chrX:100604326:> Detail (hg19) (BTK)

Information

Genome

Assembly Position
hg19 chrX:100,604,326-100,645,784
hg38 chrX:101,349,338-101,390,796 

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
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic lymphocytic leukemia B Prognostic Supports Poor Outcome Somatic 4 28418267 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 colitis Colitis was induced in wild type and Btk-/- mice by treatment with dextran sodiu... BeFree 25379804 Detail
0.001 common variable immunodeficiency NA BeFree Detail
<0.001 Pituitary dwarfism NA BeFree Detail
<0.001 Dystonia Musculorum Deformans NA BeFree Detail
<0.001 glioblastoma NA BeFree Detail
0.120 IgA glomerulonephritis NA CTD_human Detail
<0.001 Herpes Simplex Infections NA BeFree Detail
0.002 HIV Infections NA GAD Detail
0.003 Immunologic Deficiency Syndromes NA BeFree,GAD Detail
<0.001 leukemia NA BeFree Detail
0.004 chronic lymphocytic leukemia These include the antibody obintutuzumab (GA-101), as well as small-molecule inh... BeFree 24857119 Detail
0.004 chronic lymphocytic leukemia We previously reported the identification of BTK(C481S) mutation in a CLL patien... BeFree 25189416 Detail
0.004 chronic lymphocytic leukemia The Bruton tyrosine kinase inhibitor (BTKi) ibrutinib is a new targeted therapy ... BeFree 25201956 Detail
0.004 chronic lymphocytic leukemia These results reported here provide a molecular mechanistic rationale for clinic... BeFree 25294819 Detail
0.004 chronic lymphocytic leukemia BRAF inhibitor-driven ERK activity and CLL proliferation required B cell antigen... BeFree 25329694 Detail
0.004 chronic lymphocytic leukemia Expression of functional sphingosine-1 phosphate receptor-1 is reduced by B cell... BeFree 25632006 Detail
0.004 chronic lymphocytic leukemia More recently, point mutations conferring resistance to the Bruton tyrosine kina... BeFree 25795921 Detail
0.004 chronic lymphocytic leukemia Ibrutinib is an orally bioavailable and highly specific BTK inhibitor that was r... BeFree 25858358 Detail
0.004 chronic lymphocytic leukemia Global gene expression profiles from a 337-patient set linked EVI1 networks to B... BeFree 25936528 Detail
0.004 chronic lymphocytic leukemia Irreversible inhibition of Bruton's tyrosine kinase (BTK) by ibrutinib represent... BeFree 26641137 Detail
<0.001 hairy cell leukemia NA BeFree Detail
<0.001 Leukemia, Myelocytic, Acute Here we show that SDF-1 induces BTK phosphorylation and downstream MAPK signalli... BeFree 25294819 Detail
<0.001 leukopenia NA BeFree Detail
<0.001 lymphoma Herein, we further characterized the functional consequences of BTK(C481S) in te... BeFree 25189416 Detail
<0.001 lymphoma More recently, point mutations conferring resistance to the Bruton tyrosine kina... BeFree 25795921 Detail
<0.001 Lymphoma, Non-Hodgkin Ibrutinib is a potent, selective BTK inhibitor that has shown significant activi... BeFree 25670208 Detail
0.002 Lymphoproliferative Disorders NA GAD Detail
<0.001 Waldenstrom Macroglobulinemia NA BeFree Detail
0.002 multiple myeloma Our findings highlight intratumoral heterogeneity of myeloma cells in the bone m... BeFree 25083818 Detail
0.002 multiple myeloma It has previously been shown that SDF1/CXCR4-induced migration is dependent on a... BeFree 25294819 Detail
0.002 multiple myeloma Bruton tyrosine kinase is a therapeutic target in stem-like cells from multiple ... BeFree 25589346 Detail
<0.001 Neoplasm Metastasis Role of Bruton's tyrosine kinase (BTK) in growth and metastasis of INA6 myeloma ... BeFree 25083818 Detail
<0.001 neutropenia NA BeFree Detail
<0.001 pyoderma NA BeFree Detail
<0.001 Respiratory Distress Syndrome, Adult NA BeFree Detail
<0.001 B-Cell Lymphomas Bruton's tyrosine kinase inhibitors in B-cell non-Hodgkin's lymphomas. BeFree 25670208 Detail
<0.001 diffuse large B-cell lymphoma Synergistic induction of apoptosis by combination of BTK and dual mTORC1/2 inhib... BeFree 24970801 Detail
<0.001 diffuse large B-cell lymphoma Pharmacological inhibition with ibrutinib of Bruton's tyrosine kinase, a kinase ... BeFree 25805587 Detail
<0.001 diffuse large B-cell lymphoma Pharmacological or dominant-negative JNK inhibition restricts DLBCL survival in ... BeFree 25847947 Detail
<0.001 Lymphoma, Large-Cell, Follicular Ibrutinib is a potent, selective BTK inhibitor that has shown significant activi... BeFree 25670208 Detail
0.002 severe combined immunodeficiency NA GAD Detail
0.001 Hypogammaglobulinemia NA BeFree Detail
0.590 X-linked agammaglobulinemia Administration of the 25-mer antisense morpholino oligonucleotide analog in the ... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 24658450 Detail
