SF3B1 (splicing factor 3b subunit 1) - Rat Genome Database

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Gene: SF3B1 (splicing factor 3b subunit 1) Homo sapiens
Analyze
Symbol: SF3B1
Name: splicing factor 3b subunit 1
RGD ID: 1346641
HGNC Page HGNC:10768
Description: Enables RNA binding activity and splicing factor binding activity. Involved in positive regulation of transcription by RNA polymerase III. Acts upstream of or within mRNA splicing, via spliceosome. Located in B-WICH complex; U2-type spliceosomal complex; and nuclear speck. Part of spliceosomal complex and spliceosomal snRNP complex. Implicated in hepatocellular carcinoma and myelodysplastic syndrome. Biomarker of hepatocellular carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Hsh155; MDS; pre-mRNA processing 10; pre-mRNA splicing factor SF3b, 155 kDa subunit; pre-mRNA-splicing factor SF3b 155 kDa subunit; PRP10; PRPF10; SAP 155; SAP155; SF3b155; spliceosome associated protein 155; spliceosome-associated protein 155; splicing factor 3b, subunit 1, 155kD; splicing factor 3b, subunit 1, 155kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382197,389,784 - 197,435,093 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2197,388,515 - 197,435,079 (-)EnsemblGRCh38hg38GRCh38
GRCh372198,254,508 - 198,299,817 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362197,964,943 - 198,008,016 (-)NCBINCBI36Build 36hg18NCBI36
Build 342198,082,205 - 198,125,277NCBI
Celera2192,012,574 - 192,055,648 (-)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2190,109,104 - 190,152,365 (-)NCBIHuRef
CHM1_12198,262,509 - 198,305,605 (-)NCBICHM1_1
T2T-CHM13v2.02197,873,439 - 197,918,732 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetazolamide  (ISO)
aflatoxin B1  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
Brodifacoum  (ISO)
caffeine  (EXP)
calciol  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
ciguatoxin CTX1B  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
coumarin  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
hinokiflavone  (EXP)
hydrogen peroxide  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
ivermectin  (EXP)
methidathion  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
miconazole  (ISO)
N,N-diethyl-m-toluamide  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
quercitrin  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
Soman  (ISO)
testosterone enanthate  (EXP)
thapsigargin  (ISO)
thimerosal  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

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

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Proteomic analysis of in vivo-assembled pre-mRNA splicing complexes expands the catalog of participating factors. Chen YI, etal., Nucleic Acids Res. 2007;35(12):3928-44. Epub 2007 May 30.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Identification of anti-SF3B1 autoantibody as a diagnostic marker in patients with hepatocellular carcinoma. Hwang HM, etal., J Transl Med. 2018 Jun 28;16(1):177. doi: 10.1186/s12967-018-1546-z.
4. Splicing factor SF3B1 is overexpressed and implicated in the aggressiveness and survival of hepatocellular carcinoma. López-Cánovas JL, etal., Cancer Lett. 2021 Jan 1;496:72-83. doi: 10.1016/j.canlet.2020.10.010. Epub 2020 Oct 8.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9585501   PMID:9671485   PMID:9891079   PMID:10490618   PMID:10688664   PMID:10737800   PMID:10882114   PMID:11101529   PMID:11252167   PMID:11406595  
PMID:11500380   PMID:11991638   PMID:12105215   PMID:12226669   PMID:12234937   PMID:12477932   PMID:12549820   PMID:12738865   PMID:12769854   PMID:14702039   PMID:14730023   PMID:15146077  
PMID:15231748   PMID:15302935   PMID:15456888   PMID:15840729   PMID:15848144   PMID:16051665   PMID:16055720   PMID:16216881   PMID:16376933   PMID:16512921   PMID:16603771   PMID:16790528  
PMID:16964243   PMID:17081983   PMID:17332742   PMID:17353931   PMID:17403666   PMID:17620599   PMID:17803295   PMID:17931603   PMID:18076038   PMID:18173839   PMID:18457437   PMID:18559850  
PMID:18842582   PMID:18854154   PMID:18974054   PMID:19454010   PMID:19515850   PMID:19738201   PMID:20305087   PMID:20360068   PMID:20462248   PMID:20467437   PMID:20936779   PMID:21062891  
PMID:21081503   PMID:21081666   PMID:21145461   PMID:21182205   PMID:21873635   PMID:21886174   PMID:21900206   PMID:21995386   PMID:21998214   PMID:22039264   PMID:22064353   PMID:22064355  
PMID:22096241   PMID:22113938   PMID:22158541   PMID:22268729   PMID:22323480   PMID:22365833   PMID:22461140   PMID:22496461   PMID:22586326   PMID:22658674   PMID:22681889   PMID:22738114  
PMID:22751105   PMID:22826563   PMID:22921018   PMID:22929973   PMID:22939629   PMID:23084401   PMID:23113893   PMID:23125841   PMID:23138133   PMID:23151878   PMID:23160465   PMID:23178491  
