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 nuclear speck. Part of nucleus. 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 Orthologs
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.p14 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)
17beta-estradiol  (ISO)
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)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
Brodifacoum  (ISO)
Butylbenzyl phthalate  (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 phosphate  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (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)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
testosterone enanthate  (EXP)
thapsigargin  (ISO)
thimerosal  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
ursodeoxycholic acid  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal fingernail morphology  (IAGP)
Abnormal fundus morphology  (IAGP)
Abnormal megakaryocyte morphology  (IAGP)
Abnormal number of granulocyte precursors  (IAGP)
Abnormal visual accommodation  (IAGP)
Abnormality of refraction  (IAGP)
Acute myeloid leukemia  (IAGP)
Anemia of inadequate production  (IAGP)
Bone marrow hypocellularity  (IAGP)
Choroidal melanoma  (IAGP)
Chronic infection  (IAGP)
Chronic lymphatic leukemia  (IAGP)
Chronic myelogenous leukemia  (IAGP)
Ciliary body melanoma  (IAGP)
Congestive heart failure  (IAGP)
Cutaneous melanoma  (IAGP)
Dysplastic granulopoesis  (IAGP)
Erythroid hyperplasia  (IAGP)
Granulocytopenia  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hypochromic anemia  (IAGP)
Hyposegmentation of neutrophil nuclei  (IAGP)
Increased megakaryocyte count  (IAGP)
Inferior lens subluxation  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Iris melanoma  (IAGP)
Leukocytosis  (IAGP)
Megaloblastic erythroid hyperplasia  (IAGP)
Metamorphopsia  (IAGP)
Mydriasis  (IAGP)
Myelodysplasia  (IAGP)
Neoplasm of the breast  (IAGP)
Neutropenia  (IAGP)
Normochromic anemia  (IAGP)
Normocytic anemia  (IAGP)
Ocular hypertension  (IAGP)
Ocular pain  (IAGP)
Pallor  (IAGP)
Pancytopenia  (IAGP)
Papillary renal cell carcinoma type 1  (IAGP)
Photopsia  (IAGP)
Refractory anemia with ringed sideroblasts  (IAGP)
Retinal detachment  (IAGP)
Splenomegaly  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Transitional cell carcinoma of the bladder  (IAGP)
Typified by somatic mosaicism  (IAGP)
Visual loss  (IAGP)
Vitreous hemorrhage  (IAGP)
Zonular cataract  (IAGP)
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:16432215   PMID:16512921   PMID:16603771  
PMID:16790528   PMID:16964243   PMID:17081983   PMID:17332742   PMID:17353931   PMID:17403666   PMID:17589525   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  
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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:28524877   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  
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PMID:29653964   PMID:29656893   PMID:29721183   PMID:29764937   PMID:29795372   PMID:29844126   PMID:29845934   PMID:29884807   PMID:29934401   PMID:29959282   PMID:29991511   PMID:30021884  
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PMID:30804502   PMID:30833792   PMID:30846499   PMID:30884312   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:31324722   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:32433965   PMID:32460013   PMID:32494006   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:33239621   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:34349018   PMID:34373451   PMID:34502260   PMID:34520118   PMID:34619148   PMID:34650049   PMID:34706158   PMID:34728620   PMID:34795231   PMID:34822310   PMID:34901782   PMID:34930825  
PMID:35013218   PMID:35027467   PMID:35032548   PMID:35039052   PMID:35061527   PMID:35101379   PMID:35182466   PMID:35212356   PMID:35235311   PMID:35253629   PMID:35256949   PMID:35271311  
PMID:35439318   PMID:35446349   PMID:35478057   PMID:35509820   PMID:35545047   PMID:35575683   PMID:35582925   PMID:35652295   PMID:35681168   PMID:35751140   PMID:35780835   PMID:35785414  
PMID:35787095   PMID:35796725   PMID:35803934   PMID:35819319   PMID:35831314   PMID:35831895   PMID:35844135   PMID:35906200   PMID:35914814   PMID:35926182   PMID:35941108   PMID:35944360  
PMID:35973513   PMID:35987950   PMID:36028755   PMID:36040792   PMID:36057605   PMID:36114006   PMID:36117041   PMID:36180527   PMID:36215168   PMID:36243803   PMID:36244648   PMID:36261009  
PMID:36261576   PMID:36271152   PMID:36373674   PMID:36411516   PMID:36424410   PMID:36459648   PMID:36526897   PMID:36574265   PMID:36604567   PMID:36797247   PMID:36944332   PMID:36964488  
PMID:37026485   PMID:37059091   PMID:37071682   PMID:37207277   PMID:37219487   PMID:37223481   PMID:37263951   PMID:37314180   PMID:37314216   PMID:37317656   PMID:37408496   PMID:37511096  
PMID:37524790   PMID:37616343   PMID:37704626   PMID:37721395   PMID:37756564   PMID:37827155   PMID:37921711   PMID:37981774   PMID:38113892   PMID:38172120   PMID:38186023   PMID:38517966  
PMID:38521065   PMID:38632316   PMID:38688280   PMID:38697112   PMID:39127833   PMID:39261602  


