chr11:66052331:> Detail (hg38)

Information

Genome

Assembly Position
hg19 chr11:65,819,802-65,836,779 
hg38 chr11:66,052,331-66,069,308

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Congenital chromosomal disease The expression of unmutated immunoglobulin heavy chain variable region (IGHV) ge... BeFree 25563586 Detail
<0.001 Heart Diseases HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease. BeFree 26083752 Detail
0.007 chronic lymphocytic leukemia Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (... BeFree 24943832 Detail
0.007 chronic lymphocytic leukemia We examined the significance of IgM peaks in chronic lymphocytic leukemia (CLL),... BeFree 24943833 Detail
0.007 chronic lymphocytic leukemia From pioneering studies, we know that certain genetic events are found in the ma... BeFree 25345442 Detail
0.007 chronic lymphocytic leukemia The impact of SF3B1 mutations in CLL on the DNA-damage response. BeFree 25371178 Detail
0.007 chronic lymphocytic leukemia Although TP53, NOTCH1, and SF3B1 mutations may impair prognosis of patients with... BeFree 26316624 Detail
0.001 Leukemia, Myelocytic, Acute Results confirm high frequencies of RAS and other activated signaling mutations ... BeFree 25331116 Detail
0.001 Leukemia, Myelomonocytic, Chronic NA BeFree Detail
<0.001 Lymphocytosis By multivariate analysis, IgM peaks were associated with shorter treatment-free ... BeFree 24943833 Detail
<0.001 lymphoma NA BeFree Detail
0.001 melanoma Rare SF3B1 R625 mutations in cutaneous melanoma. BeFree 24709888 Detail
<0.001 Monosomy NA BeFree Detail
0.001 Myelodysplasia NA BeFree Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
0.003 Preleukemia Disruption of SF3B1 results in deregulated expression and splicing of key genes ... BeFree 25428262 Detail
0.003 Preleukemia By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely asso... BeFree 25732814 Detail
0.003 Preleukemia SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with rin... BeFree 25957392 Detail
<0.001 Cutaneous Melanoma Rare SF3B1 R625 mutations in cutaneous melanoma. BeFree 24709888 Detail
0.002 uveal melanoma SF3B1 missense mutations were found in the two UMs with no BAP1 mutations. BeFree 25361747 Detail
0.002 uveal melanoma Using transcriptome sequencing data from chronic lymphocytic leukemia, breast ca... BeFree 25768983 Detail
<0.001 Chronic lymphocytic leukaemia refractory NA BeFree Detail
<0.001 Cancer of Head and Neck Regulation of HPV16 E6 and MCL1 by SF3B1 inhibitor in head and neck cancer cells... BeFree 25139387 Detail
<0.001 Iron Overload Our studies suggest that SF3B1 mutations contribute to cellular iron overload in... BeFree 24854990 Detail
<0.001 Richter's syndrome NA BeFree Detail
<0.001 Malignant neoplasm of prostate NA BeFree Detail
<0.001 Hematopoietic Neoplasms NA BeFree Detail
<0.001 Hematologic Neoplasms NA BeFree Detail
<0.001 Leukemogenesis NA BeFree Detail
0.002 Refractory anemia, without ringed sideroblasts, without excess blasts Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
<0.001 Progressive Neoplastic Disease Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunc... BeFree 25696844 Detail
<0.001 breast carcinoma SF3B1 mutations constitute a novel therapeutic target in breast cancer. BeFree 25424858 Detail
<0.001 thrombocytosis Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
0.002 Refractory anemias Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for surviva... BeFree 23594705 Detail
<0.001 Chromosome 12, 12p trisomy NOTCH1 mutations correlated with a shorter treatment-free interval (p = 0.058), ... BeFree 24597984 Detail
<0.001 thrombocytosis Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5... BeFree 25481243 Detail
<0.001 myocardial hypoxia Here we show that myocardial hypoxia actuates fructose metabolism in human and m... BeFree 26083752 Detail
<0.001 Refractory anemia with ringed sideroblasts NA BeFree Detail
<0.001 Myelodysplastic-Myeloproliferative Diseases NA BeFree Detail
<0.001 Refractory anemia with excess blasts I NA BeFree Detail
0.002 Refractory anemia, without ringed sideroblasts, without excess blasts The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplast... BeFree 25428262 Detail
0.002 myelodysplastic syndrome Disruption of SF3B1 results in deregulated expression and splicing of key genes ... BeFree 25428262 Detail
0.002 myelodysplastic syndrome By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely asso... BeFree 25732814 Detail
0.002 myelodysplastic syndrome SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with rin... BeFree 25957392 Detail
<0.001 Progressive cGVHD Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunc... BeFree 25696844 Detail
<0.001 RETINOSCHISIS 1, X-LINKED, JUVENILE NA BeFree Detail
<0.001 Anemia, Macrocytic Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5... BeFree 25481243 Detail
0.002 Refractory anemias The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplast... BeFree 25428262 Detail
<0.001 Malignant neoplasm of breast SF3B1 mutations constitute a novel therapeutic target in breast cancer. BeFree 25424858 Detail
<0.001 mucinous adenocarcinoma Additional profiling of hotspot mutations in a panel of special histological sub... BeFree 25424858 Detail
Annotation

