UBTF (upstream binding transcription factor) - Rat Genome Database

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Pathways
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Gene: UBTF (upstream binding transcription factor) Homo sapiens
Analyze
Symbol: UBTF
Name: upstream binding transcription factor
RGD ID: 734082
HGNC Page HGNC:12511
Description: Enables several functions, including RNA polymerase I general transcription initiation factor activity; RNA polymerase I transcription regulatory region sequence-specific DNA binding activity; and scaffold protein binding activity. Involved in transcription initiation at RNA polymerase I promoter. Located in fibrillar center. Implicated in childhood-onset neurodegeneration with brain atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 90-kDa nucleolus organizer region autoantigen; autoantigen NOR-90; CONDBA; NOR-90; nucleolar transcription factor 1; transcription factor ubf; UBF; UBF-1; UBF1; UBF2; upstream binding transcription factor, RNA polymerase I; upstream-binding factor 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: UBTFL11   UBTFL2   UBTFL7   UBTFL8   UBTFL9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,205,040 - 44,221,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,205,033 - 44,221,626 (-)EnsemblGRCh38hg38GRCh38
GRCh371742,282,408 - 42,298,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,637,927 - 39,653,776 (-)NCBINCBI36Build 36hg18NCBI36
Build 341739,639,487 - 39,651,190NCBI
Celera1738,991,137 - 39,006,972 (-)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1738,046,143 - 38,062,692 (-)NCBIHuRef
CHM1_11742,517,584 - 42,534,295 (-)NCBICHM1_1
T2T-CHM13v2.01745,058,143 - 45,074,402 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
fibrillar center  (IDA,IEA,ISO)
intracellular organelle  (IEA)
nucleolus  (IDA,IEA,ISS)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cardiac hypertrophy in vivo is associated with increased expression of the ribosomal gene transcription factor UBF. Brandenburger Y, etal., FEBS Lett. 2003 Jul 31;548(1-3):79-84.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. TFIIB-related factors in RNA polymerase I transcription. Knutson BA and Hahn S, Biochim Biophys Acta. 2013 Mar-Apr;1829(3-4):265-73. doi: 10.1016/j.bbagrm.2012.08.003. Epub 2012 Aug 30.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RNA polymerase I activity is regulated at multiple steps in the transcription cycle: recent insights into factors that influence transcription elongation. Schneider DA Gene. 2012 Feb 10;493(2):176-84. doi: 10.1016/j.gene.2011.08.006. Epub 2011 Aug 26.
6. Inhibition of transcription by platinum antitumor compounds. Todd RC and Lippard SJ, Metallomics. 2009;1(4):280-91. doi: 10.1039/b907567d.
Additional References at PubMed
PMID:1940801   PMID:2014238   PMID:2330041   PMID:3413483   PMID:7651819   PMID:7877691   PMID:8552083   PMID:8641287   PMID:8702533   PMID:9126496   PMID:9426281   PMID:9582279  
PMID:10202152   PMID:10329630   PMID:10913176   PMID:11042686   PMID:11075946   PMID:11106745   PMID:11250903   PMID:11592397   PMID:11698641   PMID:11741541   PMID:11790298   PMID:11916260  
PMID:11969401   PMID:12393749   PMID:12477932   PMID:12498690   PMID:12499368   PMID:12554758   PMID:12590579   PMID:12646563   PMID:12748295   PMID:15016909   PMID:15226435   PMID:15249688  
PMID:15282543   PMID:15342556   PMID:15489334   PMID:15598984   PMID:15635413   PMID:15723054   PMID:15752694   PMID:15761153   PMID:15924431   PMID:15970593   PMID:15975576   PMID:16169070  
PMID:16186106   PMID:16777843   PMID:16809778   PMID:16858408   PMID:16924243   PMID:17251981   PMID:17260958   PMID:17318177   PMID:17332342   PMID:17505112   PMID:17699751   PMID:18029348  
PMID:18502146   PMID:19088274   PMID:19174463   PMID:19274049   PMID:19393134   PMID:19452555   PMID:19454010   PMID:19490893   PMID:19527688   PMID:20075868   PMID:20160071   PMID:20195357  
PMID:20197409   PMID:20208542   PMID:20713446   PMID:21150319   PMID:21162312   PMID:21177859   PMID:21182205   PMID:21546905   PMID:21555454   PMID:21668587   PMID:21873635   PMID:21930779  
PMID:22147730   PMID:22368283   PMID:22393235   PMID:22586326   PMID:22681889   PMID:22939629   PMID:22952844   PMID:23203802   PMID:23591814   PMID:23667505   PMID:23972994   PMID:24124579  
PMID:24207024   PMID:24457600   PMID:24583282   PMID:24711643   PMID:24798431   PMID:24999758   PMID:25452314   PMID:25693804   PMID:25829491   PMID:25890091   PMID:25921289   PMID:25948554  
PMID:25965800   PMID:26089203   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26511642   PMID:26618866   PMID:26693507   PMID:26867678   PMID:27172002   PMID:27530925   PMID:27589844  
PMID:27634302   PMID:27729611   PMID:27880917   PMID:27926873   PMID:28077445   PMID:28218735   PMID:28400511   PMID:28514442   PMID:28777933   PMID:28874518   PMID:28977666   PMID:29104064  
PMID:29117863   PMID:29300972   PMID:29395067   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29511261   PMID:29845934   PMID:29893852   PMID:30021884   PMID:30196744   PMID:30415952  
PMID:30471916   PMID:30535232   PMID:30554943   PMID:30804502   PMID:30824926   PMID:30833792   PMID:30940648   PMID:30948266   PMID:31048545   PMID:31059266   PMID:31217076   PMID:31239290  
