MASTL (microtubule associated serine/threonine kinase like) - Rat Genome Database

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Gene: MASTL (microtubule associated serine/threonine kinase like) Homo sapiens
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Symbol: MASTL
Name: microtubule associated serine/threonine kinase like
RGD ID: 1319386
HGNC Page HGNC:19042
Description: Enables protein serine/threonine kinase activity. Involved in G2/M transition of mitotic cell cycle and regulation of cell cycle. Located in centrosome; cleavage furrow; and nucleoplasm. Implicated in thrombocytopenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ14813; GREATWALL; greatwall kinase homolog; greatwall protein kinase; GW; GWL; hGWL; MAST-L; microtubule associated serine/threonine kinase-like; microtubule-associated serine/threonine-protein kinase-like; RP11-85G18.2; serine/threonine-protein kinase greatwall; THC2; thrombocytopenia 2 (autosomal dominant)
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
GRCh381027,154,479 - 27,187,953 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1027,154,824 - 27,187,953 (+)EnsemblGRCh38hg38GRCh38
GRCh371027,444,281 - 27,476,882 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361027,484,298 - 27,515,854 (+)NCBINCBI36Build 36hg18NCBI36
Build 341027,484,297 - 27,515,854NCBI
Celera1027,160,210 - 27,192,290 (+)NCBICelera
Cytogenetic Map10p12.1NCBI
HuRef1027,112,454 - 27,144,522 (+)NCBIHuRef
CHM1_11027,443,697 - 27,475,780 (+)NCBICHM1_1
T2T-CHM13v2.01027,184,483 - 27,217,949 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. Gandhi MJ, etal., Hum Hered. 2003;55(1):66-70.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8125298   PMID:10521306   PMID:10891439   PMID:12477932   PMID:14702039   PMID:15164054   PMID:15489334   PMID:16344560   PMID:16385451   PMID:16964243   PMID:19416867   PMID:20360068  
PMID:20538976   PMID:20818157   PMID:21444715   PMID:21873635   PMID:22102272   PMID:22412018   PMID:23455922   PMID:23861665   PMID:24391510   PMID:25373736   PMID:25472593   PMID:25659891  
PMID:25808837   PMID:26186194   PMID:26354767   PMID:26496610   PMID:26613407   PMID:26616283   PMID:26638075   PMID:26653855   PMID:26872783   PMID:26923777   PMID:26972000   PMID:28514442  
PMID:28605876   PMID:28883622   PMID:29229993   PMID:29395067   PMID:29743597   PMID:29764989   PMID:30033366   PMID:30068336   PMID:30445205   PMID:30575818   PMID:31478661   PMID:31617661  
PMID:32123010   PMID:32311005   PMID:32692487   PMID:32707033   PMID:33582914   PMID:33627787   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34331012   PMID:34672954   PMID:34795231  
PMID:35013556   PMID:35439318   PMID:35563538   PMID:35732702   PMID:36089195   PMID:36114006   PMID:36724073   PMID:37689310   PMID:37827155   PMID:38943005  


Genomics

Comparative Map Data
MASTL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381027,154,479 - 27,187,953 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1027,154,824 - 27,187,953 (+)EnsemblGRCh38hg38GRCh38
GRCh371027,444,281 - 27,476,882 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361027,484,298 - 27,515,854 (+)NCBINCBI36Build 36hg18NCBI36
Build 341027,484,297 - 27,515,854NCBI
Celera1027,160,210 - 27,192,290 (+)NCBICelera
Cytogenetic Map10p12.1NCBI
HuRef1027,112,454 - 27,144,522 (+)NCBIHuRef
CHM1_11027,443,697 - 27,475,780 (+)NCBICHM1_1
T2T-CHM13v2.01027,184,483 - 27,217,949 (+)NCBIT2T-CHM13v2.0
Mastl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39223,006,549 - 23,046,036 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl223,005,618 - 23,046,036 (-)EnsemblGRCm39 Ensembl
GRCm38223,116,539 - 23,156,024 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl223,115,606 - 23,156,024 (-)EnsemblGRCm38mm10GRCm38
MGSCv37222,972,064 - 23,011,544 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36222,940,074 - 22,977,925 (-)NCBIMGSCv36mm8
Celera222,848,204 - 22,887,677 (-)NCBICelera
Cytogenetic Map2A3NCBI
cM Map215.23NCBI
Mastl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81790,158,592 - 90,195,550 (-)NCBIGRCr8
mRatBN7.21785,250,512 - 85,287,479 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1785,251,997 - 85,287,353 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1788,736,222 - 88,771,568 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01792,571,598 - 92,606,946 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01786,588,377 - 86,623,723 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01789,839,562 - 89,875,855 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1789,742,140 - 89,876,825 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01791,504,296 - 91,540,607 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41796,722,615 - 96,757,971 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11796,733,772 - 96,751,272 (-)NCBI