Annotations

DescrptionSourceLinks
The expression of unmutated immunoglobulin heavy chain variable region (IGHV) genes, ZAP-70 and CD38... DisGeNET Detail
HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease. DisGeNET Detail
Through the European Research Initiative on chronic lymphocytic leukemia (CLL) (ERIC), we screened 3... DisGeNET Detail
We examined the significance of IgM peaks in chronic lymphocytic leukemia (CLL), including its assoc... DisGeNET Detail
From pioneering studies, we know that certain genetic events are found in the majority of chronic ly... DisGeNET Detail
The impact of SF3B1 mutations in CLL on the DNA-damage response. DisGeNET Detail
Although TP53, NOTCH1, and SF3B1 mutations may impair prognosis of patients with chronic lymphocytic... DisGeNET Detail
Results confirm high frequencies of RAS and other activated signaling mutations (10/12 AMLs) and ide... DisGeNET Detail
NA DisGeNET Detail
By multivariate analysis, IgM peaks were associated with shorter treatment-free survival independent... DisGeNET Detail
NA DisGeNET Detail
Rare SF3B1 R625 mutations in cutaneous melanoma. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myel... DisGeNET Detail
By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely associated with the myel... DisGeNET Detail
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. DisGeNET Detail
Rare SF3B1 R625 mutations in cutaneous melanoma. DisGeNET Detail
SF3B1 missense mutations were found in the two UMs with no BAP1 mutations. DisGeNET Detail
Using transcriptome sequencing data from chronic lymphocytic leukemia, breast cancer and uveal melan... DisGeNET Detail
NA DisGeNET Detail
Regulation of HPV16 E6 and MCL1 by SF3B1 inhibitor in head and neck cancer cells. DisGeNET Detail
Our studies suggest that SF3B1 mutations contribute to cellular iron overload in RARS/-T by deregula... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunctional mutations of ... DisGeNET Detail
SF3B1 mutations constitute a novel therapeutic target in breast cancer. DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
Age, JAK2(V617F) and SF3B1 mutations are the main predicting factors for survival in refractory anae... DisGeNET Detail
NOTCH1 mutations correlated with a shorter treatment-free interval (p = 0.058), an unmutated immunog... DisGeNET Detail
Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5 ± 1.7 vs 7.2 ± 1.0)... DisGeNET Detail
Here we show that myocardial hypoxia actuates fructose metabolism in human and mouse models of patho... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), p... DisGeNET Detail
Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myel... DisGeNET Detail
By contrast, mutations affecting spliceosome genes SF3B1 and SRSF2, closely associated with the myel... DisGeNET Detail
SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. DisGeNET Detail
Acquired defects in the p53 pathway, activating mutations of NOTCH1, and dysfunctional mutations of ... DisGeNET Detail
NA DisGeNET Detail
Sf3b1 (+/-) exhibited macrocytic anemia (MCV: 49.5 ± 1.6 vs 47.2 ± 1.4; Hgb: 5.5 ± 1.7 vs 7.2 ± 1.0)... DisGeNET Detail
The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), p... DisGeNET Detail
SF3B1 mutations constitute a novel therapeutic target in breast cancer. DisGeNET Detail
Additional profiling of hotspot mutations in a panel of special histological subtypes of breast canc... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs386626619 dbSNP
Genome
hg38
Position
chr11:66,052,331-66,069,308
Variant Type
snv
Genome browser