PMID:31586073   PMID:32350115   PMID:32416067   PMID:32466590   PMID:32694731   PMID:32707033   PMID:32744500   PMID:32780723   PMID:32807901   PMID:32838362   PMID:33024031   PMID:33226137  
PMID:33301849   PMID:33644029   PMID:33658012   PMID:33741433   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34091597   PMID:34189442   PMID:34244565   PMID:34349018  
PMID:34373451   PMID:34578187   PMID:34650049   PMID:34709727   PMID:34732716   PMID:35013218   PMID:35140242   PMID:35192684   PMID:35255831   PMID:35271311   PMID:35316324   PMID:35337019  
PMID:35338135   PMID:35785414   PMID:35819319   PMID:35850772   PMID:35944360   PMID:36057605   PMID:36089195   PMID:36199071   PMID:36215168   PMID:36243803   PMID:36271492   PMID:36273042  
PMID:36373674   PMID:36424410   PMID:36448876   PMID:36526897   PMID:36574265   PMID:36597993   PMID:36774506   PMID:36779763   PMID:37071664   PMID:37085611   PMID:37236968   PMID:37603967  
PMID:37616343   PMID:37689310   PMID:37827155   PMID:38172120  


Genomics

Comparative Map Data
UBTF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381744,205,040 - 44,221,304 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1744,205,033 - 44,221,626 (-)EnsemblGRCh38hg38GRCh38
GRCh371742,282,408 - 42,298,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361739,637,927 - 39,653,776 (-)NCBINCBI36Build 36hg18NCBI36
Build 341739,639,487 - 39,651,190NCBI
Celera1738,991,137 - 39,006,972 (-)NCBICelera
Cytogenetic Map17q21.31NCBI
HuRef1738,046,143 - 38,062,692 (-)NCBIHuRef
CHM1_11742,517,584 - 42,534,295 (-)NCBICHM1_1
T2T-CHM13v2.01745,058,143 - 45,074,402 (-)NCBIT2T-CHM13v2.0
Ubtf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911102,195,393 - 102,214,738 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11102,195,386 - 102,210,568 (-)EnsemblGRCm39 Ensembl
GRCm3811102,304,560 - 102,323,649 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11102,304,560 - 102,319,742 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711102,165,874 - 102,180,410 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611102,122,081 - 102,132,564 (-)NCBIMGSCv36mm8
Celera11114,011,670 - 114,026,179 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1166.29NCBI
Ubtf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81087,758,346 - 87,775,377 (-)NCBIGRCr8
mRatBN7.21087,258,217 - 87,274,291 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1087,258,217 - 87,272,969 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1092,288,071 - 92,302,797 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01091,759,767 - 91,774,430 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01087,153,085 - 87,167,748 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01090,250,275 - 90,265,772 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1090,250,275 - 90,265,017 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01090,036,613 - 90,051,685 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41091,385,368 - 91,398,458 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11091,400,434 - 91,410,657 (-)NCBI
Celera1085,973,415 - 86,009,030 (-)NCBICelera
Cytogenetic Map10q32.1NCBI
Ubtf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545117,294,251 - 17,302,746 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545117,294,163 - 17,302,807 (-)NCBIChiLan1.0ChiLan1.0
UBTF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21920,685,911 - 20,702,028 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11722,651,266 - 22,666,377 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01713,176,228 - 13,191,283 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11713,343,349 - 13,356,836 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1713,343,349 - 13,356,836 (+)Ensemblpanpan1.1panPan2
UBTF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1919,177,778 - 19,189,805 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl919,179,174 - 19,189,181 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha918,565,897 - 18,580,760 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0919,870,605 - 19,885,473 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl919,870,765 - 19,887,013 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1918,724,292 - 18,739,147 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0918,907,547 - 18,922,382 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0919,051,984 - 19,066,857 (+)NCBIUU_Cfam_GSD_1.0
Ubtf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560218,507,113 - 18,523,420 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936541671,157 - 684,240 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936541671,178 - 687,485 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBTF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1218,989,836 - 19,006,129 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11218,989,833 - 19,006,145 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21219,292,305 - 19,302,395 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UBTF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11662,168,288 - 62,184,902 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1662,171,666 - 62,182,320 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607732,937,552 - 32,954,106 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ubtf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624795768,697 - 780,639 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624795768,627 - 779,174 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UBTF