PMID:23184937   PMID:23243274   PMID:23280334   PMID:23300182   PMID:23313955   PMID:23335386   PMID:23337928   PMID:23395771   PMID:23403292   PMID:23435461   PMID:23472066   PMID:23531595  
PMID:23555303   PMID:23558524   PMID:23568491   PMID:23594705   PMID:23594796   PMID:23620080   PMID:23685408   PMID:23694694   PMID:23793026   PMID:23831919   PMID:23858473   PMID:23861464  
PMID:24052622   PMID:24113472   PMID:24141330   PMID:24147044   PMID:24332808   PMID:24434863   PMID:24457600   PMID:24463145   PMID:24550385   PMID:24591637   PMID:24639526   PMID:24652989  
PMID:24709888   PMID:24711643   PMID:24723457   PMID:24795046   PMID:24811221   PMID:24854990   PMID:24927141   PMID:24970262   PMID:24981860   PMID:24984263   PMID:25056061   PMID:25257310  
PMID:25330446   PMID:25371178   PMID:25377784   PMID:25424858   PMID:25428262   PMID:25515538   PMID:25550361   PMID:25553291   PMID:25605254   PMID:25609649   PMID:25737280   PMID:25768983  
PMID:25798074   PMID:25892229   PMID:25921289   PMID:25948554   PMID:25957392   PMID:25963833   PMID:26030138   PMID:26044184   PMID:26083752   PMID:26167880   PMID:26186194   PMID:26209609  
PMID:26344197   PMID:26446488   PMID:26460480   PMID:26496610   PMID:26508027   PMID:26527279   PMID:26562302   PMID:26575292   PMID:26588928   PMID:26641092   PMID:26643973   PMID:26725010  
PMID:26742993   PMID:26769193   PMID:26816005   PMID:26819056   PMID:26831064   PMID:26842708   PMID:26923342   PMID:26970172   PMID:27025967   PMID:27089234   PMID:27123562   PMID:27203182  
PMID:27211273   PMID:27342126   PMID:27353360   PMID:27524419   PMID:27591049   PMID:27604819   PMID:27622333   PMID:27639445   PMID:27684187   PMID:27720643   PMID:27771989   PMID:27818134  
PMID:27916271   PMID:27927769   PMID:27976729   PMID:28062854   PMID:28177281   PMID:28296713   PMID:28302793   PMID:28302904   PMID:28330616   PMID:28372848   PMID:28409567   PMID:28416769  
PMID:28424451   PMID:28431233   PMID:28445500   PMID:28466384   PMID:28514442   PMID:28515276   PMID:28533407   PMID:28541300   PMID:28545085   PMID:28561026   PMID:28592886   PMID:28615231  
PMID:28634182   PMID:28781166   PMID:28810145   PMID:28902428   PMID:28967088   PMID:28973437   PMID:28977666   PMID:29030393   PMID:29180619   PMID:29229926   PMID:29249799   PMID:29298432  
PMID:29331416   PMID:29360106   PMID:29395067   PMID:29433555   PMID:29434284   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29511296   PMID:29653964   PMID:29656893   PMID:29721183  
PMID:29764937   PMID:29795372   PMID:29844126   PMID:29845934   PMID:29884807   PMID:29934401   PMID:29959282   PMID:29991511   PMID:30021884   PMID:30033366   PMID:30049194   PMID:30073324  
PMID:30110629   PMID:30152885   PMID:30194306   PMID:30209976   PMID:30258100   PMID:30320910   PMID:30401776   PMID:30404004   PMID:30409066   PMID:30442662   PMID:30455355   PMID:30463901  
PMID:30558566   PMID:30581150   PMID:30582853   PMID:30585729   PMID:30587503   PMID:30590765   PMID:30594750   PMID:30661660   PMID:30804502   PMID:30833792   PMID:30846499   PMID:30890647  
PMID:30923118   PMID:30940648   PMID:30948266   PMID:30997501   PMID:31010829   PMID:31030497   PMID:31048545   PMID:31091453   PMID:31110137   PMID:31124956   PMID:31177093   PMID:31180492  
PMID:31239290   PMID:31271494   PMID:31292266   PMID:31300519   PMID:31338849   PMID:31344348   PMID:31390568   PMID:31393856   PMID:31425584   PMID:31473630   PMID:31474574   PMID:31488558  
PMID:31586073   PMID:31614358   PMID:31665637   PMID:31707043   PMID:31744343   PMID:31812130   PMID:31858134   PMID:31919642   PMID:31927557   PMID:31980649   PMID:32037286   PMID:32076118  
PMID:32112088   PMID:32129710   PMID:32152280   PMID:32176739   PMID:32179032   PMID:32188845   PMID:32347921   PMID:32352217   PMID:32354150   PMID:32358566   PMID:32382008   PMID:32416067  
PMID:32427851   PMID:32460013   PMID:32513696   PMID:32545483   PMID:32552912   PMID:32665550   PMID:32687490   PMID:32698014   PMID:32707033   PMID:32780723   PMID:32786267   PMID:32788342  
PMID:32807901   PMID:32814769   PMID:33022573   PMID:33031100   PMID:33040078   PMID:33043582   PMID:33057152   PMID:33074477   PMID:33121237   PMID:33140678   PMID:33155727   PMID:33220019  
PMID:33301849   PMID:33306668   PMID:33358369   PMID:33397691   PMID:33409621   PMID:33536335   PMID:33545068   PMID:33561744   PMID:33603144   PMID:33658012   PMID:33742100   PMID:33751071  
PMID:33765355   PMID:33766124   PMID:33916271   PMID:33932092   PMID:33957083   PMID:33961781   PMID:34002025   PMID:34036300   PMID:34091597   PMID:34102999   PMID:34161603   PMID:34172893  
PMID:34185411   PMID:34186245   PMID:34215620   PMID:34373451   PMID:34502260   PMID:34520118   PMID:34619148   PMID:34650049   PMID:34706158   PMID:34728620   PMID:34795231   PMID:34930825  