Celera1783,608,795 - 83,644,003 (+)NCBICelera
Cytogenetic Map17q12.3NCBI
Mastl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554292,591,203 - 2,617,784 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554292,591,173 - 2,617,084 (+)NCBIChiLan1.0ChiLan1.0
MASTL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2839,783,630 - 39,816,414 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11039,788,957 - 39,821,737 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01027,264,475 - 27,296,085 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11027,626,892 - 27,658,180 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1027,626,892 - 27,658,180 (+)Ensemblpanpan1.1panPan2
MASTL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.126,829,309 - 6,863,876 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl26,830,168 - 6,863,568 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha25,582,408 - 5,616,987 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.025,018,871 - 5,053,474 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl25,019,818 - 5,053,476 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.124,395,980 - 4,430,831 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.024,472,486 - 4,507,336 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.024,639,192 - 4,673,999 (+)NCBIUU_Cfam_GSD_1.0
Mastl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934426,109,771 - 26,141,730 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364842,276,744 - 2,306,035 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364842,276,463 - 2,306,119 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MASTL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1048,856,072 - 48,880,475 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11048,855,895 - 48,877,504 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21054,162,099 - 54,186,773 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MASTL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1926,752,354 - 26,786,802 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl926,753,331 - 26,787,019 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605132,761,322 - 32,796,246 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mastl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247962,216,034 - 2,243,962 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247962,215,951 - 2,244,307 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MASTL
171 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001172303.3(MASTL):c.2161C>T (p.Arg721Ter) single nucleotide variant not provided [RCV000522044] Chr10:27173154 [GRCh38]
Chr10:27462083 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.501G>C (p.Glu167Asp) single nucleotide variant Thrombocytopenia 2 [RCV000002573] Chr10:27161130 [GRCh38]
Chr10:27450059 [GRCh37]
Chr10:10p12.1		 pathogenic|uncertain significance
GRCh38/hg38 10p12.1-11.23(chr10:27046685-30228891)x1 copy number loss See cases [RCV000052503] Chr10:27046685..30228891 [GRCh38]
Chr10:27335614..30517820 [GRCh37]
Chr10:27375620..30557826 [NCBI36]
Chr10:10p12.1-11.23		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
NM_001172303.1(MASTL):c.1312C>T (p.Leu438Phe) single nucleotide variant Malignant melanoma [RCV000068904] Chr10:27170271 [GRCh38]
Chr10:27459200 [GRCh37]
Chr10:27499206 [NCBI36]
Chr10:10p12.1		 not provided
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 copy number gain See cases [RCV000139427] Chr10:19088161..32732293 [GRCh38]
Chr10:19377090..33021221 [GRCh37]
Chr10:19417096..33061227 [NCBI36]
Chr10:10p12.31-11.22		 likely pathogenic
GRCh38/hg38 10p12.1-11.23(chr10:26823016-30248926)x1 copy number loss See cases [RCV000139515] Chr10:26823016..30248926 [GRCh38]
Chr10:27111945..30537855 [GRCh37]
Chr10:27151951..30577861 [NCBI36]
Chr10:10p12.1-11.23		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
NM_001172303.3(MASTL):c.811+2T>G single nucleotide variant not provided [RCV000258151] Chr10:27165541 [GRCh38]
Chr10:27454470 [GRCh37]
Chr10:10p12.1		 uncertain significance|not provided
NM_001172303.3(MASTL):c.-28C>A single nucleotide variant Thrombocytopenia [RCV001106116]|not provided [RCV001675760]|not specified [RCV000243497] Chr10:27155399 [GRCh38]
