttatg
gaagttctgacaaaaatccttcaacaaggcacagaatttgacacacttgcagaaacagta
ttggctgatcggtttgagagattggtggaactggtcacaatgatgggtgatcaaggagaa
ctccctatagcgatggctctggccaatgtggttccttgttctcagtgggatgaactagct
cgagttctggttactctgtttgattctcggcatttactctaccaactgctctggaacatg
ttttctaaagaagtagaattggcagactccatgcagactctcttccgaggcaacagcttg
gccagtaaaataatgacattctgtttcaaggtatatggtgctacctatctacaaaaactc
ctggatcctttattacgaattgtgatcacatcctctgattggcaacatgttagctttgaa
gtggatcctaccaggttagaaccatcagagagccttgaggaaaaccagcggaacctcctt
cagatgactgaaaagttcttccatgccatcatcagttcctcctcagaattcccccctcaa
cttcgaagtgtgtgccactgtttataccaggtggttagccagcgtttccctcagaacagc
atcggtgcagtaggaagtgccatgttcctcagatttatcaatcctgccattgtctcaccg
tatgaagcagggattttagataaaaagccaccacctagaatcgaaaggggcttgaagtta
atgtcaaagatacttcagagtattgccaatcatgttctcttcacaaaagaagaacatatg
cggcctttcaatgattttgtgaaaagcaactttgatgcagcacgcaggtttttccttgat
atagcatctgattgtcctacaagtgatgcagtaaatcatagtctttccttcataagtgac
ggcaatgtgcttgctttacatcgtctactctggaacaatcaggagaaaattgggcagtat
ctttccagcaacagggatcataaagctgttggaagacgaccttttgataagatggcaaca
cttcttgcatacctgggtcctccagagcacaaacctgtggcagatacacactggtccagc
cttaaccttaccagttcaaagtttgaggaatttatgactaggcatcaggtacatgaaaaa
gaagaattcaaggctttgaaaacgttaagtattttctaccaagctgggacttccaaagct
gggaatcctattttttattatgttgcacggaggttcaaaactggtcaaatcaatggtgat
ttgctgatataccatgtcttactgactttaaagccatattatgcaaagccatatgaaatt
gtagtggaccttacccataccgggcctagcaatcgctttaaaacagactttctctctaag
tggtttgttgtttttcctggctttgcttacgacaacgtctccgcagtctatatctataac
tgtaactcctgggtcagggagtacaccaagtatcatgagcggctgctgactggcctcaaa
ggtagcaaaaggcttgttttcatagactgtcctgggaaactggctgagcacatagagcat
gaacaacagaaactacctgctgccaccttggctttagaagaggacctgaaggtattccac
aatgctctcaagctagctcacaaagacaccaaagtttctattaaagttggttctactgct
gtccaagtaacttcagcagagcgaacaaaagtcctagggcaatcagtctttctaaatgac
atttattatgcttcggaaattgaagaaatctgcctagtagatgagaaccagttcacctta
accattgcaaaccagggcacgccgctcaccttcatgcaccaggagtgtgaagccattgtc
cagtctatcattcatatccggacccgctgggaactgtcacagcccgactctatcccccaa
cacaccaagattcggccaaaagatgtccctgggacactgctcaatatcgcattacttaat
ttaggcagttctgacccgagtttacggtcagctgcctataatcttctgtgtgccttaact
tgtacctttaatttaaaaatcgagggccagttactagagacatcaggtttatgtatccct
gccaacaacaccctctttattgtctctattagtaagacactggcagccaatgagccacac
ctcacgttagaatttttggaagagtgtatttctggatttagcaaatctagtattgaattg
aaacacctttgtttggaatacatgactccatggctgtcaaatctagttcgtttttgcaag
cataatgatgatgccaaacgacaaagagttactgctattcttgacaagctgataacaatg
accatcaatgaaaaacagatgtacccatctattcaagcaaaaatatggggaagccttggg
cagattacagatctgcttgatgttgtactagacagtttcatcaaaaccagtgcaacaggt
ggcttgggatcaataaaagctgaggtgatggcagatactgctgtagctttggcttctgga
aatgtgaaattggtttcaagcaaggttattggaaggatgtgcaaaataattgacaagaca