PMID:35013218   PMID:35027467   PMID:35032548   PMID:35039052   PMID:35061527   PMID:35101379   PMID:35182466   PMID:35212356   PMID:35253629   PMID:35256949   PMID:35271311   PMID:35446349  
PMID:35478057   PMID:35509820   PMID:35545047   PMID:35582925   PMID:35652295   PMID:35681168   PMID:35751140   PMID:35776542   PMID:35780835   PMID:35785414   PMID:35796725   PMID:35803934  
PMID:35819319   PMID:35831314   PMID:35831895   PMID:35844135   PMID:35926182   PMID:35941108   PMID:35944360   PMID:35987950   PMID:36028755   PMID:36040792   PMID:36057605   PMID:36117041  
PMID:36261576   PMID:36459648  


Genomics

Comparative Map Data
SF3B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382197,389,784 - 197,435,093 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2197,388,515 - 197,435,079 (-)EnsemblGRCh38hg38GRCh38
GRCh372198,254,508 - 198,299,817 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362197,964,943 - 198,008,016 (-)NCBINCBI36Build 36hg18NCBI36
Build 342198,082,205 - 198,125,277NCBI
Celera2192,012,574 - 192,055,648 (-)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2190,109,104 - 190,152,365 (-)NCBIHuRef
CHM1_12198,262,509 - 198,305,605 (-)NCBICHM1_1
T2T-CHM13v2.02197,873,439 - 197,918,732 (-)NCBIT2T-CHM13v2.0
Sf3b1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39155,024,328 - 55,066,660 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl155,024,328 - 55,066,640 (-)EnsemblGRCm39 Ensembl
GRCm38154,985,169 - 55,027,501 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl154,985,169 - 55,027,481 (-)EnsemblGRCm38mm10GRCm38
MGSCv37155,042,013 - 55,084,322 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36154,929,714 - 54,988,277 (-)NCBIMGSCv36mm8
Celera155,504,913 - 55,547,551 (-)NCBICelera
Cytogenetic Map1C1.2NCBI
cM Map127.98NCBI
Sf3b1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2956,492,403 - 56,532,300 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl956,492,403 - 56,532,300 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx965,002,980 - 65,042,759 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0970,118,880 - 70,158,654 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0968,417,802 - 68,457,524 (-)NCBIRnor_WKY
Rnor_6.0961,594,620 - 61,634,510 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl961,594,620 - 61,634,510 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0961,274,727 - 61,315,726 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4953,796,176 - 53,837,297 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1953,814,990 - 53,838,594 (-)NCBI
Celera953,974,888 - 54,014,648 (-)NCBICelera
Cytogenetic Map9q31NCBI
Sf3b1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554033,134,955 - 3,166,121 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554033,134,960 - 3,163,395 (+)NCBIChiLan1.0ChiLan1.0
SF3B1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B202,530,200 - 202,573,346 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B202,530,200 - 202,573,346 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B84,633,272 - 84,678,602 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SF3B1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1376,922,150 - 6,962,474 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl376,924,047 - 6,962,896 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha377,870,202 - 7,908,677 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0376,814,539 - 6,853,018 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl376,812,676 - 6,852,935 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1376,813,346 - 6,851,824 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0376,780,170 - 6,818,628 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0376,803,469 - 6,841,942 (-)NCBIUU_Cfam_GSD_1.0
Sf3b1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303155,048,266 - 155,088,514 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365061,749,563 - 1,791,739 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365061,749,591 - 1,790,860 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SF3B1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15101,276,851 - 101,299,105 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115101,274,968 - 101,338,018 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215112,448,191 - 112,511,960 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SF3B1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11082,901,908 - 82,952,094 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1082,899,079 - 82,952,071 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040116,491,563 - 116,541,710 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sf3b1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248892,796,351 - 2,835,592 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SF3B1
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2
pathogenic
GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1 copy number loss See cases [RCV000051092] Chr2:194515159..198545937 [GRCh38]
Chr2:195379883..199410661 [GRCh37]
Chr2:195088128..199118906 [NCBI36]
Chr2:2q32.3-33.1
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1
pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
NM_012433.3(SF3B1):c.3889C>T (p.Arg1297Cys) single nucleotide variant Malignant melanoma [RCV000065354] Chr2:197392329 [GRCh38]
Chr2:198257053 [GRCh37]
Chr2:197965298 [NCBI36]
Chr2:2q33.1
not provided
NM_012433.3(SF3B1):c.2153C>T (p.Pro718Leu) single nucleotide variant Malignant melanoma [RCV000065355] Chr2:197402055 [GRCh38]
Chr2:198266779 [GRCh37]
Chr2:197975024 [NCBI36]
Chr2:2q33.1
not provided
NM_012433.4(SF3B1):c.967A>G (p.Ile323Val) single nucleotide variant not specified [RCV000122055] Chr2:197408519 [GRCh38]
Chr2:198273243 [GRCh37]
Chr2:2q33.1
not provided
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2
pathogenic
GRCh38/hg38 2q32.3-33.1(chr2:195368551-200214331)x1 copy number loss See cases [RCV000135664] Chr2:195368551..200214331 [GRCh38]
Chr2:196233275..201079054 [GRCh37]
Chr2:195941520..200787299 [NCBI36]
Chr2:2q32.3-33.1
pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1
likely pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35
pathogenic
GRCh38/hg38 2q33.1(chr2:197125460-199741748)x1 copy number loss See cases [RCV000142513] Chr2:197125460..199741748 [GRCh38]
Chr2:197990184..200606471 [GRCh37]
Chr2:197698429..200314716 [NCBI36]
Chr2:2q33.1
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
NM_012433.4(SF3B1):c.1998G>T (p.Lys666Asn) single nucleotide variant Acute myeloid leukemia [RCV000441310]|Myelodysplastic syndrome [RCV000431140]|Myelodysplastic syndrome progressed to acute myeloid leukemia [RCV000203465] Chr2:197402635 [GRCh38]
Chr2:198267359 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic|not provided
GRCh37/hg19 2q32.3-33.1(chr2:196581377-200947041)x1 copy number loss See cases [RCV000240401] Chr2:196581377..200947041 [GRCh37]
Chr2:2q32.3-33.1
pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1 copy number loss See cases [RCV000446984] Chr2:194581315..201752422 [GRCh37]
Chr2:2q32.3-33.1
pathogenic
NM_012433.4(SF3B1):c.1996A>C (p.Lys666Gln) single nucleotide variant B-cell chronic lymphocytic leukemia [RCV000445187]|Breast neoplasm [RCV000433378]|Hepatocellular carcinoma [RCV000441810]|Malignant melanoma of skin [RCV000423955] Chr2:197402637 [GRCh38]
Chr2:198267361 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.1998G>C (p.Lys666Asn) single nucleotide variant Acute myeloid leukemia [RCV000420231] Chr2:197402635 [GRCh38]
Chr2:198267359 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) single nucleotide variant Acute myeloid leukemia [RCV000420863]|Chronic myelogenous leukemia, BCR-ABL1 positive [RCV002291501]|not provided [RCV001531943] Chr2:197402110 [GRCh38]
Chr2:198266834 [GRCh37]
Chr2:2q33.1
pathogenic|likely pathogenic
NM_012433.4(SF3B1):c.2098A>T (p.Lys700Ter) single nucleotide variant Acute myeloid leukemia [RCV000424424] Chr2:197402110 [GRCh38]
Chr2:198266834 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.2099A>T (p.Lys700Ile) single nucleotide variant Acute myeloid leukemia [RCV000427144] Chr2:197402109 [GRCh38]
Chr2:198266833 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.1997A>G (p.Lys666Arg) single nucleotide variant Acute myeloid leukemia [RCV000428735]|not specified [RCV002465648] Chr2:197402636 [GRCh38]
Chr2:198267360 [GRCh37]
Chr2:2q33.1
likely pathogenic|uncertain significance
NM_012433.4(SF3B1):c.2100A>T (p.Lys700Asn) single nucleotide variant Acute myeloid leukemia [RCV000433675] Chr2:197402108 [GRCh38]
Chr2:198266832 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.2098A>C (p.Lys700Gln) single nucleotide variant Acute myeloid leukemia [RCV000435126] Chr2:197402110 [GRCh38]
Chr2:198266834 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.2099A>G (p.Lys700Arg) single nucleotide variant Acute myeloid leukemia [RCV000437798] Chr2:197402109 [GRCh38]
Chr2:198266833 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.1997A>C (p.Lys666Thr) single nucleotide variant Acute myeloid leukemia [RCV000438980] Chr2:197402636 [GRCh38]
Chr2:198267360 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.2100A>C (p.Lys700Asn) single nucleotide variant Acute myeloid leukemia [RCV000441901] Chr2:197402108 [GRCh38]
Chr2:198266832 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.2099A>C (p.Lys700Thr) single nucleotide variant Acute myeloid leukemia [RCV000444674] Chr2:197402109 [GRCh38]
Chr2:198266833 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.1873C>G (p.Arg625Gly) single nucleotide variant Adenoid cystic carcinoma [RCV000422052]|B-cell chronic lymphocytic leukemia [RCV000440627]|Malignant melanoma of skin [RCV000430356]|Transitional cell carcinoma of the bladder [RCV000432287] Chr2:197402760 [GRCh38]
