chr1:43337818:> Detail (hg38) (MPL)

Information

Genome

Assembly Position
hg19 chr1:43,803,489-43,820,137 
hg38 chr1:43,337,818-43,354,466

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 NA BeFree Detail
<0.001 Constitutional Symptom NA BeFree Detail
<0.001 Down syndrome NA BeFree Detail
0.080 Fibrosis NA RGD Detail
0.051 Primary myelofibrosis Histopathological categories ET and prefibrotic PMF correlate with significant d... BeFree 19616600 Detail
<0.001 anemia When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, t... BeFree 17408465 Detail
0.289 Thrombocythemia, Essential The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W5... BeFree 17920754 Detail
0.008 Chronic myeloproliferative disorder Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that ... BeFree 18479730 Detail
0.139 thrombocytosis In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.146 polycythemia vera In a group of 36 Mexican mestizo patients with MPN, we studied five molecular ma... BeFree 19843380 Detail
0.289 Thrombocythemia, Essential JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocy... BeFree 20890078 Detail
0.289 Thrombocythemia, Essential Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MP... BeFree 21228032 Detail
0.003 Hemorrhage NA LHGDN Detail
<0.001 Infection of kidney Vaccination with MrpH·FimH alone or in combination with MPL showed the highest e... BeFree 25562574 Detail
<0.001 influenza NA BeFree Detail
<0.001 leishmaniasis NA BeFree Detail
0.005 leukemia NA BeFree,LHGDN Detail
<0.001 lymphoid leukemia NA BeFree Detail
0.003 Acute Megakaryocytic Leukemias NA BeFree,GAD Detail
0.002 Leukemia, Myelocytic, Acute NA BeFree Detail
0.003 Myeloid Leukemia, Chronic NA BeFree,GAD Detail
<0.001 leukopenia NA BeFree Detail
<0.001 Lung Neoplasms NA BeFree Detail
0.120 medulloblastoma NA CTD_human Detail
<0.001 melanoma NA BeFree Detail
0.364 myelofibrosis As such, CALR first, followed by MPL if CALR is absent, mutation screening is ap... BeFree,CLINVAR,ORPHANET,UNIPROT 26355403 Detail
0.002 Pancreatic Neoplasm NA GAD Detail
<0.001 pancytopenia NA BeFree Detail
0.002 Philadelphia Chromosome NA GAD Detail
<0.001 polycythemia NA BeFree Detail
0.146 polycythemia vera NA BeFree,GAD,LHGDN,ORPHANET Detail
<0.001 Preleukemia NA BeFree Detail
<0.001 Pruritus NA BeFree Detail
<0.001 pyelonephritis Vaccination with MrpH·FimH alone or in combination with MPL showed the highest e... BeFree 25562574 Detail
0.091 thrombocytopenia NA LHGDN,RGD Detail
0.005 thrombosis NA LHGDN Detail
<0.001 urinary tract infection Intranasal immunization with fusion protein MrpH·FimH and MPL adjuvant confers p... BeFree 25562574 Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
<0.001 thrombocytopenia-absent radius syndrome NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 Acute panmyelosis with myelofibrosis In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential th... BeFree 25873496 Detail
<0.001 Hematologic Neoplasms With the discoveries of underlying mutations in JAK2, MPL, and, most recently, c... BeFree 25696868 Detail
<0.001 Immune thrombocytopenic purpura NA BeFree Detail
<0.001 Blast cell proliferation NA BeFree Detail
<0.001 Malignant glioma NA BeFree Detail
0.005 leukemia Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL)... BeFree 21326037 Detail
0.051 Primary myelofibrosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.051 Primary myelofibrosis In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticu... BeFree 24895336 Detail
0.051 Primary myelofibrosis We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
0.289 Thrombocythemia, Essential Molecular profiling must include the analysis of JAK2 (looking for the V617F poi... BeFree 25189723 Detail
0.289 Thrombocythemia, Essential Recently, it has become clear that patients meeting WHO criteria for RARS-T have... BeFree 19120370 Detail
0.289 Thrombocythemia, Essential In a retrospective study, we examined the frequency of MPL and CALR mutations in... BeFree 25934766 Detail
0.364 myelofibrosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.051 Primary myelofibrosis Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have bee... BeFree 21228032 Detail
0.146 polycythemia vera JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featur... BeFree 25116092 Detail
0.051 Primary myelofibrosis Frequency and allele burden of CALR mutations in Chinese with essential thromboc... BeFree 25746303 Detail
0.289 Thrombocythemia, Essential We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.289 Thrombocythemia, Essential Calreticulin mutations (CALR(MUT)) are found in a significant proportion of pati... BeFree 25139350 Detail
<0.001 polycythemia Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.008 Chronic myeloproliferative disorder Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and ... BeFree 23057517 Detail
0.051 Primary myelofibrosis Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positi... BeFree 25116092 Detail
0.008 Chronic myeloproliferative disorder These findings suggest that MPL mutation screening should be performed before JA... BeFree 21326037 Detail
0.037 Myeloproliferative disease We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.008 Chronic myeloproliferative disorder We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (... BeFree 25746303 Detail