Chr10:27444328 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.1858C>G (p.Pro620Ala) single nucleotide variant Thrombocytopenia [RCV000404316]|not provided [RCV001668595]|not specified [RCV000246089] Chr10:27170817 [GRCh38]
Chr10:27459746 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.*29T>C single nucleotide variant Thrombocytopenia [RCV000296331]|not provided [RCV001610739]|not specified [RCV000243839] Chr10:27186565 [GRCh38]
Chr10:27475494 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.812-28G>A single nucleotide variant not provided [RCV001707597]|not specified [RCV000241617] Chr10:27167074 [GRCh38]
Chr10:27456003 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.660+12A>T single nucleotide variant Thrombocytopenia [RCV000283283]|not provided [RCV001675761]|not specified [RCV000251453] Chr10:27165182 [GRCh38]
Chr10:27454111 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.477G>A (p.Pro159=) single nucleotide variant Thrombocytopenia [RCV000323174]|not provided [RCV000959870]|not specified [RCV000247093] Chr10:27161106 [GRCh38]
Chr10:27450035 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.1782C>T (p.Ile594=) single nucleotide variant Thrombocytopenia [RCV000364431]|not provided [RCV001683128]|not specified [RCV000254292] Chr10:27170741 [GRCh38]
Chr10:27459670 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2124+20A>C single nucleotide variant not specified [RCV000254383] Chr10:27171103 [GRCh38]
Chr10:27460032 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.465-32G>C single nucleotide variant not provided [RCV001651260]|not specified [RCV000242309] Chr10:27161062 [GRCh38]
Chr10:27449991 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.186+37C>T single nucleotide variant not provided [RCV001610740]|not specified [RCV000249603] Chr10:27155649 [GRCh38]
Chr10:27444578 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2483-33T>C single nucleotide variant not provided [RCV001709558]|not specified [RCV000242705] Chr10:27186346 [GRCh38]
Chr10:27475275 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.34G>C (p.Gly12Arg) single nucleotide variant Thrombocytopenia [RCV001106117]|not provided [RCV000963502]|not specified [RCV000250155] Chr10:27155460 [GRCh38]
Chr10:27444389 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2619T>C (p.Thr873=) single nucleotide variant Thrombocytopenia [RCV000372462]|not provided [RCV004718152]|not specified [RCV000245396] Chr10:27186515 [GRCh38]
Chr10:27475444 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2267-9C>T single nucleotide variant not specified [RCV000250521] Chr10:27180944 [GRCh38]
Chr10:27469873 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.-27T>C single nucleotide variant Thrombocytopenia [RCV000265571]|not provided [RCV001618472]|not specified [RCV000252955] Chr10:27155400 [GRCh38]
Chr10:27444329 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2139G>A (p.Gln713=) single nucleotide variant Thrombocytopenia [RCV000361095]|not provided [RCV004718151]|not specified [RCV000245765] Chr10:27173132 [GRCh38]
Chr10:27462061 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.-12T>G single nucleotide variant Thrombocytopenia [RCV000323031]|not provided [RCV001675759]|not specified [RCV000248188] Chr10:27155415 [GRCh38]
Chr10:27444344 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.1010C>A (p.Thr337Lys) single nucleotide variant Thrombocytopenia [RCV000334567]|not provided [RCV004718150]|not specified [RCV000248286] Chr10:27169969 [GRCh38]
Chr10:27458898 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_032844.4(MASTL):c.-254T>G single nucleotide variant Thrombocytopenia [RCV000393935] Chr10:27155173 [GRCh38]
Chr10:27444102 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.*228T>C single nucleotide variant Thrombocytopenia [RCV000348212]|not provided [RCV001653476] Chr10:27186764 [GRCh38]
Chr10:27475693 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2124+14T>C single nucleotide variant Thrombocytopenia [RCV000306486] Chr10:27171097 [GRCh38]
Chr10:27460026 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1415A>G (p.Glu472Gly) single nucleotide variant Thrombocytopenia [RCV000349549]|not provided [RCV004718245] Chr10:27170374 [GRCh38]
Chr10:27459303 [GRCh37]
Chr10:10p12.1		 benign|uncertain significance
NM_001172303.3(MASTL):c.985-15T>C single nucleotide variant Thrombocytopenia [RCV000374215] Chr10:27169929 [GRCh38]
Chr10:27458858 [GRCh37]