Chr2:198267484 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.1996A>G (p.Lys666Glu) single nucleotide variant Acute myeloid leukemia [RCV000440031]|B-cell chronic lymphocytic leukemia [RCV000431560]|Breast neoplasm [RCV000421290]|Hepatocellular carcinoma [RCV000422376]|Malignant melanoma of skin [RCV000432266] Chr2:197402637 [GRCh38]
Chr2:198267361 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp) single nucleotide variant B-cell chronic lymphocytic leukemia [RCV000417601]|Renal cell carcinoma, papillary, 1 [RCV000438761] Chr2:197401887 [GRCh38]
Chr2:198266611 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.1874G>A (p.Arg625His) single nucleotide variant Adenoid cystic carcinoma [RCV000437765]|B-cell chronic lymphocytic leukemia [RCV000428407]|Malignant melanoma of skin [RCV000434927]|Transitional cell carcinoma of the bladder [RCV000418149]|Uveal melanoma [RCV001807245] Chr2:197402759 [GRCh38]
Chr2:198267483 [GRCh37]
Chr2:2q33.1
likely pathogenic
NM_012433.4(SF3B1):c.1873C>T (p.Arg625Cys) single nucleotide variant Adenoid cystic carcinoma [RCV000440401]|B-cell chronic lymphocytic leukemia [RCV000431257]|Malignant melanoma of skin [RCV000422746]|Transitional cell carcinoma of the bladder [RCV000420143] Chr2:197402760 [GRCh38]
Chr2:198267484 [GRCh37]
Chr2:2q33.1
likely pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1 copy number loss not provided [RCV000682162] Chr2:193537927..202027736 [GRCh37]
Chr2:2q32.3-33.1
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
GRCh37/hg19 2q33.1(chr2:198255940-198434319)x3 copy number gain not provided [RCV000740835] Chr2:198255940..198434319 [GRCh37]
Chr2:2q33.1
benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
NM_012433.4(SF3B1):c.2104C>A (p.Arg702=) single nucleotide variant not provided [RCV000970433] Chr2:197402104 [GRCh38]
Chr2:198266828 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.3906T>C (p.Tyr1302=) single nucleotide variant not provided [RCV000970432] Chr2:197392312 [GRCh38]
Chr2:198257036 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.666+6T>A single nucleotide variant not provided [RCV000970434] Chr2:197416735 [GRCh38]
Chr2:198281459 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.3867C>T (p.Asn1289=) single nucleotide variant not provided [RCV000973120] Chr2:197392351 [GRCh38]
Chr2:198257075 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.162C>T (p.Tyr54=) single nucleotide variant not provided [RCV000951241] Chr2:197423841 [GRCh38]
Chr2:198288565 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.1194A>C (p.Pro398=) single nucleotide variant not provided [RCV000909140] Chr2:197408043 [GRCh38]
Chr2:198272767 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.462T>C (p.Asp154=) single nucleotide variant not provided [RCV000940424] Chr2:197418542 [GRCh38]
Chr2:198283266 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.3540-8C>T single nucleotide variant not provided [RCV000967821] Chr2:197393196 [GRCh38]
Chr2:198257920 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.2111T>G (p.Ile704Ser) single nucleotide variant not provided [RCV000997639] Chr2:197402097 [GRCh38]
Chr2:198266821 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1 copy number loss not provided [RCV000849862] Chr2:195786723..200531127 [GRCh37]
Chr2:2q32.3-33.1
pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_012433.4(SF3B1):c.3216T>C (p.Ala1072=) single nucleotide variant not provided [RCV000888144] Chr2:197398035 [GRCh38]
Chr2:198262759 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.642A>G (p.Lys214=) single nucleotide variant not provided [RCV000974347] Chr2:197416765 [GRCh38]
Chr2:198281489 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.1155T>G (p.Ala385=) single nucleotide variant not provided [RCV000957560] Chr2:197408082 [GRCh38]
Chr2:198272806 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.1419A>G (p.Gln473=) single nucleotide variant not provided [RCV000889925] Chr2:197405293 [GRCh38]
Chr2:198270017 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.3657A>G (p.Val1219=) single nucleotide variant not provided [RCV001652902] Chr2:197393071 [GRCh38]
Chr2:198257795 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.2631T>C (p.Gly877=) single nucleotide variant not provided [RCV001614214] Chr2:197400802 [GRCh38]
Chr2:198265526 [GRCh37]
Chr2:2q33.1
benign
NM_012433.4(SF3B1):c.2587C>T (p.Gln863Ter) single nucleotide variant not specified [RCV001174780] Chr2:197400846 [GRCh38]
Chr2:198265570 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:197359024-201383462)x1 copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001263250] Chr2:197359024..201383462 [GRCh37]
Chr2:2q32.3-33.1
pathogenic
NM_012433.4(SF3B1):c.415+2T>G single nucleotide variant not provided [RCV001261927] Chr2:197420426 [GRCh38]