Genomics

Comparative Map Data
SF3B1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382197,389,784 - 197,435,093 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 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
GRCr8963,986,829 - 64,026,723 (-)NCBIGRCr8
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_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0970,118,880 - 70,158,654 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0968,417,802 - 68,457,524 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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
NHGRI_mPanPan1-v213100,006,148 - 100,049,332 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B100,020,997 - 100,065,215 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B84,633,272 - 84,678,602 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B202,530,200 - 202,573,346 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B202,530,200 - 202,573,346 (-)Ensemblpanpan1.1panPan2
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 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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
54 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		 pathogenic|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]|SF3B1-related disorder [RCV003401412]|not provided [RCV001531943] Chr2:197402110 [GRCh38]
Chr2:198266834 [GRCh37]
Chr2:2q33.1		 pathogenic|likely pathogenic|uncertain significance
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]|Papillary renal cell carcinoma type 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]|See cases [RCV004584382]|Transitional cell carcinoma of the bladder [RCV000418149] 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
NM_012433.4(SF3B1):c.550G>A (p.Val184Ile) single nucleotide variant not specified [RCV004330258] Chr2:197416857 [GRCh38]
Chr2:198281581 [GRCh37]
Chr2:2q33.1		 uncertain significance
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|likely benign
NM_012433.4(SF3B1):c.1194A>C (p.Pro398=) single nucleotide variant SF3B1-related disorder [RCV003923122]|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.827A>G (p.His276Arg) single nucleotide variant not specified [RCV004319361] Chr2:197409847 [GRCh38]
Chr2:198274571 [GRCh37]
Chr2:2q33.1		 uncertain significance
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|likely 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|likely benign
NM_012433.4(SF3B1):c.1419A>G (p.Gln473=) single nucleotide variant SF3B1-related disorder [RCV003930764]|not provided [RCV000889925] Chr2:197405293 [GRCh38]
Chr2:198270017 [GRCh37]
Chr2:2q33.1		 benign|likely benign
NM_012433.4(SF3B1):c.3657A>G (p.Val1219=) single nucleotide variant SF3B1-related disorder [RCV003975807]|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 SF3B1-related disorder [RCV003980782]|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 SF3B1-related disorder [RCV003976184]|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
NM_012433.4(SF3B1):c.2107A>C (p.Thr703Pro) single nucleotide variant Neurodevelopmental disorder [RCV004586491] Chr2:197402101 [GRCh38]
Chr2:198266825 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_012433.4(SF3B1):c.1361A>G (p.Lys454Arg) single nucleotide variant not specified [RCV004106527] Chr2:197405351 [GRCh38]
Chr2:198270075 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_012433.4(SF3B1):c.163G>A (p.Val55Met) single nucleotide variant not specified [RCV004341053] Chr2:197423840 [GRCh38]
Chr2:198288564 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_012433.4(SF3B1):c.3235A>G (p.Asn1079Asp) single nucleotide variant SF3B1-related disorder [RCV003420919] Chr2:197398016 [GRCh38]
Chr2:198262740 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_012433.4(SF3B1):c.831G>A (p.Ala277=) single nucleotide variant SF3B1-related disorder [RCV003912190] Chr2:197409843 [GRCh38]
Chr2:198274567 [GRCh37]
Chr2:2q33.1		 likely benign
NM_012433.4(SF3B1):c.3013+8A>G single nucleotide variant SF3B1-related disorder [RCV003924742] Chr2:197400047 [GRCh38]
Chr2:198264771 [GRCh37]