Chr10:10p12.1		 benign|uncertain significance
NM_032844.4(MASTL):c.-226G>A single nucleotide variant Thrombocytopenia [RCV000350832]|not provided [RCV004692904] Chr10:27155201 [GRCh38]
Chr10:27444130 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.518C>T (p.Thr173Met) single nucleotide variant Thrombocytopenia [RCV000377754] Chr10:27161147 [GRCh38]
Chr10:27450076 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1703A>C (p.Asn568Thr) single nucleotide variant Thrombocytopenia [RCV000309782] Chr10:27170662 [GRCh38]
Chr10:27459591 [GRCh37]
Chr10:10p12.1		 likely benign|uncertain significance
NM_032844.4(MASTL):c.-157C>T single nucleotide variant Thrombocytopenia [RCV000354245] Chr10:27155270 [GRCh38]
Chr10:27444199 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.324+4A>C single nucleotide variant Thrombocytopenia [RCV000380017] Chr10:27158690 [GRCh38]
Chr10:27447619 [GRCh37]
Chr10:10p12.1		 benign|uncertain significance
NM_001172303.3(MASTL):c.*114A>G single nucleotide variant Thrombocytopenia [RCV000332560]|not provided [RCV001689992] Chr10:27186650 [GRCh38]
Chr10:27475579 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_032844.4(MASTL):c.-481C>T single nucleotide variant Thrombocytopenia [RCV000381640]|not provided [RCV001534987] Chr10:27154946 [GRCh38]
Chr10:27443875 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_032844.4(MASTL):c.-199G>C single nucleotide variant Thrombocytopenia [RCV000403931]|not provided [RCV001642930] Chr10:27155228 [GRCh38]
Chr10:27444157 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2298T>C (p.Val766=) single nucleotide variant Thrombocytopenia [RCV000357279]|not provided [RCV004718246] Chr10:27180984 [GRCh38]
Chr10:27469913 [GRCh37]
Chr10:10p12.1		 benign|uncertain significance
NM_001172303.3(MASTL):c.-53G>A single nucleotide variant Thrombocytopenia [RCV000357922]|not provided [RCV001683210] Chr10:27155374 [GRCh38]
Chr10:27444303 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.1408C>A (p.His470Asn) single nucleotide variant Thrombocytopenia [RCV000313648] Chr10:27170367 [GRCh38]
Chr10:27459296 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1355C>A (p.Ser452Tyr) single nucleotide variant MASTL-related disorder [RCV003967862]|Thrombocytopenia [RCV000407871] Chr10:27170314 [GRCh38]
Chr10:27459243 [GRCh37]
Chr10:10p12.1		 benign|likely benign|uncertain significance
NM_001172303.3(MASTL):c.1654A>G (p.Ser552Gly) single nucleotide variant Thrombocytopenia [RCV000407875] Chr10:27170613 [GRCh38]
Chr10:27459542 [GRCh37]
Chr10:10p12.1		 likely benign|uncertain significance
NM_001172303.3(MASTL):c.985-7C>T single nucleotide variant Thrombocytopenia [RCV000279577] Chr10:27169937 [GRCh38]
Chr10:27458866 [GRCh37]
Chr10:10p12.1		 benign|uncertain significance
NM_001172303.3(MASTL):c.*132G>A single nucleotide variant Thrombocytopenia [RCV000387040] Chr10:27186668 [GRCh38]
Chr10:27475597 [GRCh37]
Chr10:10p12.1		 benign|uncertain significance
NM_032844.4(MASTL):c.-170C>T single nucleotide variant Thrombocytopenia [RCV000296987] Chr10:27155257 [GRCh38]
Chr10:27444186 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2245C>T (p.Leu749=) single nucleotide variant Thrombocytopenia [RCV000266538]|not provided [RCV000940451] Chr10:27173238 [GRCh38]
Chr10:27462167 [GRCh37]
Chr10:10p12.1		 likely benign|uncertain significance
NM_032844.4(MASTL):c.-106T>C single nucleotide variant Thrombocytopenia [RCV000300651]|not provided [RCV004705161] Chr10:27155321 [GRCh38]
Chr10:27444250 [GRCh37]
Chr10:10p12.1		 likely benign
NM_032844.4(MASTL):c.-568G>A single nucleotide variant Thrombocytopenia [RCV000343410] Chr10:27154859 [GRCh38]
Chr10:27443788 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_032844.4(MASTL):c.-112dup duplication Thrombocytopenia [RCV000261910] Chr10:27155311..27155312 [GRCh38]
Chr10:27444240..27444241 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.2517C>T (p.Asp839=) single nucleotide variant Thrombocytopenia [RCV000262564] Chr10:27186413 [GRCh38]
Chr10:27475342 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.346G>A (p.Gly116Arg) single nucleotide variant Thrombocytopenia [RCV000268125] Chr10:27159640 [GRCh38]
Chr10:27448569 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.*203T>A single nucleotide variant Thrombocytopenia [RCV000293253] Chr10:27186739 [GRCh38]
Chr10:27475668 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_032844.4(MASTL):c.-345T>C single nucleotide variant Thrombocytopenia [RCV000347260] Chr10:27155082 [GRCh38]