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014233.4(UBTF):c.1047+1G>A single nucleotide variant not provided [RCV000518929] Chr17:44211605 [GRCh38]
Chr17:42288973 [GRCh37]
Chr17:17q21.31		 likely pathogenic
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31		 pathogenic
GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1 copy number loss See cases [RCV000053429] Chr17:43570878..44762377 [GRCh38]
Chr17:41648246..42839745 [GRCh37]
Chr17:39003772..40195271 [NCBI36]
Chr17:17q21.31		 pathogenic
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr) single nucleotide variant not provided [RCV000087180] Chr17:44207459 [GRCh38]
Chr17:42284827 [GRCh37]
Chr17:17q21.31		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1 copy number loss See cases [RCV000134949] Chr17:43934167..44854025 [GRCh38]
Chr17:42011535..42931393 [GRCh37]
Chr17:39367061..40286919 [NCBI36]
Chr17:17q21.31		 pathogenic
NM_014233.4(UBTF):c.2014C>T (p.Gln672Ter) single nucleotide variant not provided [RCV000598806] Chr17:44207710 [GRCh38]
Chr17:42285078 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV000505522]|Inborn genetic diseases [RCV001265907]|Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability [RCV000625527]|Rare syndromic intellectual disability [RCV001195293]|See cases [RCV001420236]|UBTF E210K Neuroregression Syndrome [RCV000504592]|UBTF-Related Disorder [RCV000845031]|not provided [RCV001566123] Chr17:44212851 [GRCh38]
Chr17:42290219 [GRCh37]
Chr17:17q21.31		 pathogenic|likely pathogenic|uncertain significance|not provided
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.31(chr17:42245241-42332803)x1 copy number loss not provided [RCV000739522] Chr17:42245241..42332803 [GRCh37]
Chr17:17q21.31		 benign
GRCh37/hg19 17q21.31(chr17:42287836-42298790)x1 copy number loss not provided [RCV000739526] Chr17:42287836..42298790 [GRCh37]
Chr17:17q21.31		 benign
GRCh37/hg19 17q21.31(chr17:42296396-42298201)x1 copy number loss not provided [RCV000739527] Chr17:42296396..42298201 [GRCh37]
Chr17:17q21.31		 benign
GRCh37/hg19 17q21.31(chr17:42296594-42297573)x4 copy number gain not provided [RCV000739528] Chr17:42296594..42297573 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1359+32A>C single nucleotide variant not provided [RCV001666204] Chr17:44210760 [GRCh38]
Chr17:42288128 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.924C>G (p.Tyr308Ter) single nucleotide variant not provided [RCV000760855] Chr17:44211729 [GRCh38]
Chr17:42289097 [GRCh37]
Chr17:17q21.31		 likely pathogenic
NM_014233.4(UBTF):c.1906-182del deletion not provided [RCV001666014] Chr17:44208093 [GRCh38]
Chr17:42285461 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.2121C>T (p.Gly707=) single nucleotide variant not provided [RCV000961083] Chr17:44207502 [GRCh38]
Chr17:42284870 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.59-126C>G single nucleotide variant not provided [RCV001695029] Chr17:44216830 [GRCh38]
Chr17:42294198 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1086C>T (p.Leu362=) single nucleotide variant UBTF-related condition [RCV003975927]|not provided [RCV001685808] Chr17:44211293 [GRCh38]
Chr17:42288661 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1906-191_1906-182del deletion not provided [RCV001614073] Chr17:44208093..44208102 [GRCh38]
Chr17:42285461..42285470 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1599G>A (p.Lys533=) single nucleotide variant not provided [RCV001595520] Chr17:44210151 [GRCh38]
Chr17:42287519 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1906-192_1906-182del deletion not provided [RCV001714981] Chr17:44208093..44208103 [GRCh38]
Chr17:42285461..42285471 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.-67-1G>C single nucleotide variant not provided [RCV002464909] Chr17:44218297 [GRCh38]
Chr17:42295665 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.905+27C>T single nucleotide variant not provided [RCV001620008] Chr17:44211846 [GRCh38]
Chr17:42289214 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.660+172C>T single nucleotide variant not provided [RCV001620628] Chr17:44212647 [GRCh38]
Chr17:42290015 [GRCh37]
Chr17:17q21.31		 benign
NC_000017.11:g.(?_44027807)_(44352876_?)dup duplication GRN-related frontotemporal lobar degeneration with Tdp43 inclusions [RCV001032594] Chr17:42105175..42430244 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.235-26C>G single nucleotide variant not provided [RCV001610992] Chr17:44216015 [GRCh38]
Chr17:42293383 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.*141del deletion not provided [RCV001670952] Chr17:44207101 [GRCh38]
Chr17:42284469 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1905+168dup duplication not provided [RCV001650251] Chr17:44209173..44209174 [GRCh38]
Chr17:42286541..42286542 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.318+29G>A single nucleotide variant not provided [RCV001695303] Chr17:44215877 [GRCh38]