0.590 X-linked agammaglobulinemia A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese famil... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25316352 Detail
0.590 X-linked agammaglobulinemia X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutati... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25589397 Detail
0.590 X-linked agammaglobulinemia X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number ... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25591849 Detail
0.590 X-linked agammaglobulinemia X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused b... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25638286 Detail
0.590 X-linked agammaglobulinemia A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglo... BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT 25680287 Detail
0.120 X-linked hypogammaglobulinemia NA CLINVAR Detail
<0.001 Somatotropin deficiency NA BeFree Detail
0.590 X-linked agammaglobulinemia Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in t... UNIPROT 10678660 Detail
0.002 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse The Bruton tyrosine kinase (BTK) inhibitor, ibrutinib, has produced remarkable c... BeFree 25189416 Detail
0.002 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse Interestingly, targeting BTK and SYK prevented and inhibited BCR-induced MCL cel... BeFree 25388373 Detail
0.002 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse Biological rational for sequential targeting of Bruton tyrosine kinase and Bcl-2... BeFree 25797245 Detail
0.002 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse Ibrutinib is an orally bioavailable and highly specific BTK inhibitor that was r... BeFree 25858358 Detail
0.002 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse At the time of relapse, agents directed at activated pathways in MCL cells such ... BeFree 26103436 Detail
<0.001 Hematologic Neoplasms Bruton's tyrosine kinase (BTK) and the chemokine receptor CXCR4 are linked in va... BeFree 25083818 Detail
0.003 Primary immune deficiency disorder X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutati... BeFree 25589397 Detail
0.003 Primary immune deficiency disorder X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused b... BeFree 25638286 Detail
0.003 Primary immune deficiency disorder Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA), a primary imm... BeFree 25680287 Detail
<0.001 Leukemogenesis This study suggests that the alterations of BTK and MLL2 synergistically functio... BeFree 25591849 Detail
<0.001 MOHR-TRANEBJAERG SYNDROME NA BeFree Detail
<0.001 Recurrent Chronic Lymphoid Leukemia In this study, the selective BTK inhibitor acalabrutinib had promising safety an... BeFree 26641137 Detail
0.002 Precursor B-cell lymphoblastic leukemia X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number ... BeFree 25591849 Detail
<0.001 Aggressive Non-Hodgkin Lymphoma NA BeFree Detail
<0.001 Xenograft Model Simultaneous inhibition of BTK and mTOR causes apoptosis both in vitro and in vi... BeFree 24970801 Detail
0.001 Recurrent bacterial infection NA BeFree Detail
<0.001 Recurrent infections (sinusitis and bacterial pneumonia and meningitis) NA BeFree Detail
0.003 Precursor Cell Lymphoblastic Leukemia Lymphoma NA LHGDN Detail
0.005 myelodysplastic syndrome NA GAD,LHGDN Detail
<0.001 Isolated somatotropin deficiency NA BeFree Detail
0.142 agammaglobulinemia NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Fabry disease NA BeFree Detail
<0.001 Behcet Syndrome The diminished KRECs was in SCID (4/8), CID (4/4), CVID (7/7), Bruton's tyrosine... BeFree 25109505 Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
A patient cohort of 308 individuals was created from trails of Ibrutinib in CLL (see Maddocks 2015 P... CIViC Evidence Detail
Colitis was induced in wild type and Btk-/- mice by treatment with dextran sodium sulfate (DSS) and ... 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
These include the antibody obintutuzumab (GA-101), as well as small-molecule inhibitors of key pathw... DisGeNET Detail
We previously reported the identification of BTK(C481S) mutation in a CLL patient who progressed fol... DisGeNET Detail
The Bruton tyrosine kinase inhibitor (BTKi) ibrutinib is a new targeted therapy for patients with ch... DisGeNET Detail
These results reported here provide a molecular mechanistic rationale for clinically evaluating BTK ... DisGeNET Detail
BRAF inhibitor-driven ERK activity and CLL proliferation required B cell antigen receptor (BCR) acti... DisGeNET Detail
Expression of functional sphingosine-1 phosphate receptor-1 is reduced by B cell receptor signaling ... DisGeNET Detail