Chr10:27444011 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2526T>C (p.Asn842=) single nucleotide variant Thrombocytopenia [RCV000317769] Chr10:27186422 [GRCh38]
Chr10:27475351 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2266+9T>C single nucleotide variant Thrombocytopenia [RCV000321165] Chr10:27173268 [GRCh38]
Chr10:27462197 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_032844.4(MASTL):c.-601T>A single nucleotide variant Thrombocytopenia [RCV000285992] Chr10:27154826 [GRCh38]
Chr10:27443755 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.744A>G (p.Gly248=) single nucleotide variant Thrombocytopenia [RCV000338217] Chr10:27165472 [GRCh38]
Chr10:27454401 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.*252T>C single nucleotide variant Thrombocytopenia [RCV000391324] Chr10:27186788 [GRCh38]
Chr10:27475717 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_032844.4(MASTL):c.-240G>A single nucleotide variant Thrombocytopenia [RCV000312082] Chr10:27155187 [GRCh38]
Chr10:27444116 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_032844.4(MASTL):c.-346delG deletion Thrombocytopenia [RCV000289925] Chr10:27155081 [GRCh38]
Chr10:27444010 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
NM_001172303.3(MASTL):c.1232T>C (p.Met411Thr) single nucleotide variant not provided [RCV000426901] Chr10:27170191 [GRCh38]
Chr10:27459120 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001172303.3(MASTL):c.2025G>A (p.Met675Ile) single nucleotide variant not specified [RCV004319552] Chr10:27170984 [GRCh38]
Chr10:27459913 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys) single nucleotide variant Thrombocytopenia 2 [RCV000714836] Chr10:27167157 [GRCh38]
Chr10:27456086 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p12.1(chr10:26318337-27889818)x3 copy number gain not provided [RCV000737055] Chr10:26318337..27889818 [GRCh37]
Chr10:10p12.1		 likely benign
GRCh37/hg19 10p12.1(chr10:26344939-27889818)x3 copy number gain not provided [RCV000749539] Chr10:26344939..27889818 [GRCh37]
Chr10:10p12.1		 likely benign
GRCh37/hg19 10p12.1(chr10:27266501-27723033)x1 copy number loss not provided [RCV000749553] Chr10:27266501..27723033 [GRCh37]
Chr10:10p12.1		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001172303.3(MASTL):c.2267-204G>T single nucleotide variant not provided [RCV001669551] Chr10:27180749 [GRCh38]
Chr10:27469678 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.1736T>C (p.Met579Thr) single nucleotide variant Thrombocytopenia [RCV001106207]|not provided [RCV000947238] Chr10:27170695 [GRCh38]
Chr10:27459624 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2620G>A (p.Val874Ile) single nucleotide variant Thrombocytopenia 2 [RCV002466596]|Thrombocytopenia [RCV001105157]|not provided [RCV000968944] Chr10:27186516 [GRCh38]
Chr10:27475445 [GRCh37]
Chr10:10p12.1		 benign|likely benign
GRCh37/hg19 10p12.1(chr10:27302866-28355945)x3 copy number gain not provided [RCV001006302] Chr10:27302866..28355945 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.478G>A (p.Asp160Asn) single nucleotide variant Thrombocytopenia [RCV001108329]|not specified [RCV004032133] Chr10:27161107 [GRCh38]
Chr10:27450036 [GRCh37]
Chr10:10p12.1		 likely benign|uncertain significance
NM_001172303.3(MASTL):c.2087C>T (p.Thr696Ile) single nucleotide variant not specified [RCV004293090] Chr10:27171046 [GRCh38]
Chr10:27459975 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.187-273T>C single nucleotide variant not provided [RCV001671969] Chr10:27158276 [GRCh38]
Chr10:27447205 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.985-305A>C single nucleotide variant not provided [RCV001598157] Chr10:27169639 [GRCh38]
Chr10:27458568 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.338T>C (p.Leu113Pro) single nucleotide variant not specified [RCV004305432] Chr10:27159632 [GRCh38]
Chr10:27448561 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1930A>C (p.Lys644Gln) single nucleotide variant MASTL-related disorder [RCV003973075]|Thrombocytopenia [RCV001108424]|not provided [RCV004718824] Chr10:27170889 [GRCh38]
Chr10:27459818 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.1997A>G (p.Asn666Ser) single nucleotide variant Thrombocytopenia [RCV001108425]|not specified [RCV004639469] Chr10:27170956 [GRCh38]
Chr10:27459885 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2060A>G (p.Tyr687Cys) single nucleotide variant MASTL-related disorder [RCV003945814]|Thrombocytopenia [RCV001108426]|not specified [RCV004032134] Chr10:27171019 [GRCh38]