Chr17:42293245 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.59-143C>T single nucleotide variant not provided [RCV001612432] Chr17:44216847 [GRCh38]
Chr17:42294215 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.-67-161G>C single nucleotide variant not provided [RCV001612536] Chr17:44218457 [GRCh38]
Chr17:42295825 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.2213A>G (p.Asp738Gly) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV001199145] Chr17:44207324 [GRCh38]
Chr17:42284692 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1871A>G (p.Lys624Arg) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV001262398] Chr17:44209386 [GRCh38]
Chr17:42286754 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.475-129G>A single nucleotide variant not provided [RCV001688634] Chr17:44213411 [GRCh38]
Chr17:42290779 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1375_1380delinsT (p.Arg459fs) indel Neurodevelopmental disorder [RCV001780043] Chr17:44210453..44210458 [GRCh38]
Chr17:42287821..42287826 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1387C>T (p.Leu463Phe) single nucleotide variant not provided [RCV001767021] Chr17:44210446 [GRCh38]
Chr17:42287814 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2104_2105dup (p.Ser703fs) duplication not provided [RCV001786278] Chr17:44207517..44207518 [GRCh38]
Chr17:42284885..42284886 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.497A>G (p.Gln166Arg) single nucleotide variant not provided [RCV001771248]|not specified [RCV003401694] Chr17:44213260 [GRCh38]
Chr17:42290628 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.81G>A (p.Met27Ile) single nucleotide variant not provided [RCV001767162] Chr17:44216682 [GRCh38]
Chr17:42294050 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1775C>T (p.Pro592Leu) single nucleotide variant not provided [RCV001767616] Chr17:44209482 [GRCh38]
Chr17:42286850 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1279GAG[1] (p.Glu428del) microsatellite not provided [RCV001760800] Chr17:44210867..44210869 [GRCh38]
Chr17:42288235..42288237 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.166G>T (p.Glu56Ter) single nucleotide variant not provided [RCV001758231] Chr17:44216597 [GRCh38]
Chr17:42293965 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.185A>G (p.Asp62Gly) single nucleotide variant not provided [RCV001814846] Chr17:44216578 [GRCh38]
Chr17:42293946 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.785_792delinsCTG (p.Asp262fs) indel Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV001809187] Chr17:44211986..44211993 [GRCh38]
Chr17:42289354..42289361 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.403C>T (p.Pro135Ser) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV001803659] Chr17:44215725 [GRCh38]
Chr17:42293093 [GRCh37]
Chr17:17q21.31		 uncertain significance
GRCh37/hg19 17q21.31(chr17:42085508-42361563)x3 copy number gain not provided [RCV001836539] Chr17:42085508..42361563 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1351AAG[2] (p.Lys453del) microsatellite not provided [RCV002017118] Chr17:44210792..44210794 [GRCh38]
Chr17:42288160..42288162 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.271G>C (p.Asp91His) single nucleotide variant not provided [RCV003231819] Chr17:44215953 [GRCh38]
Chr17:42293321 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1066G>A (p.Val356Met) single nucleotide variant not provided [RCV002290947] Chr17:44211313 [GRCh38]
Chr17:42288681 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2040TGA[1] (p.Asp681del) microsatellite Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV002289304] Chr17:44207578..44207580 [GRCh38]
Chr17:42284946..42284948 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.906-3T>A single nucleotide variant not provided [RCV003233217] Chr17:44211750 [GRCh38]
Chr17:42289118 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.901C>A (p.Pro301Thr) single nucleotide variant not provided [RCV002511872] Chr17:44211877 [GRCh38]
Chr17:42289245 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.14C>G (p.Ala5Gly) single nucleotide variant not provided [RCV003156425] Chr17:44218216 [GRCh38]
Chr17:42295584 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.827G>T (p.Gly276Val) single nucleotide variant Inborn genetic diseases [RCV002821108] Chr17:44211951 [GRCh38]
Chr17:42289319 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1171G>A (p.Ala391Thr) single nucleotide variant Inborn genetic diseases [RCV002664418] Chr17:44211071 [GRCh38]
Chr17:42288439 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2196CGA[2] (p.Asp734del) microsatellite Inborn genetic diseases [RCV002742780] Chr17:44207333..44207335 [GRCh38]
Chr17:42284701..42284703 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1435G>A (p.Gly479Ser) single nucleotide variant Inborn genetic diseases [RCV002965247] Chr17:44210398 [GRCh38]
Chr17:42287766 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1309C>G (p.Leu437Val) single nucleotide variant Inborn genetic diseases [RCV002920982] Chr17:44210842 [GRCh38]