0.146 polycythemia vera We have studied the mutational status of TET2 (complete coding region), ASXL1 (e... BeFree 21904853 Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 Erythrocytosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.037 Myeloproliferative disease Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and ... BeFree 23057517 Detail
0.139 thrombocytosis Given their diagnostic relevance, it is also beneficial and relatively straightf... BeFree 23057517 Detail
0.139 thrombocytosis Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequen... BeFree,CTD_human,GAD,LHGDN 25195195 Detail
<0.001 ovarian neoplasm NA BeFree Detail
<0.001 Refractory anemia with ringed sideroblasts NA BeFree Detail
<0.001 Tumor Immunity NA BeFree Detail
<0.001 Erythrocytosis NA BeFree Detail
<0.001 MYELOPROLIFERATIVE SYNDROME, TRANSIENT NA BeFree Detail
<0.001 SEBASTIAN SYNDROME NA BeFree Detail
<0.001 myeloid neoplasm NA BeFree Detail
0.120 Thrombocythemia 2 NA UNIPROT Detail
<0.001 myelodysplastic syndrome NA BeFree Detail
0.003 Infection NA LHGDN Detail
<0.001 anemia NA BeFree Detail
<0.001 aplastic anemia NA BeFree Detail
0.007 Blast Phase NA BeFree,GAD Detail
<0.001 Blood Platelet Disorders NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Histopathological categories ET and prefibrotic PMF correlate with significant differences in mutant... DisGeNET Detail
When compared with MPL wild-type patients, irrespective of JAK2(V617F) status, those with MPL(W515L/... DisGeNET Detail
The Janus kinase 2 mutation, JAK2 (V617F), and megakaryocytic mutations, MPL (W515L/K), have been id... DisGeNET Detail
Phospho-STAT5 expression pattern with the MPL W515L mutation is similar to that seen in chronic myel... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 ... DisGeNET Detail
JAK2 V617F and MPL W515L/K mutations in Korean patients with essential thrombocythemia. DisGeNET Detail
Only one patient with essential thrombocythemia carried both JAK2 (V617F) and MPL (W515L). DisGeNET Detail
NA DisGeNET Detail
Vaccination with MrpH·FimH alone or in combination with MPL showed the highest efficiency in clearin... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
As such, CALR first, followed by MPL if CALR is absent, mutation screening is appropriate in the dia... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Vaccination with MrpH·FimH alone or in combination with MPL showed the highest efficiency in clearin... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Intranasal immunization with fusion protein MrpH·FimH and MPL adjuvant confers protection against ur... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
In total, 199 patients with MPN (54 primary myelofibrosis [PMF], 79 essential thrombocythemia [ET], ... DisGeNET Detail
With the discoveries of underlying mutations in JAK2, MPL, and, most recently, calreticulin (CALR), ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Mutations in the thrombopoietin receptor gene (myeloproliferative leukemia, MPL) have been reported ... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
In essential thrombocythemia, 154 (53%) Janus kinase 2 V617F, 96 (33%) calreticulin, 9 (3%) myelopro... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
Molecular profiling must include the analysis of JAK2 (looking for the V617F point-mutation in PV an... DisGeNET Detail
Recently, it has become clear that patients meeting WHO criteria for RARS-T have clonal JAK2(V617F) ... DisGeNET Detail
In a retrospective study, we examined the frequency of MPL and CALR mutations in JAK2 V617F-negative... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Somatic mutations of MPL exon 10, mainly involving a W515 substitution, have been described in JAK2 ... DisGeNET Detail
JAK2/MPL wild-type, CALR mutated hypercellular ET associated with PMGM is featured by dense clustere... DisGeNET Detail
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary ... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
Calreticulin mutations (CALR(MUT)) are found in a significant proportion of patients with essential ... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and other pathogenetic m... DisGeNET Detail
Four main molecular types of clonal MPN can be distinguished: JAK2(V617F)-positive ET and PV; JAK2 w... DisGeNET Detail
These findings suggest that MPL mutation screening should be performed before JAK2 exons 12 to 14 te... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
We studied 1088 Chinese with diverse myeloproliferative neoplasms including ET (N=234) and PMF (N=50... DisGeNET Detail
We have studied the mutational status of TET2 (complete coding region), ASXL1 (exon12), IDH1 (R132),... DisGeNET Detail
NA DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G&gt;T) and other pathogenetic m... DisGeNET Detail
Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK... DisGeNET Detail
Recently, germline mutations in Janus kinase 2 (JAK2) and MPL, two genes frequently mutated in spora... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA 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
chr1:43,337,818-43,354,466
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2389
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