Chr10:27459948 [GRCh37]
Chr10:10p12.1		 benign|uncertain significance
NM_001172303.3(MASTL):c.996A>G (p.Glu332=) single nucleotide variant Thrombocytopenia [RCV001103152] Chr10:27169955 [GRCh38]
Chr10:27458884 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p12.1(chr10:27065576-27549923)x3 copy number gain not provided [RCV002472683] Chr10:27065576..27549923 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2267-222C>T single nucleotide variant not provided [RCV001659067] Chr10:27180731 [GRCh38]
Chr10:27469660 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2267-272C>G single nucleotide variant not provided [RCV001674696] Chr10:27180681 [GRCh38]
Chr10:27469610 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.186+165A>T single nucleotide variant not provided [RCV001678514] Chr10:27155777 [GRCh38]
Chr10:27444706 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.985-194C>T single nucleotide variant not provided [RCV001698577] Chr10:27169750 [GRCh38]
Chr10:27458679 [GRCh37]
Chr10:10p12.1		 benign
NC_000010.11:g.27154694C>G single nucleotide variant not provided [RCV001657644] Chr10:27154694 [GRCh38]
Chr10:27443623 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.1016T>A (p.Met339Lys) single nucleotide variant MASTL-related disorder [RCV003953474]|Thrombocytopenia [RCV001103153] Chr10:27169975 [GRCh38]
Chr10:27458904 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2148G>A (p.Ser716=) single nucleotide variant Thrombocytopenia [RCV001103243] Chr10:27173141 [GRCh38]
Chr10:27462070 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.812-8C>T single nucleotide variant MASTL-related disorder [RCV003938448]|Thrombocytopenia [RCV001103150] Chr10:27167094 [GRCh38]
Chr10:27456023 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2521G>A (p.Glu841Lys) single nucleotide variant Thrombocytopenia [RCV001103245] Chr10:27186417 [GRCh38]
Chr10:27475346 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1876C>G (p.Pro626Ala) single nucleotide variant Thrombocytopenia [RCV001108423] Chr10:27170835 [GRCh38]
Chr10:27459764 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1210C>T (p.Leu404=) single nucleotide variant Thrombocytopenia [RCV001105061] Chr10:27170169 [GRCh38]
Chr10:27459098 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1488C>T (p.His496=) single nucleotide variant Thrombocytopenia [RCV001105062] Chr10:27170447 [GRCh38]
Chr10:27459376 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.*51T>A single nucleotide variant Thrombocytopenia [RCV001105158] Chr10:27186587 [GRCh38]
Chr10:27475516 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1147C>T (p.Arg383Cys) single nucleotide variant Thrombocytopenia [RCV001105060] Chr10:27170106 [GRCh38]
Chr10:27459035 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.110T>C (p.Ile37Thr) single nucleotide variant Thrombocytopenia [RCV001106118] Chr10:27155536 [GRCh38]
Chr10:27444465 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1828G>A (p.Val610Ile) single nucleotide variant MASTL-related disorder [RCV003973072]|Thrombocytopenia [RCV001106209]|not provided [RCV003413917] Chr10:27170787 [GRCh38]
Chr10:27459716 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2120A>T (p.His707Leu) single nucleotide variant MASTL-related disorder [RCV003918688]|Thrombocytopenia [RCV001108427]|not provided [RCV001702878] Chr10:27171079 [GRCh38]
Chr10:27460008 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.2267-148G>A single nucleotide variant not provided [RCV001615425] Chr10:27180805 [GRCh38]
Chr10:27469734 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2125-94T>A single nucleotide variant not provided [RCV001648911] Chr10:27173024 [GRCh38]
Chr10:27461953 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2381-197C>T single nucleotide variant not provided [RCV001708672] Chr10:27181283 [GRCh38]
Chr10:27470212 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.324+150G>A single nucleotide variant not provided [RCV001612548] Chr10:27158836 [GRCh38]
Chr10:27447765 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2124+290A>G single nucleotide variant not provided [RCV001708258] Chr10:27171373 [GRCh38]
Chr10:27460302 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2197G>A (p.Val733Ile) single nucleotide variant Thrombocytopenia [RCV001103244]|not specified [RCV004032093] Chr10:27173190 [GRCh38]
Chr10:27462119 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.*60A>T single nucleotide variant Thrombocytopenia [RCV001105159] Chr10:27186596 [GRCh38]