Chr17:42288210 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.661-4G>A single nucleotide variant Inborn genetic diseases [RCV002678390] Chr17:44212458 [GRCh38]
Chr17:42289826 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.1948T>A (p.Ser650Thr) single nucleotide variant Inborn genetic diseases [RCV003215628] Chr17:44207869 [GRCh38]
Chr17:42285237 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2291A>C (p.Asn764Thr) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV003139215] Chr17:44207246 [GRCh38]
Chr17:42284614 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2099G>A (p.Gly700Glu) single nucleotide variant Inborn genetic diseases [RCV003208590] Chr17:44207524 [GRCh38]
Chr17:42284892 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1709C>T (p.Pro570Leu) single nucleotide variant not provided [RCV003229148] Chr17:44209651 [GRCh38]
Chr17:42287019 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.159G>C (p.Met53Ile) single nucleotide variant not provided [RCV003152264] Chr17:44216604 [GRCh38]
Chr17:42293972 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.649G>A (p.Val217Met) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV003139216] Chr17:44212830 [GRCh38]
Chr17:42290198 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.442A>G (p.Lys148Glu) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV003140406] Chr17:44215686 [GRCh38]
Chr17:42293054 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2143G>A (p.Glu715Lys) single nucleotide variant Inborn genetic diseases [RCV003215162] Chr17:44207480 [GRCh38]
Chr17:42284848 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1199G>T (p.Gly400Val) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV003139214] Chr17:44211043 [GRCh38]
Chr17:42288411 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1587G>A (p.Met529Ile) single nucleotide variant not provided [RCV003319863] Chr17:44210163 [GRCh38]
Chr17:42287531 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.474+5G>T single nucleotide variant not provided [RCV003321343] Chr17:44215649 [GRCh38]
Chr17:42293017 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1989C>G (p.Asn663Lys) single nucleotide variant Inborn genetic diseases [RCV003377982]|UBTF-related condition [RCV003395754] Chr17:44207735 [GRCh38]
Chr17:42285103 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1414G>A (p.Gly472Ser) single nucleotide variant Inborn genetic diseases [RCV003349614] Chr17:44210419 [GRCh38]
Chr17:42287787 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.2061C>T (p.Asp687=) single nucleotide variant not provided [RCV003428294] Chr17:44207562 [GRCh38]
Chr17:42284930 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.1494C>T (p.Gly498=) single nucleotide variant not provided [RCV003428295] Chr17:44210339 [GRCh38]
Chr17:42287707 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1501C>T (p.Leu501=) single nucleotide variant UBTF-related condition [RCV003919135]|not provided [RCV003419751] Chr17:44210332 [GRCh38]
Chr17:42287700 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1925G>A (p.Arg642His) single nucleotide variant not specified [RCV003404822] Chr17:44207892 [GRCh38]
Chr17:42285260 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1953+3G>A single nucleotide variant not provided [RCV003413247] Chr17:44207861 [GRCh38]
Chr17:42285229 [GRCh37]
Chr17:17q21.31		 benign|likely benign
NM_014233.4(UBTF):c.1062C>T (p.Tyr354=) single nucleotide variant not provided [RCV003413248] Chr17:44211317 [GRCh38]
Chr17:42288685 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.122A>G (p.Asn41Ser) single nucleotide variant not specified [RCV003995143] Chr17:44216641 [GRCh38]
Chr17:42294009 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1836G>A (p.Lys612=) single nucleotide variant UBTF-related condition [RCV003977342] Chr17:44209421 [GRCh38]
Chr17:42286789 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.2196CGA[4] (p.Asp734_Glu735insAsp) microsatellite not specified [RCV003995142] Chr17:44207332..44207333 [GRCh38]
Chr17:42284700..42284701 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2236G>A (p.Glu746Lys) single nucleotide variant Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder [RCV003990371] Chr17:44207301 [GRCh38]
Chr17:42284669 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.1515+9G>A single nucleotide variant UBTF-related condition [RCV003903846] Chr17:44210309 [GRCh38]
Chr17:42287677 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.2170-7C>T single nucleotide variant UBTF-related condition [RCV003957300] Chr17:44207374 [GRCh38]
Chr17:42284742 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.1365G>A (p.Lys455=) single nucleotide variant UBTF-related condition [RCV003954321] Chr17:44210468 [GRCh38]
Chr17:42287836 [GRCh37]
Chr17:17q21.31		 benign
NM_014233.4(UBTF):c.1506C>T (p.Ala502=) single nucleotide variant UBTF-related condition [RCV003912193] Chr17:44210327 [GRCh38]
Chr17:42287695 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.1623T>C (p.Tyr541=) single nucleotide variant not specified [RCV003995141] Chr17:44210127 [GRCh38]
Chr17:42287495 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.1515+6_1515+7del deletion UBTF-related condition [RCV003957134] Chr17:44210311..44210312 [GRCh38]
Chr17:42287679..42287680 [GRCh37]