Chr2:198285150 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1
pathogenic
NM_012433.4(SF3B1):c.423A>G (p.Lys141=) single nucleotide variant not provided [RCV001794697] Chr2:197418581 [GRCh38]
Chr2:198283305 [GRCh37]
Chr2:2q33.1
benign
GRCh37/hg19 2q33.1(chr2:198057503-198461454) copy number gain not specified [RCV002053273] Chr2:198057503..198461454 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
GRCh37/hg19 2q33.1(chr2:197586481-200793870) copy number loss not specified [RCV002053272] Chr2:197586481..200793870 [GRCh37]
Chr2:2q33.1
pathogenic
NM_012433.4(SF3B1):c.207C>G (p.Asp69Glu) single nucleotide variant Myelodysplastic syndrome [RCV002287273] Chr2:197421122 [GRCh38]
Chr2:198285846 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1
pathogenic
GRCh37/hg19 2q33.1(chr2:197704153-198552092)x3 copy number gain not provided [RCV002473686] Chr2:197704153..198552092 [GRCh37]
Chr2:2q33.1
uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2503
Count of miRNA genes:1087
Interacting mature miRNAs:1345
Transcripts:ENST00000335508, ENST00000409915, ENST00000414174, ENST00000414963, ENST00000424674, ENST00000462613, ENST00000468925, ENST00000470268, ENST00000479532, ENST00000482158, ENST00000487698, ENST00000496458
Prediction methods:Microtar, Miranda, 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
RH66152  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,256,740 - 198,256,928UniSTSGRCh37
Build 362197,964,985 - 197,965,173RGDNCBI36
Celera2192,012,616 - 192,012,804RGD
Cytogenetic Map2q33.1UniSTS
HuRef2190,109,146 - 190,109,334UniSTS
GeneMap99-GB4 RH Map2622.75UniSTS
G54156  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,257,745 - 198,257,892UniSTSGRCh37
Build 362197,965,990 - 197,966,137RGDNCBI36
Celera2192,013,623 - 192,013,770RGD
Cytogenetic Map2q33.1UniSTS
HuRef2190,110,153 - 190,110,300UniSTS
RH118649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,284,571 - 198,284,888UniSTSGRCh37
Build 362197,992,816 - 197,993,133RGDNCBI36
Celera2192,040,448 - 192,040,765RGD
Cytogenetic Map2q33.1UniSTS
HuRef2190,137,165 - 190,137,482UniSTS
TNG Radiation Hybrid Map2108007.0UniSTS
D2S1533E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,262,734 - 198,262,815UniSTSGRCh37
Build 362197,970,979 - 197,971,060RGDNCBI36
Celera2192,018,612 - 192,018,693RGD
Cytogenetic Map2q33.1UniSTS
HuRef2190,115,269 - 190,115,350UniSTS
GeneMap99-GB4 RH Map2618.48UniSTS
EST23H7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,256,732 - 198,256,913UniSTSGRCh37
Build 362197,964,977 - 197,965,158RGDNCBI36
Celera2192,012,608 - 192,012,789RGD
HuRef2190,109,138 - 190,109,319UniSTS
MARC_11487-11488:1000830916:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,284,337 - 198,284,763UniSTSGRCh37
Build 362197,992,582 - 197,993,008RGDNCBI36
Celera2192,040,214 - 192,040,640RGD
HuRef2190,136,931 - 190,137,357UniSTS
MARC_15343-15344:1013437555:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,285,226 - 198,285,824UniSTSGRCh37
Build 362197,993,471 - 197,994,069RGDNCBI36
Celera2192,041,103 - 192,041,701RGD
HuRef2190,137,820 - 190,138,418UniSTS
A006O45  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q33.1UniSTS
GeneMap99-GB4 RH Map2624.06UniSTS
SF3B1-1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372198,267,492 - 198,268,404UniSTSGRCh37
Celera2192,023,370 - 192,024,282UniSTS
HuRef2190,120,027 - 190,120,939UniSTS


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 5
Medium 2439 2943 1724 623 1915 464 4357 2185 3699 419 1455 1612 175 1 1204 2788 6 2
Low 48 2 1 36 1 12 35 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001005526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_241302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF054284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE168209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE168220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD692669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY054349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ488324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000335508   ⟹   ENSP00000335321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,389,784 - 197,435,028 (-)Ensembl
RefSeq Acc Id: ENST00000409915   ⟹   ENSP00000428820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,416,891 - 197,435,027 (-)Ensembl
RefSeq Acc Id: ENST00000414174   ⟹   ENSP00000392117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,420,181 - 197,435,016 (-)Ensembl
RefSeq Acc Id: ENST00000414963   ⟹   ENSP00000402997
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,418,796 - 197,435,079 (-)Ensembl
RefSeq Acc Id: ENST00000424674   ⟹   ENSP00000409435
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,393,052 - 197,399,028 (-)Ensembl
RefSeq Acc Id: ENST00000462613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,402,022 - 197,402,452 (-)Ensembl