Chr10:27475525 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.1566A>G (p.Lys522=) single nucleotide variant Thrombocytopenia [RCV001106206]|not provided [RCV004693638] Chr10:27170525 [GRCh38]
Chr10:27459454 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1816G>T (p.Asp606Tyr) single nucleotide variant Thrombocytopenia [RCV001106208] Chr10:27170775 [GRCh38]
Chr10:27459704 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.748G>A (p.Val250Ile) single nucleotide variant Thrombocytopenia [RCV001103149] Chr10:27165476 [GRCh38]
Chr10:27454405 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.871C>T (p.Leu291Phe) single nucleotide variant Thrombocytopenia [RCV001103151] Chr10:27167161 [GRCh38]
Chr10:27456090 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.1045G>A (p.Ala349Thr) single nucleotide variant MASTL-related disorder [RCV003918683]|Thrombocytopenia [RCV001105059] Chr10:27170004 [GRCh38]
Chr10:27458933 [GRCh37]
Chr10:10p12.1		 benign|likely benign
NM_001172303.3(MASTL):c.1556C>T (p.Thr519Ile) single nucleotide variant Thrombocytopenia [RCV001105063] Chr10:27170515 [GRCh38]
Chr10:27459444 [GRCh37]
Chr10:10p12.1		 likely benign
GRCh37/hg19 10p12.1(chr10:27265783-28643506)x1 copy number loss not provided [RCV001259541] Chr10:27265783..28643506 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.186+222C>A single nucleotide variant not provided [RCV001679595] Chr10:27155834 [GRCh38]
Chr10:27444763 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2483-298C>T single nucleotide variant not provided [RCV001618189] Chr10:27186081 [GRCh38]
Chr10:27475010 [GRCh37]
Chr10:10p12.1		 benign
NM_001172303.3(MASTL):c.2033T>C (p.Leu678Ser) single nucleotide variant Autosomal dominant thrombocytopenia [RCV002244251] Chr10:27170992 [GRCh38]
Chr10:27459921 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
GRCh37/hg19 10p12.1(chr10:27204530-29105882)x1 copy number loss not provided [RCV001827877] Chr10:27204530..29105882 [GRCh37]
Chr10:10p12.1		 pathogenic
GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521) copy number gain not specified [RCV002052863] Chr10:6273934..34732521 [GRCh37]
Chr10:10p15.1-11.21		 pathogenic
NC_000010.10:g.(?_27294519)_(27529617_?)dup duplication not provided [RCV002029363] Chr10:27294519..27529617 [GRCh37]
Chr10:10p12.1		 uncertain significance
NC_000010.10:g.(?_26993586)_(28391597_?)dup duplication not provided [RCV003123119] Chr10:26993586..28391597 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.661-2A>G single nucleotide variant not specified [RCV002466052] Chr10:27165387 [GRCh38]
Chr10:27454316 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2519G>A (p.Trp840Ter) single nucleotide variant Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities [RCV002466943] Chr10:27186415 [GRCh38]
Chr10:27475344 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2618C>A (p.Thr873Asn) single nucleotide variant not specified [RCV004154945] Chr10:27186514 [GRCh38]
Chr10:27475443 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1742G>T (p.Ser581Ile) single nucleotide variant not specified [RCV004086943] Chr10:27170701 [GRCh38]
Chr10:27459630 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2351A>C (p.Gln784Pro) single nucleotide variant not specified [RCV004205059] Chr10:27181037 [GRCh38]
Chr10:27469966 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.617G>T (p.Arg206Ile) single nucleotide variant not specified [RCV004139560] Chr10:27165127 [GRCh38]
Chr10:27454056 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1894A>G (p.Asn632Asp) single nucleotide variant not specified [RCV004220365] Chr10:27170853 [GRCh38]
Chr10:27459782 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1376T>A (p.Ile459Lys) single nucleotide variant not specified [RCV004112033] Chr10:27170335 [GRCh38]
Chr10:27459264 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1070C>T (p.Thr357Met) single nucleotide variant not provided [RCV004790462]|not specified [RCV004225696] Chr10:27170029 [GRCh38]
Chr10:27458958 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2290C>G (p.Leu764Val) single nucleotide variant not specified [RCV004217537] Chr10:27180976 [GRCh38]
Chr10:27469905 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1118A>G (p.His373Arg) single nucleotide variant not specified [RCV004072698] Chr10:27170077 [GRCh38]
Chr10:27459006 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2093C>T (p.Thr698Ile) single nucleotide variant not specified [RCV004075640] Chr10:27171052 [GRCh38]