Chr17:17q21.31		 likely benign
NM_014233.4(UBTF):c.1921G>C (p.Asp641His) single nucleotide variant Inborn genetic diseases [RCV004477219] Chr17:44207896 [GRCh38]
Chr17:42285264 [GRCh37]
Chr17:17q21.31		 uncertain significance
NM_014233.4(UBTF):c.2196C>A (p.Asp732Glu) single nucleotide variant Inborn genetic diseases [RCV004477220] Chr17:44207341 [GRCh38]
Chr17:42284709 [GRCh37]
Chr17:17q21.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7171
Count of miRNA genes:1143
Interacting mature miRNAs:1459
Transcripts:ENST00000302904, ENST00000343638, ENST00000393606, ENST00000436088, ENST00000526094, ENST00000527034, ENST00000529042, ENST00000529373, ENST00000529383, ENST00000529947, ENST00000530828, ENST00000531368, ENST00000533177, ENST00000537550
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-N39596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,282,440 - 42,282,685UniSTSGRCh37
Build 361739,637,966 - 39,638,211RGDNCBI36
Celera1738,991,176 - 38,991,421RGD
Cytogenetic Map17q21.31UniSTS
HuRef1738,046,182 - 38,046,427UniSTS
GeneMap99-GB4 RH Map17319.26UniSTS
RH93951  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,282,622 - 42,282,783UniSTSGRCh37
Build 361739,638,148 - 39,638,309RGDNCBI36
Celera1738,991,358 - 38,991,519RGD
Cytogenetic Map17q21.31UniSTS
HuRef1738,046,364 - 38,046,525UniSTS
GeneMap99-GB4 RH Map17322.47UniSTS
UBTF__5182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,283,874 - 42,284,628UniSTSGRCh37
Build 361739,639,400 - 39,640,154RGDNCBI36
Celera1738,992,610 - 38,993,364RGD
HuRef1738,047,622 - 38,048,376UniSTS
G15974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,284,370 - 42,284,559UniSTSGRCh37
Build 361739,639,896 - 39,640,085RGDNCBI36
Celera1738,993,106 - 38,993,295RGD
Cytogenetic Map17q21.31UniSTS
HuRef1738,048,118 - 38,048,307UniSTS
SHGC-30675  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,283,972 - 42,284,121UniSTSGRCh37
Build 361739,639,498 - 39,639,647RGDNCBI36
Celera1738,992,708 - 38,992,857RGD
Cytogenetic Map17q21.31UniSTS
HuRef1738,047,720 - 38,047,869UniSTS
GeneMap99-GB4 RH Map17329.2UniSTS
Whitehead-RH Map17356.2UniSTS
GeneMap99-G3 RH Map172298.0UniSTS
RH70694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,284,300 - 42,284,420UniSTSGRCh37
Build 361739,639,826 - 39,639,946RGDNCBI36
Celera1738,993,036 - 38,993,156RGD
Cytogenetic Map17q21.31UniSTS
HuRef1738,048,048 - 38,048,168UniSTS
GeneMap99-GB4 RH Map17319.86UniSTS
NCBI RH Map17574.1UniSTS
A009G46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,282,537 - 42,282,654UniSTSGRCh37
Build 361739,638,063 - 39,638,180RGDNCBI36
Celera1738,991,273 - 38,991,390RGD
Cytogenetic Map17q21.31UniSTS
HuRef1738,046,279 - 38,046,396UniSTS
GeneMap99-GB4 RH Map17329.09UniSTS
MARC_10313-10314:998934876:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,287,517 - 42,288,494UniSTSGRCh37
Build 361739,643,043 - 39,644,020RGDNCBI36
Celera1738,996,242 - 38,997,219RGD
HuRef1738,051,254 - 38,052,232UniSTS
MARC_17735-17736:1031759262:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,293,919 - 42,295,603UniSTSGRCh37
Build 361739,649,445 - 39,651,129RGDNCBI36
Celera1739,002,641 - 39,004,325RGD
HuRef1738,057,659 - 38,059,343UniSTS
G32535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371742,282,537 - 42,282,655UniSTSGRCh37
Celera1738,991,273 - 38,991,391UniSTS
Cytogenetic Map17q21.31UniSTS
D17S2047  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q21.31UniSTS
TNG Radiation Hybrid Map1720290.0UniSTS
Stanford-G3 RH Map171838.0UniSTS
GeneMap99-G3 RH Map172339.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2427 2633 1701 601 1752 443 4336 2038 3504 409 1447 1607 171 1204 2769 4
Low 10 352 23 22 198 21 20 156 209 10 9 3 2 1 19 1
Below cutoff 2 2 1 1 20 2 2 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001076683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001076684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_045058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ308589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ308590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX406006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP230502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M61724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X53461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X56687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000302904   ⟹   ENSP00000302640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,205,033 - 44,221,626 (-)Ensembl
RefSeq Acc Id: ENST00000343638   ⟹   ENSP00000345297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,205,033 - 44,220,963 (-)Ensembl
RefSeq Acc Id: ENST00000393606   ⟹   ENSP00000377231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,116 - 44,219,750 (-)Ensembl
RefSeq Acc Id: ENST00000436088   ⟹   ENSP00000390669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,205,040 - 44,219,675 (-)Ensembl
RefSeq Acc Id: ENST00000526094   ⟹   ENSP00000432925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,240 - 44,218,502 (-)Ensembl
RefSeq Acc Id: ENST00000527034   ⟹   ENSP00000431539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,206,594 - 44,220,854 (-)Ensembl