RefSeq Acc Id: ENST00000468925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,407,936 - 197,408,694 (-)Ensembl
RefSeq Acc Id: ENST00000470268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,389,792 - 197,435,044 (-)Ensembl
RefSeq Acc Id: ENST00000479532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,392,255 - 197,393,351 (-)Ensembl
RefSeq Acc Id: ENST00000482158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,416,594 - 197,418,962 (-)Ensembl
RefSeq Acc Id: ENST00000487698   ⟹   ENSP00000419896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,418,796 - 197,435,079 (-)Ensembl
RefSeq Acc Id: ENST00000496458
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,397,954 - 197,398,772 (-)Ensembl
RefSeq Acc Id: ENST00000652026   ⟹   ENSP00000498652
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,388,515 - 197,435,047 (-)Ensembl
RefSeq Acc Id: ENST00000652738   ⟹   ENSP00000499119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2197,388,515 - 197,435,029 (-)Ensembl
RefSeq Acc Id: NM_001005526   ⟹   NP_001005526
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,418,796 - 197,435,093 (-)NCBI
GRCh372198,256,698 - 198,299,815 (-)NCBI
Build 362197,991,765 - 198,008,016 (-)NCBI Archive
HuRef2190,109,104 - 190,152,365 (-)ENTREZGENE
CHM1_12198,289,354 - 198,305,651 (-)NCBI
T2T-CHM13v2.02197,902,438 - 197,918,732 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001308824   ⟹   NP_001295753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,418,796 - 197,435,093 (-)NCBI
CHM1_12198,289,354 - 198,305,651 (-)NCBI
T2T-CHM13v2.02197,902,438 - 197,918,732 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012433   ⟹   NP_036565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,389,784 - 197,435,028 (-)NCBI
GRCh372198,256,698 - 198,299,815 (-)NCBI
Build 362197,964,943 - 198,008,016 (-)NCBI Archive
HuRef2190,109,104 - 190,152,365 (-)ENTREZGENE
CHM1_12198,262,509 - 198,305,651 (-)NCBI
T2T-CHM13v2.02197,873,439 - 197,918,667 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443838   ⟹   XP_047299794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,389,784 - 197,420,493 (-)NCBI
RefSeq Acc Id: XM_047443839   ⟹   XP_047299795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,389,784 - 197,420,320 (-)NCBI
RefSeq Acc Id: XM_047443840   ⟹   XP_047299796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,398,511 - 197,435,093 (-)NCBI
RefSeq Acc Id: XM_047443841   ⟹   XP_047299797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,418,515 - 197,435,093 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001005526 (Get FASTA)   NCBI Sequence Viewer  
  NP_001295753 (Get FASTA)   NCBI Sequence Viewer  
  NP_036565 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299794 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299795 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299796 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299797 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28633 (Get FASTA)   NCBI Sequence Viewer  
  AAC97189 (Get FASTA)   NCBI Sequence Viewer  
  AAH15530 (Get FASTA)   NCBI Sequence Viewer  
  AAH29418 (Get FASTA)   NCBI Sequence Viewer  
  AAH56155 (Get FASTA)   NCBI Sequence Viewer  
  AAI07884 (Get FASTA)   NCBI Sequence Viewer  
  BAF83159 (Get FASTA)   NCBI Sequence Viewer  
  BAG57955 (Get FASTA)   NCBI Sequence Viewer  
  CAB70728 (Get FASTA)   NCBI Sequence Viewer  
  EAW70146 (Get FASTA)   NCBI Sequence Viewer  
  O75533 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07615 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07616 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07617 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07618 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07619 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07620 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07621 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07622 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07623 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07624 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07625 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07626 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07627 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07628 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07629 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07630 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07631 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07632 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07633 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07634 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07635 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07636 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07637 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07638 (Get FASTA)   NCBI Sequence Viewer  