tgcttatctccaactcctactttagaacaacatcttatgtgggatgatattgctatttta
gcacgctacatgctgatgctgtccttcaacaattcccttgatgtggcagctcatcttccc
tacctcttccacgttgttactttcttagtagccacaggtccgctctcccttagagcttcc
acacatggactggtcattaatatcattcactctctgtgtacttgttcacagcttcatttt
agtgaagagaccaagcaagttttgagactcagtctgacagagttctcattacccaaattt
tacttgctgtttggcattagcaaagtcaagtcagctgctgtcattgccttccgttccagt
taccgggacaggtcattctctcctggctcctatgagagagagacttttgctttgacatcc
ttggaaacagtcacagaagctttgttggagatcatggaggcatgcatgagagatattcca
acgtgcaagtggctggaccagtggacagaactagctcaaagatttgcattccaatataat
ccatccctgcaaccaagagctcttgttgtctttgggtgtattagcaaacgagtgtctcat
gggcagataaagcagataatccgtattcttagcaaggcacttgagagttgcttaaaagga
cctgacacttacaacagtcaagttctgatagaagctacagtaatagcactaaccaaatta
cagccacttcttaataaggactcgcctctgcacaaagccctcttttgggtagctgtggct
gtgctgcagcttgatgaggtcaacttgtattcagcaggtaccgcacttcttgaacaaaac
ctgcatactttagatagtctccgtatattcaatgacaagagtccagaggaagtatttatg
gcaatccggaatcctctggagtggcactgcaagcaaatggatcattttgttggactcaat
ttcaactctaactttaactttgcattggttggacaccttttaaaagggtacaggcatcct
tcacctgctattgttgcaagaacagtcagaattttacatacactactaactctggttaac
aaacacagaaattgtgacaaatttgaagtgaatacacagagcgtggcctacttagcagct
ttacttacagtgtctgaagaagttcgaagtcgctgcagcctaaaacatagaaagtcactt
cttcttactgatatttcaatggaaaatgttcctatggatacatatcccattcatcatggt
gacccttcctataggacactaaaggagactcagccatggtcctctcccaaaggttctgaa
ggataccttgcagccacctatccaactgtcggccagaccagtccccgagccaggaaatcc
atgagcctggacatggggcaaccttctcaggccaacactaagaagttgcttggaacaagg
aaaagttttgatcacttgatatcagacacaaaggctcctaaaaggcaagaaatggaatca
gggatcacaacaccccccaaaatgaggagagtagcagaaactgattatgaaatggaaact
cagaggatttcctcatcacaacagcacccacatttacgtaaagtttcagtgtctgaatca
aatgttctcttggatgaagaagtacttactgatccgaagatccaggcgctgcttcttact
gttctagctacactggtaaaatataccacagatgagtttgatcaacgaattctttatgaa
tacttagcagaggccagtgttgtgtttcccaaagtctttcctgttgtgcataatttgttg
gactctaagatcaacaccctgttatcattgtgccaagatccaaatttgttaaatccaatc
catggaattgtgcagagtgtggtgtaccatgaagaatccccaccacaataccaaacatct
tacctgcaaagttttggttttaatggcttgtggcggtttgcaggaccgttttcaaagcaa
acacaaattccagactatgctgagcttattgttaagtttcttgatgccttgattgacacg
tacctgcctggaattgatgaagaaaccagtgaagaatccctcctgactcccacatctcct
taccctcctgcactgcagagccagcttagtatcactgccaaccttaacctttctaattcc
atgacctcacttgcaacttcccagcattccccaggaatcgacaaggagaacgttgaactc
tcccctaccactggccactgtaacagtggacgaactcgccacggatccgcaagccaagtg
cagaagcaaagaagcgctggcagtttcaaacgtaatagcattaagaagatcgtgtga

Protein Sequence

>4763 : length: 2818
MAAHRPVEWVQAVVSRFDEQLPIKTGQQNTHTKVSTEHNKECLINISKYKFSLVISGLTT
ILKNVNNMRIFGEAAEKNLYLSQLIILDTLEKCLAGQPKDTMRLDETMLVKQLLPEICHF
LHTCREGNQHAAELRNSASGVLFSLSCNNFNAVFSRISTRLQELTVCSEDNVDVHDIELL
QYINVDCAKLKRLLKETAFKFKALKKVAQLAVINSLEKAFWNWVENYPDEFTKLYQIPQT