RefSeq Acc Id: ENST00000529042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,212,180 - 44,213,356 (-)Ensembl
RefSeq Acc Id: ENST00000529373   ⟹   ENSP00000431295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,209,435 - 44,211,002 (-)Ensembl
RefSeq Acc Id: ENST00000529383   ⟹   ENSP00000435708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,240 - 44,218,502 (-)Ensembl
RefSeq Acc Id: ENST00000529947   ⟹   ENSP00000433625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,487 - 44,209,422 (-)Ensembl
RefSeq Acc Id: ENST00000530828   ⟹   ENSP00000433046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,213,225 - 44,218,502 (-)Ensembl
RefSeq Acc Id: ENST00000531368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,209,219 - 44,210,142 (-)Ensembl
RefSeq Acc Id: ENST00000533177   ⟹   ENSP00000437180
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,206,595 - 44,219,121 (-)Ensembl
RefSeq Acc Id: ENST00000537550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,215,354 - 44,218,540 (-)Ensembl
RefSeq Acc Id: ENST00000704740   ⟹   ENSP00000516018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,141 - 44,220,905 (-)Ensembl
RefSeq Acc Id: ENST00000704741   ⟹   ENSP00000516019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,211 - 44,220,915 (-)Ensembl
RefSeq Acc Id: ENST00000704742   ⟹   ENSP00000516020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,189 - 44,221,234 (-)Ensembl
RefSeq Acc Id: ENST00000704746   ⟹   ENSP00000516023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1744,207,182 - 44,219,060 (-)Ensembl
RefSeq Acc Id: NM_001076683   ⟹   NP_001070151
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,205,040 - 44,220,882 (-)NCBI
GRCh371742,282,401 - 42,298,994 (-)NCBI
Build 361739,637,927 - 39,653,776 (-)NCBI Archive
HuRef1738,046,143 - 38,062,692 (-)NCBI
CHM1_11742,517,584 - 42,533,551 (-)NCBI
T2T-CHM13v2.01745,058,143 - 45,073,980 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001076684   ⟹   NP_001070152
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,205,040 - 44,219,675 (-)NCBI
GRCh371742,282,401 - 42,298,994 (-)NCBI
Build 361739,637,927 - 39,652,450 (-)NCBI Archive
HuRef1738,046,143 - 38,062,692 (-)NCBI
CHM1_11742,517,584 - 42,532,218 (-)NCBI
T2T-CHM13v2.01745,058,143 - 45,072,772 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014233   ⟹   NP_055048
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,205,040 - 44,219,675 (-)NCBI
GRCh371742,282,401 - 42,298,994 (-)NCBI
Build 361739,637,927 - 39,651,190 (-)NCBI Archive
HuRef1738,046,143 - 38,062,692 (-)NCBI
CHM1_11742,517,584 - 42,532,218 (-)NCBI
T2T-CHM13v2.01745,058,143 - 45,072,772 (-)NCBI
Sequence:
RefSeq Acc Id: NR_045058
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,205,040 - 44,221,304 (-)NCBI
HuRef1738,046,143 - 38,062,692 (-)NCBI
CHM1_11742,517,584 - 42,534,295 (-)NCBI
T2T-CHM13v2.01745,058,143 - 45,074,402 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001070151 (Get FASTA)   NCBI Sequence Viewer  
  NP_001070152 (Get FASTA)   NCBI Sequence Viewer  
  NP_055048 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC51239 (Get FASTA)   NCBI Sequence Viewer  
  AAH31423 (Get FASTA)   NCBI Sequence Viewer  
  AAH42297 (Get FASTA)   NCBI Sequence Viewer  
  AAL55779 (Get FASTA)   NCBI Sequence Viewer  
  BAF84422 (Get FASTA)   NCBI Sequence Viewer  
  BAF85207 (Get FASTA)   NCBI Sequence Viewer  
  BAF85266 (Get FASTA)   NCBI Sequence Viewer  
  BAG59472 (Get FASTA)   NCBI Sequence Viewer  
  BAG60313 (Get FASTA)   NCBI Sequence Viewer  
  CAA37469 (Get FASTA)   NCBI Sequence Viewer  
  CAA37548 (Get FASTA)   NCBI Sequence Viewer  
  CAA40016 (Get FASTA)   NCBI Sequence Viewer  
  CAC34632 (Get FASTA)   NCBI Sequence Viewer  
  CAD35113 (Get FASTA)   NCBI Sequence Viewer  
  EAW51616 (Get FASTA)   NCBI Sequence Viewer  
  EAW51617 (Get FASTA)   NCBI Sequence Viewer  
  EAW51618 (Get FASTA)   NCBI Sequence Viewer  
  EAW51619 (Get FASTA)   NCBI Sequence Viewer  
  EAW51620 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000302640.4
  ENSP00000345297
  ENSP00000345297.5
  ENSP00000377231
  ENSP00000377231.3
  ENSP00000390669
  ENSP00000390669.1
  ENSP00000431295.1
  ENSP00000431539.1
  ENSP00000432925.1
  ENSP00000433046.1
  ENSP00000435708.1
  ENSP00000437180.1
  ENSP00000516018.1
  ENSP00000516019.1
  ENSP00000516020.1
  ENSP00000516023.1
GenBank Protein P17480 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001070151   ⟸   NM_001076683
- Peptide Label: isoform b
- UniProtKB: A0A994J4N4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070152   ⟸   NM_001076684
- Peptide Label: isoform b
- UniProtKB: A0A994J4N4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055048   ⟸   NM_014233
- Peptide Label: isoform a
- UniProtKB: A8K6R8 (UniProtKB/Swiss-Prot),   P17480 (UniProtKB/Swiss-Prot),   A8K962 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000433046   ⟸   ENST00000530828
RefSeq Acc Id: ENSP00000437180   ⟸   ENST00000533177
RefSeq Acc Id: ENSP00000377231   ⟸   ENST00000393606
RefSeq Acc Id: ENSP00000432925   ⟸   ENST00000526094
RefSeq Acc Id: ENSP00000431539   ⟸   ENST00000527034
RefSeq Acc Id: ENSP00000302640   ⟸   ENST00000302904
RefSeq Acc Id: ENSP00000345297   ⟸   ENST00000343638
RefSeq Acc Id: ENSP00000390669   ⟸   ENST00000436088