Chr2:2q33.1		 likely benign
NM_012433.4(SF3B1):c.2931A>G (p.Val977=) single nucleotide variant SF3B1-related disorder [RCV003924556] Chr2:197400137 [GRCh38]
Chr2:198264861 [GRCh37]
Chr2:2q33.1		 likely benign
NM_012433.4(SF3B1):c.2078-8T>A single nucleotide variant SF3B1-related disorder [RCV003932271] Chr2:197402138 [GRCh38]
Chr2:198266862 [GRCh37]
Chr2:2q33.1		 likely benign
NM_012433.4(SF3B1):c.3096A>G (p.Gln1032=) single nucleotide variant SF3B1-related disorder [RCV003911974] Chr2:197398499 [GRCh38]
Chr2:198263223 [GRCh37]
Chr2:2q33.1		 likely benign
NM_012433.4(SF3B1):c.1147C>A (p.Leu383Ile) single nucleotide variant not specified [RCV004455698] Chr2:197408090 [GRCh38]
Chr2:198272814 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_012433.4(SF3B1):c.395G>A (p.Arg132His) single nucleotide variant SF3B1-related disorder [RCV004731959] Chr2:197420448 [GRCh38]
Chr2:198285172 [GRCh37]
Chr2:2q33.1		 uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407181157GWAS830133_HBMI-adjusted waist circumference QTL GWAS830133 (human)2e-08BMI-adjusted waist circumference2197408867197408868Human
407355846GWAS1004822_Hcortical surface area measurement QTL GWAS1004822 (human)2e-15cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)2197393071197393072Human
407303684GWAS952660_Hschizophrenia, intelligence, self reported educational attainment QTL GWAS952660 (human)1e-09schizophrenia, intelligence, self reported educational attainment2197428967197428968Human
407355013GWAS1003989_Hcortical surface area measurement QTL GWAS1003989 (human)3e-12cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)2197393071197393072Human
407049958GWAS698934_Hcortical surface area measurement QTL GWAS698934 (human)2e-15cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)2197412774197412775Human
407368655GWAS1017631_Hbipolar disorder QTL GWAS1017631 (human)7e-09bipolar disorder2197393071197393072Human
407368653GWAS1017629_Hschizophrenia QTL GWAS1017629 (human)2e-11schizophrenia2197393071197393072Human
406997710GWAS646686_Hunipolar depression QTL GWAS646686 (human)0.000002unipolar depression2197417052197417053Human
407328490GWAS977466_Hunipolar depression QTL GWAS977466 (human)1e-08unipolar depression2197415862197415863Human
407396869GWAS1045845_Hcortical thickness QTL GWAS1045845 (human)2e-21cortical thickness2197393071197393072Human
406953774GWAS602750_Hbody mass index QTL GWAS602750 (human)4e-13body mass indexbody mass index (BMI) (CMO:0000105)2197398422197398423Human
407329000GWAS977976_Hschizophrenia QTL GWAS977976 (human)8e-12schizophrenia2197393071197393072Human
407288436GWAS937412_Hvaginal microbiome measurement QTL GWAS937412 (human)0.000007vaginal microbiome measurement2197429892197429893Human
407355285GWAS1004261_Hcortical surface area measurement QTL GWAS1004261 (human)2e-17cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)2197393071197393072Human
407356243GWAS1005219_Hbrain measurement QTL GWAS1005219 (human)5e-62brain measurementbrain measurement (CMO:0000911)2197393071197393072Human
407359423GWAS1008399_Hcortical surface area measurement QTL GWAS1008399 (human)1e-14cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)2197393071197393072Human
407397137GWAS1046113_Hcortical surface area measurement QTL GWAS1046113 (human)2e-26cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)2197393071197393072Human
407366717GWAS1015693_Hcortical thickness QTL GWAS1015693 (human)1e-17cortical thickness2197393071197393072Human
407010974GWAS659950_Hbody height QTL GWAS659950 (human)2e-09body height (VT:0001253)body height (CMO:0000106)2197398422197398423Human
407359418GWAS1008394_Hcortical surface area measurement QTL GWAS1008394 (human)5e-08cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)2197393071197393072Human

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

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

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
  XM_054341208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341211 (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