DMAECAEKLFDLVDGFAESTKRKAAVWPLQIILLILCPEIIQDISKDVVDENNMNKKLFL
DSLRKALAGHGGSRQLTESAAIACVKLCKASTYINWEDNSVIFLLVQSMVVDLKNLLFNP
SKPFSRGSQPADVDLMIDCLVSCFRISPHNNQHFKICLAQNSPSTFHYVLVNSLHRIITN
SALDWWPKIDAVYCHSVELRNMFGETLHKAVQGCGAHPAIRMAPSLTFKEKVTSLKFKEK
PTDLETRSYKYLLLSMVKLIHADPKLLLCNPRKQGPETQGSTAELITGLVQLVPQSHMPE
IAQEAMEALLVLHQLDSIDLWNPDAPVETFWEISSQMLFYICKKLTSHQMLSSTEILKWL
REILICRNKFLLKNKQADRSSCHFLLFYGVGCDIPSSGNTSQMSMDHEELLRTPGASLRK
GKGNSSMDSAAGCSGTPPICRQAQTKLEVALYMFLWNPDTEAVLVAMSCFRHLCEEADIR
CGVDEVSVHNLLPNYNTFMEFASVSNMMSTGRAALQKRVMALLRRIEHPTAGNTEAWEDT
HAKWEQATKLILNYPKAKMEDGQAAESLHKTIVKRRMSHVSGGGSIDLSDTDSLQEWINM
TGFLCALGGVCLQQRSNSGLATYSPPMGPVSERKGSMISVMSSEGNADTPVSKFMDRLLS
LMVCNHEKVGLQIRTNVKDLVGLELSPALYPMLFNKLKNTISKFFDSQGQVLLTDTNTQF
VEQTIAIMKNLLDNHTEGSSEHLGQASIETMMLNLVRYVRVLGNMVHAIQIKTKLCQLVE
VMMARRDDLSFCQEMKFRNKMVEYLTDWVMGTSNQAADDDVKCLTRDLDQASMEAVVSLL
AGLPLQPEEGDGVELMEAKSQLFLKYFTLFMNLLNDCSEVEDESAQTGGRKRGMSRRLAS
LRHCTVLAMSNLLNANVDSGLMHSIGLGYHKDLQTRATFMEVLTKILQQGTEFDTLAETV
LADRFERLVELVTMMGDQGELPIAMALANVVPCSQWDELARVLVTLFDSRHLLYQLLWNM
FSKEVELADSMQTLFRGNSLASKIMTFCFKVYGATYLQKLLDPLLRIVITSSDWQHVSFE
VDPTRLEPSESLEENQRNLLQMTEKFFHAIISSSSEFPPQLRSVCHCLYQVVSQRFPQNS
IGAVGSAMFLRFINPAIVSPYEAGILDKKPPPRIERGLKLMSKILQSIANHVLFTKEEHM
RPFNDFVKSNFDAARRFFLDIASDCPTSDAVNHSLSFISDGNVLALHRLLWNNQEKIGQY
LSSNRDHKAVGRRPFDKMATLLAYLGPPEHKPVADTHWSSLNLTSSKFEEFMTRHQVHEK
EEFKALKTLSIFYQAGTSKAGNPIFYYVARRFKTGQINGDLLIYHVLLTLKPYYAKPYEI
VVDLTHTGPSNRFKTDFLSKWFVVFPGFAYDNVSAVYIYNCNSWVREYTKYHERLLTGLK
GSKRLVFIDCPGKLAEHIEHEQQKLPAATLALEEDLKVFHNALKLAHKDTKVSIKVGSTA
VQVTSAERTKVLGQSVFLNDIYYASEIEEICLVDENQFTLTIANQGTPLTFMHQECEAIV
QSIIHIRTRWELSQPDSIPQHTKIRPKDVPGTLLNIALLNLGSSDPSLRSAAYNLLCALT
CTFNLKIEGQLLETSGLCIPANNTLFIVSISKTLAANEPHLTLEFLEECISGFSKSSIEL
KHLCLEYMTPWLSNLVRFCKHNDDAKRQRVTAILDKLITMTINEKQMYPSIQAKIWGSLG
QITDLLDVVLDSFIKTSATGGLGSIKAEVMADTAVALASGNVKLVSSKVIGRMCKIIDKT
CLSPTPTLEQHLMWDDIAILARYMLMLSFNNSLDVAAHLPYLFHVVTFLVATGPLSLRAS
THGLVINIIHSLCTCSQLHFSEETKQVLRLSLTEFSLPKFYLLFGISKVKSAAVIAFRSS
YRDRSFSPGSYERETFALTSLETVTEALLEIMEACMRDIPTCKWLDQWTELAQRFAFQYN
PSLQPRALVVFGCISKRVSHGQIKQIIRILSKALESCLKGPDTYNSQVLIEATVIALTKL
QPLLNKDSPLHKALFWVAVAVLQLDEVNLYSAGTALLEQNLHTLDSLRIFNDKSPEEVFM
AIRNPLEWHCKQMDHFVGLNFNSNFNFALVGHLLKGYRHPSPAIVARTVRILHTLLTLVN
KHRNCDKFEVNTQSVAYLAALLTVSEEVRSRCSLKHRKSLLLTDISMENVPMDTYPIHHG
DPSYRTLKETQPWSSPKGSEGYLAATYPTVGQTSPRARKSMSLDMGQPSQANTKKLLGTR
KSFDHLISDTKAPKRQEMESGITTPPKMRRVAETDYEMETQRISSSQQHPHLRKVSVSES
NVLLDEEVLTDPKIQALLLTVLATLVKYTTDEFDQRILYEYLAEASVVFPKVFPVVHNLL
DSKINTLLSLCQDPNLLNPIHGIVQSVVYHEESPPQYQTSYLQSFGFNGLWRFAGPFSKQ
TQIPDYAELIVKFLDALIDTYLPGIDEETSEESLLTPTSPYPPALQSQLSITANLNLSNS
MTSLATSQHSPGIDKENVELSPTTGHCNSGRTRHGSASQVQKQRSAGSFKRNSIKKIV



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