RefSeq Acc Id: ENSP00000431295   ⟸   ENST00000529373
RefSeq Acc Id: ENSP00000435708   ⟸   ENST00000529383
RefSeq Acc Id: ENSP00000433625   ⟸   ENST00000529947
RefSeq Acc Id: ENSP00000516019   ⟸   ENST00000704741
RefSeq Acc Id: ENSP00000516023   ⟸   ENST00000704746
RefSeq Acc Id: ENSP00000516018   ⟸   ENST00000704740
RefSeq Acc Id: ENSP00000516020   ⟸   ENST00000704742
Protein Domains
HMG box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17480-F1-model_v2 AlphaFold P17480 1-764 view protein structure

Promoters
RGD ID:6811382
Promoter ID:HG_ACW:34736
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UBTF.HAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,645,851 - 39,646,552 (-)MPROMDB
RGD ID:6794672
Promoter ID:HG_KWN:26305
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_014233,   UC002IGE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,651,146 - 39,652,282 (-)MPROMDB
RGD ID:6794673
Promoter ID:HG_KWN:26306
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001076684,   UC010CZS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,652,701 - 39,653,447 (-)MPROMDB
RGD ID:6794670
Promoter ID:HG_KWN:26307
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001076683,   UC010CZT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361739,653,651 - 39,655,182 (-)MPROMDB
RGD ID:7235251
Promoter ID:EPDNEW_H23372
Type:initiation region
Name:UBTF_3
Description:upstream binding transcription factor, RNA polymerase I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23373  EPDNEW_H23374  EPDNEW_H23375  EPDNEW_H23376  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,218,441 - 44,218,501EPDNEW
RGD ID:7235253
Promoter ID:EPDNEW_H23373
Type:initiation region
Name:UBTF_4
Description:upstream binding transcription factor, RNA polymerase I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23372  EPDNEW_H23374  EPDNEW_H23375  EPDNEW_H23376  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,219,498 - 44,219,558EPDNEW
RGD ID:7235257
Promoter ID:EPDNEW_H23374
Type:initiation region
Name:UBTF_2
Description:upstream binding transcription factor, RNA polymerase I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23372  EPDNEW_H23373  EPDNEW_H23375  EPDNEW_H23376  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,219,673 - 44,219,733EPDNEW
RGD ID:7235259
Promoter ID:EPDNEW_H23375
Type:initiation region
Name:UBTF_1
Description:upstream binding transcription factor, RNA polymerase I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23372  EPDNEW_H23373  EPDNEW_H23374  EPDNEW_H23376  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,220,879 - 44,220,939EPDNEW
RGD ID:7235261
Promoter ID:EPDNEW_H23376
Type:initiation region
Name:UBTF_5
Description:upstream binding transcription factor, RNA polymerase I
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23372  EPDNEW_H23373  EPDNEW_H23374  EPDNEW_H23375  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381744,221,626 - 44,221,686EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12511 AgrOrtholog
COSMIC UBTF COSMIC
Ensembl Genes ENSG00000108312 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302904.8 UniProtKB/Swiss-Prot
  ENST00000343638 ENTREZGENE
  ENST00000343638.9 UniProtKB/Swiss-Prot
  ENST00000393606 ENTREZGENE
  ENST00000393606.7 UniProtKB/Swiss-Prot
  ENST00000436088 ENTREZGENE
  ENST00000436088.6 UniProtKB/Swiss-Prot
  ENST00000526094.5 UniProtKB/Swiss-Prot
  ENST00000527034.5 UniProtKB/TrEMBL
  ENST00000529373.1 UniProtKB/TrEMBL
  ENST00000529383.5 UniProtKB/Swiss-Prot
  ENST00000530828.1 UniProtKB/TrEMBL
  ENST00000533177.5 UniProtKB/Swiss-Prot
  ENST00000704740.1 UniProtKB/TrEMBL
  ENST00000704741.1 UniProtKB/Swiss-Prot
  ENST00000704742.1 UniProtKB/Swiss-Prot
  ENST00000704746.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.30.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108312 GTEx
HGNC ID HGNC:12511 ENTREZGENE
Human Proteome Map UBTF Human Proteome Map
InterPro HMG_box_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7343 UniProtKB/Swiss-Prot
NCBI Gene 7343 ENTREZGENE
OMIM 600673 OMIM
PANTHER NUCLEOLAR TRANSCRIPTION FACTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UPSTREAM BINDING TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UPSTREAM BINDING TRANSCRIPTION FACTOR UniProtKB/TrEMBL
Pfam HMG_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HMG_box_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37158 PharmGKB
PROSITE HMG_BOX_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HMG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47095 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A994J4N4 ENTREZGENE, UniProtKB/TrEMBL
  A8K6R8 ENTREZGENE
  A8K962 ENTREZGENE, UniProtKB/TrEMBL
  B4DLB0_HUMAN UniProtKB/TrEMBL
  E9PKP7_HUMAN UniProtKB/TrEMBL
  E9PLT2_HUMAN UniProtKB/TrEMBL
  E9PMM2_HUMAN UniProtKB/TrEMBL
  O00164_HUMAN UniProtKB/TrEMBL
  P17480 ENTREZGENE
  Q05BZ1_HUMAN UniProtKB/TrEMBL
  Q9BQR2_HUMAN UniProtKB/TrEMBL
  UBF1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K6R8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-06 UBTF  upstream binding transcription factor    upstream binding transcription factor, RNA polymerase I  Symbol and/or name change 5135510 APPROVED