More recently, point mutations conferring resistance to the Bruton tyrosine kinase inhibitor ibrutin... DisGeNET Detail
Ibrutinib is an orally bioavailable and highly specific BTK inhibitor that was recently approved for... DisGeNET Detail
Global gene expression profiles from a 337-patient set linked EVI1 networks to BCR signaling and cel... DisGeNET Detail
Irreversible inhibition of Bruton's tyrosine kinase (BTK) by ibrutinib represents an important thera... DisGeNET Detail
NA DisGeNET Detail
Here we show that SDF-1 induces BTK phosphorylation and downstream MAPK signalling in primary AML bl... DisGeNET Detail
NA DisGeNET Detail
Herein, we further characterized the functional consequences of BTK(C481S) in terms of molecular sig... DisGeNET Detail
More recently, point mutations conferring resistance to the Bruton tyrosine kinase inhibitor ibrutin... DisGeNET Detail
Ibrutinib is a potent, selective BTK inhibitor that has shown significant activity in specific subty... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our findings highlight intratumoral heterogeneity of myeloma cells in the bone marrow microenvironme... DisGeNET Detail
It has previously been shown that SDF1/CXCR4-induced migration is dependent on activation of downstr... DisGeNET Detail
Bruton tyrosine kinase is a therapeutic target in stem-like cells from multiple myeloma. DisGeNET Detail
Role of Bruton's tyrosine kinase (BTK) in growth and metastasis of INA6 myeloma cells. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Bruton's tyrosine kinase inhibitors in B-cell non-Hodgkin's lymphomas. DisGeNET Detail
Synergistic induction of apoptosis by combination of BTK and dual mTORC1/2 inhibitors in diffuse lar... DisGeNET Detail
Pharmacological inhibition with ibrutinib of Bruton's tyrosine kinase, a kinase that is required for... DisGeNET Detail
Pharmacological or dominant-negative JNK inhibition restricts DLBCL survival in vitro and in vivo an... DisGeNET Detail
Ibrutinib is a potent, selective BTK inhibitor that has shown significant activity in specific subty... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Administration of the 25-mer antisense morpholino oligonucleotide analog in the patient's cultured p... DisGeNET Detail
A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agam... DisGeNET Detail
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in Bruton's tyro... DisGeNET Detail
X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number of peripheral B cell... DisGeNET Detail
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the g... DisGeNET Detail
A novel BTK gene mutation creates a de-novo splice site in an X-linked agammaglobulinemia patient. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. DisGeNET Detail
The Bruton tyrosine kinase (BTK) inhibitor, ibrutinib, has produced remarkable clinical response in ... DisGeNET Detail
Interestingly, targeting BTK and SYK prevented and inhibited BCR-induced MCL cell adhesion to human ... DisGeNET Detail
Biological rational for sequential targeting of Bruton tyrosine kinase and Bcl-2 to overcome CD40-in... DisGeNET Detail
Ibrutinib is an orally bioavailable and highly specific BTK inhibitor that was recently approved for... DisGeNET Detail
At the time of relapse, agents directed at activated pathways in MCL cells such as bortezomib (NFkB ... DisGeNET Detail
Bruton's tyrosine kinase (BTK) and the chemokine receptor CXCR4 are linked in various hematologic ma... DisGeNET Detail
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in Bruton's tyro... DisGeNET Detail
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disease caused by mutations in the g... DisGeNET Detail
Mutations in the BTK gene cause X-linked agammaglobulinemia (XLA), a primary immunodeficiency with c... DisGeNET Detail
This study suggests that the alterations of BTK and MLL2 synergistically function as leukemogenesis. DisGeNET Detail
NA DisGeNET Detail
In this study, the selective BTK inhibitor acalabrutinib had promising safety and efficacy profiles ... DisGeNET Detail
X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number of peripheral B cell... DisGeNET Detail
NA DisGeNET Detail
Simultaneous inhibition of BTK and mTOR causes apoptosis both in vitro and in vivo and results in tu... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The diminished KRECs was in SCID (4/8), CID (4/4), CVID (7/7), Bruton's tyrosine kinase mutation (Bt... 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
rs28935176 dbSNP
Genome
hg19
Position
chrX:100,604,326-100,645,784
Variant Type
snv
Variant (CIViC) (CIViC Variant)
MUTATION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2169
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