  UXQ07639 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_036565   ⟸   NM_012433
- Peptide Label: isoform 1
- UniProtKB: E9PCH3 (UniProtKB/Swiss-Prot),   O75533 (UniProtKB/Swiss-Prot),   B4DGZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001005526   ⟸   NM_001005526
- Peptide Label: isoform 2
- UniProtKB: B4DGZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295753   ⟸   NM_001308824
- Peptide Label: isoform 3
- UniProtKB: B4DGZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000409435   ⟸   ENST00000424674
RefSeq Acc Id: ENSP00000335321   ⟸   ENST00000335508
RefSeq Acc Id: ENSP00000392117   ⟸   ENST00000414174
RefSeq Acc Id: ENSP00000402997   ⟸   ENST00000414963
RefSeq Acc Id: ENSP00000498652   ⟸   ENST00000652026
RefSeq Acc Id: ENSP00000499119   ⟸   ENST00000652738
RefSeq Acc Id: ENSP00000419896   ⟸   ENST00000487698
RefSeq Acc Id: ENSP00000428820   ⟸   ENST00000409915
RefSeq Acc Id: XP_047299794   ⟸   XM_047443838
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047299795   ⟸   XM_047443839
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047299796   ⟸   XM_047443840
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047299797   ⟸   XM_047443841
- Peptide Label: isoform X3
Protein Domains
SF3b1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75533-F1-model_v2 AlphaFold O75533 1-1304 view protein structure

Promoters
RGD ID:6862418
Promoter ID:EPDNEW_H4374
Type:initiation region
Name:SF3B1_1
Description:splicing factor 3b subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,435,028 - 197,435,088EPDNEW
RGD ID:6798144
Promoter ID:HG_KWN:36533
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000335250
Position:
Human AssemblyChrPosition (strand)Source
Build 362197,965,831 - 197,966,331 (-)MPROMDB
RGD ID:6798145
Promoter ID:HG_KWN:36534
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000336370,   OTTHUMT00000336371
Position:
Human AssemblyChrPosition (strand)Source
Build 362197,971,886 - 197,972,386 (-)MPROMDB
RGD ID:6798143
Promoter ID:HG_KWN:36540
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409915,   NM_001005526,   OTTHUMT00000335245,   OTTHUMT00000335247,   OTTHUMT00000335249,   UC010FSK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362198,007,716 - 198,008,292 (-)MPROMDB
RGD ID:6851162
Promoter ID:EP73378
Type:initiation region
Name:HS_SF3B1
Description:Splicing factor 3b, subunit 1, 155kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 362198,007,997 - 198,008,057EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10768 AgrOrtholog
COSMIC SF3B1 COSMIC
Ensembl Genes ENSG00000115524 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335321 ENTREZGENE
  ENSP00000335321.6 UniProtKB/Swiss-Prot
  ENSP00000392117.1 UniProtKB/TrEMBL
  ENSP00000402997 ENTREZGENE
  ENSP00000402997.2 UniProtKB/Swiss-Prot
  ENSP00000409435.1 UniProtKB/TrEMBL
  ENSP00000419896 ENTREZGENE
  ENSP00000419896.1 UniProtKB/TrEMBL
  ENSP00000428820 ENTREZGENE
  ENSP00000428820.1 UniProtKB/Swiss-Prot
  ENSP00000498652.1 UniProtKB/TrEMBL
  ENSP00000499119.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000335508 ENTREZGENE
  ENST00000335508.11 UniProtKB/Swiss-Prot
  ENST00000409915 ENTREZGENE
  ENST00000409915.8 UniProtKB/Swiss-Prot
  ENST00000414174.1 UniProtKB/TrEMBL
  ENST00000414963 ENTREZGENE
  ENST00000414963.2 UniProtKB/Swiss-Prot
  ENST00000424674.1 UniProtKB/TrEMBL
  ENST00000470268 ENTREZGENE
  ENST00000487698 ENTREZGENE
  ENST00000487698.5 UniProtKB/TrEMBL
  ENST00000652026.1 UniProtKB/TrEMBL
  ENST00000652738.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115524 GTEx
HGNC ID HGNC:10768 ENTREZGENE
Human Proteome Map SF3B1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SF3b_su1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SF3b_su1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23451 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23451 ENTREZGENE
OMIM 605590 OMIM
  614286 OMIM
PANTHER PTHR12097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SF3b1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35686 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A494C1M2_HUMAN UniProtKB/TrEMBL
  A0JLT9_HUMAN UniProtKB/TrEMBL
  A0PJH5_HUMAN UniProtKB/TrEMBL
  B4DGZ4 ENTREZGENE, UniProtKB/TrEMBL
  E9PCH3 ENTREZGENE
  F8WC19_HUMAN UniProtKB/TrEMBL
  H7C341_HUMAN UniProtKB/TrEMBL
  O75533 ENTREZGENE
  Q32Q20_HUMAN UniProtKB/TrEMBL
  Q7Z497_HUMAN UniProtKB/TrEMBL
  SF3B1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E9PCH3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-05 SF3B1  splicing factor 3b subunit 1    splicing factor 3b, subunit 1, 155kDa  Symbol and/or name change 5135510 APPROVED
2011-08-17 SF3B1  splicing factor 3b, subunit 1, 155kDa  SF3B1  splicing factor 3b, subunit 1, 155kDa  Symbol and/or name change 5135510 APPROVED