Property Summary

NCBI Gene PubMed Count 23
PubMed Score 332.05
PubTator Score 17.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ovarian cancer 8492 2.38065949495449E-18
non-small cell lung cancer 2798 6.99899442082278E-11
juvenile dermatomyositis 1189 1.47976041201273E-6
acute quadriplegic myopathy 1157 2.13744299813782E-6
group 4 medulloblastoma 1875 2.30632327309647E-6
malignant mesothelioma 3163 9.58307605234956E-6
atypical teratoid / rhabdoid tumor 4369 4.13554899084675E-5
osteosarcoma 7933 5.13950698072778E-5
primary pancreatic ductal adenocarcinoma 1271 1.14460560157826E-4
medulloblastoma, large-cell 6234 2.56377761529739E-4
oligodendroglioma 2849 9.36515109980361E-4
ependymoma 2514 0.00132486694647667
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00194248790584146
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00226691233299779
glioblastoma 5572 0.00253336366988229
astrocytic glioma 2241 0.00633531933476032
pediatric high grade glioma 2712 0.00833744746702463
lung cancer 4473 0.0108038078675139
pancreatic cancer 2300 0.0153439544721328
aldosterone-producing adenoma 664 0.0182843862171556
Breast cancer 3099 0.0382297880111965
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Cancer 2346 0.0 4.0
Obesity 616 0.0 4.0
Disease Target Count Z-score Confidence
Posterior polar cataract 2 3.592 1.8
Leukemia 88 3.385 1.7
Disease Target Count
CHOPS syndrome 1

Expression

Synonym

Accession Q9UHB7 B2RP19 B7WPD2 Q498B2 Q59FB3 Q6P592 Q8TDR1 Q9P0E4
Symbols MCEF
CHOPS
AF5Q31

Gene

PANTHER Protein Class (1)

PDB

4IMY   4OGR   4OR5  

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum EggNOG Inparanoid
Platypus OMA EggNOG
Xenopus OMA Inparanoid

Gene RIF (27)

PMID Text
26007649 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
25730767 missense mutations in AFF4 in three unrelated probands with a new syndrome that phenotypically overlaps Cornelia de Lange syndrome (CdLS) that was named CHOPS syndrome (C for cognitive impairment and coarse facies, H for heart defects, O for obesity, P for pulmonary involvement and S for short stature and skeletal dysplasia)
24843025 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
24727379 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
24565118 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
24367103 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
24158816 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
23518577 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
23471103 AFF4 is positioned to make unexpected direct contacts with HIV Tat, and Tat enhances P-TEFb/CCNT1 affinity for AFF4.
23471103 HIV-1 Tat transactivation is mediated by the AFF4- super elongation complex but does so less than the AFF4-super elongation complex due to a single amino acid that causes a change in affinity of Tat for cyclin T1
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AA Sequence

MNREDRNVLRMKERERRNQEIQQGEDAFPPSSPLFAEPYKVTSKEDKLSSRIQSMLGNYDEMKDFIGDRS      1 - 70
IPKLVAIPKPTVPPSADEKSNPNFFEQRHGGSHQSSKWTPVGPAPSTSQSQKRSSGLQSGHSSQRTSAGS     71 - 140
SSGTNSSGQRHDRESYNNSGSSSRKKGQHGSEHSKSRSSSPGKPQAVSSLNSSHSRSHGNDHHSKEHQRS    141 - 210
KSPRDPDANWDSPSRVPFSSGQHSTQSFPPSLMSKSNSMLQKPTAYVRPMDGQESMEPKLSSEHYSSQSH    211 - 280
GNSMTELKPSSKAHLTKLKIPSQPLDASASGDVSCVDEILKEMTHSWPPPLTAIHTPCKTEPSKFPFPTK    281 - 350
ESQQSNFGTGEQKRYNPSKTSNGHQSKSMLKDDLKLSSSEDSDGEQDCDKTMPRSTPGSNSEPSHHNSEG    351 - 420
ADNSRDDSSSHSGSESSSGSDSESESSSSDSEANEPSQSASPEPEPPPTNKWQLDNWLNKVNPHKVSPAS    421 - 490
SVDSNIPSSQGYKKEGREQGTGNSYTDTSGPKETSSATPGRDSKTIQKGSESGRGRQKSPAQSDSTTQRR    491 - 560
TVGKKQPKKAEKAAAEEPRGGLKIESETPVDLASSMPSSRHKAATKGSRKPNIKKESKSSPRPTAEKKKY    561 - 630
KSTSKSSQKSREIIETDTSSSDSDESESLPPSSQTPKYPESNRTPVKPSSVEEEDSFFRQRMFSPMEEKE    631 - 700
LLSPLSEPDDRYPLIVKIDLNLLTRIPGKPYKETEPPKGEKKNVPEKHTREAQKQASEKVSNKGKRKHKN    701 - 770
EDDNRASESKKPKTEDKNSAGHKPSSNRESSKQSAAKEKDLLPSPAGPVPSKDPKTEHGSRKRTISQSSS    771 - 840
LKSSSNSNKETSGSSKNSSSTSKQKKTEGKTSSSSKEVKEKAPSSSSNCPPSAPTLDSSKPRRTKLVFDD    841 - 910
RNYSADHYLQEAKKLKHNADALSDRFEKAVYYLDAVVSFIECGNALEKNAQESKSPFPMYSETVDLIKYT    911 - 980
MKLKNYLAPDATAADKRLTVLCLRCESLLYLRLFKLKKENALKYSKTLTEHLKNSYNNSQAPSPGLGSKA    981 - 1050
VGMPSPVSPKLSPGNSGNYSSGASSASASGSSVTIPQKIHQMAASYVQVTSNFLYATEIWDQAEQLSKEQ   1051 - 1120
KEFFAELDKVMGPLIFNASIMTDLVRYTRQGLHWLRQDAKLIS                              1121 - 1163
//

Text Mined References (41)

PMID Year Title
25730767 2015 Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
25416956 2014 A proteome-scale map of the human interactome network.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23471103 2013 The AFF4 scaffold binds human P-TEFb adjacent to HIV Tat.
23251033 2013 HIV-1 Tat recruits transcription elongation factors dispersed along a flexible AFF4 scaffold.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22895430 2012 The super elongation complex (SEC) family in transcriptional control.
22483617 2012 The ubiquitin ligase Siah1 controls ELL2 stability and formation of super elongation complexes to modulate gene transcription.
22195968 2011 The little elongation complex regulates small nuclear RNA transcription.
22190034 2011 Global landscape of HIV-human protein complexes.
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