Ensembl Acc Id: ENST00000335508   ⟹   ENSP00000335321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,389,784 - 197,435,028 (-)Ensembl
Ensembl Acc Id: ENST00000409915   ⟹   ENSP00000428820
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,416,891 - 197,435,027 (-)Ensembl
Ensembl Acc Id: ENST00000414174   ⟹   ENSP00000392117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,420,181 - 197,435,016 (-)Ensembl
Ensembl Acc Id: ENST00000414963   ⟹   ENSP00000402997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,418,796 - 197,435,079 (-)Ensembl
Ensembl Acc Id: ENST00000424674   ⟹   ENSP00000409435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,393,052 - 197,399,028 (-)Ensembl
Ensembl Acc Id: ENST00000462613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,402,022 - 197,402,452 (-)Ensembl
Ensembl Acc Id: ENST00000468925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,407,936 - 197,408,694 (-)Ensembl
Ensembl Acc Id: ENST00000470268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,389,792 - 197,435,044 (-)Ensembl
Ensembl Acc Id: ENST00000479532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,392,255 - 197,393,351 (-)Ensembl
Ensembl Acc Id: ENST00000482158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,416,594 - 197,418,962 (-)Ensembl
Ensembl Acc Id: ENST00000487698   ⟹   ENSP00000419896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,418,796 - 197,435,079 (-)Ensembl
Ensembl Acc Id: ENST00000496458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,397,954 - 197,398,772 (-)Ensembl
Ensembl Acc Id: ENST00000652026   ⟹   ENSP00000498652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2197,388,515 - 197,435,047 (-)Ensembl
Ensembl Acc Id: ENST00000652738   ⟹   ENSP00000499119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,389,784 - 197,420,493 (-)NCBI
RefSeq Acc Id: XM_047443839   ⟹   XP_047299795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,389,784 - 197,420,320 (-)NCBI
RefSeq Acc Id: XM_047443840   ⟹   XP_047299796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,398,511 - 197,435,093 (-)NCBI
RefSeq Acc Id: XM_047443841   ⟹   XP_047299797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382197,418,515 - 197,435,093 (-)NCBI
RefSeq Acc Id: XM_054341208   ⟹   XP_054197183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02197,873,439 - 197,904,135 (-)NCBI
RefSeq Acc Id: XM_054341209   ⟹   XP_054197184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02197,873,439 - 197,904,021 (-)NCBI
RefSeq Acc Id: XM_054341210   ⟹   XP_054197185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02197,882,172 - 197,918,732 (-)NCBI
RefSeq Acc Id: XM_054341211   ⟹   XP_054197186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02197,902,161 - 197,918,732 (-)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  
  XP_054197183 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197184 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197185 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197186 (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  
Ensembl Protein ENSP00000335321
  ENSP00000335321.6
  ENSP00000392117.1
  ENSP00000402997
  ENSP00000402997.2
  ENSP00000409435.1
  ENSP00000419896
  ENSP00000419896.1
  ENSP00000428820
  ENSP00000428820.1
  ENSP00000498652.1
  ENSP00000499119.1
GenBank Protein 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  
RefSeq Acc Id: NP_036565   ⟸   NM_012433
- Peptide Label: isoform 1
- UniProtKB: E9PCH3 (UniProtKB/Swiss-Prot),   O75533 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001005526   ⟸   NM_001005526
- Peptide Label: isoform 2
- UniProtKB: A8K355 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295753   ⟸   NM_001308824
- Peptide Label: isoform 3
- UniProtKB: B4DGZ4 (UniProtKB/TrEMBL),   A8K355 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000409435   ⟸   ENST00000424674
Ensembl Acc Id: ENSP00000335321   ⟸   ENST00000335508
Ensembl Acc Id: ENSP00000392117   ⟸   ENST00000414174
Ensembl Acc Id: ENSP00000402997   ⟸   ENST00000414963
Ensembl Acc Id: ENSP00000498652   ⟸   ENST00000652026
Ensembl Acc Id: ENSP00000499119   ⟸   ENST00000652738
Ensembl Acc Id: ENSP00000419896   ⟸   ENST00000487698
Ensembl 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
RefSeq Acc Id: XP_054197183   ⟸   XM_054341208
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197184   ⟸   XM_054341209
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197185   ⟸   XM_054341210
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197186   ⟸   XM_054341211
- Peptide Label: isoform X3
Protein Domains
Splicing factor 3B subunit

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 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
  PP2A/SF3B1-like_HEAT 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
PANTHER PTHR12097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPLICING FACTOR 3B SUBUNIT 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PPP2R1A-like_HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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
  A8K355 ENTREZGENE, 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  SF3B1  splicing factor 3b, subunit 1, 155kDa  Symbol and/or name change 5135510 APPROVED