Chr10:27459981 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1528G>A (p.Val510Ile) single nucleotide variant not specified [RCV004217470] Chr10:27170487 [GRCh38]
Chr10:27459416 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.434A>T (p.Asp145Val) single nucleotide variant not specified [RCV004160852] Chr10:27159728 [GRCh38]
Chr10:27448657 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.406T>C (p.Tyr136His) single nucleotide variant not specified [RCV004122485] Chr10:27159700 [GRCh38]
Chr10:27448629 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2336A>G (p.Asn779Ser) single nucleotide variant not specified [RCV004213700] Chr10:27181022 [GRCh38]
Chr10:27469951 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.834C>G (p.Asn278Lys) single nucleotide variant not specified [RCV004259408] Chr10:27167124 [GRCh38]
Chr10:27456053 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1597A>G (p.Met533Val) single nucleotide variant not specified [RCV004286844] Chr10:27170556 [GRCh38]
Chr10:27459485 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1508G>C (p.Cys503Ser) single nucleotide variant not specified [RCV004263059] Chr10:27170467 [GRCh38]
Chr10:27459396 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2008C>G (p.Pro670Ala) single nucleotide variant not specified [RCV004271780] Chr10:27170967 [GRCh38]
Chr10:27459896 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1406A>G (p.Lys469Arg) single nucleotide variant not specified [RCV004260791] Chr10:27170365 [GRCh38]
Chr10:27459294 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_001172303.3(MASTL):c.32C>T (p.Pro11Leu) single nucleotide variant not specified [RCV004343442] Chr10:27155458 [GRCh38]
Chr10:27444387 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.826G>T (p.Ala276Ser) single nucleotide variant not specified [RCV004353825] Chr10:27167116 [GRCh38]
Chr10:27456045 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1826T>C (p.Ile609Thr) single nucleotide variant not provided [RCV004707828]|not specified [RCV004344071] Chr10:27170785 [GRCh38]
Chr10:27459714 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1189G>T (p.Val397Phe) single nucleotide variant not specified [RCV004348986] Chr10:27170148 [GRCh38]
Chr10:27459077 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2629T>C (p.Phe877Leu) single nucleotide variant MASTL-related disorder [RCV003402283] Chr10:27186525 [GRCh38]
Chr10:27475454 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.109A>C (p.Ile37Leu) single nucleotide variant MASTL-related disorder [RCV003391303] Chr10:27155535 [GRCh38]
Chr10:27444464 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1292G>C (p.Gly431Ala) single nucleotide variant MASTL-related disorder [RCV003410580] Chr10:27170251 [GRCh38]
Chr10:27459180 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1414G>A (p.Glu472Lys) single nucleotide variant MASTL-related disorder [RCV003417126] Chr10:27170373 [GRCh38]
Chr10:27459302 [GRCh37]
Chr10:10p12.1		 likely benign|uncertain significance
NM_001172303.3(MASTL):c.277A>G (p.Ile93Val) single nucleotide variant not provided [RCV003417290] Chr10:27158639 [GRCh38]
Chr10:27447568 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1423A>G (p.Asn475Asp) single nucleotide variant MASTL-related disorder [RCV003400404] Chr10:27170382 [GRCh38]
Chr10:27459311 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1067A>C (p.Glu356Ala) single nucleotide variant not specified [RCV004416691] Chr10:27170026 [GRCh38]
Chr10:27458955 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2042T>C (p.Met681Thr) single nucleotide variant not specified [RCV004416695] Chr10:27171001 [GRCh38]
Chr10:27459930 [GRCh37]
Chr10:10p12.1		 uncertain significance
GRCh37/hg19 10p12.1-11.23(chr10:25646101-30715668)x1 copy number loss not specified [RCV003986880] Chr10:25646101..30715668 [GRCh37]
Chr10:10p12.1-11.23		 pathogenic
NM_001172303.3(MASTL):c.495T>C (p.Ser165=) single nucleotide variant MASTL-related disorder [RCV003983520] Chr10:27161124 [GRCh38]
Chr10:27450053 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.2165C>A (p.Thr722Asn) single nucleotide variant not specified [RCV004416696] Chr10:27173158 [GRCh38]
Chr10:27462087 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1038G>A (p.Lys346=) single nucleotide variant MASTL-related disorder [RCV003959444] Chr10:27169997 [GRCh38]
Chr10:27458926 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1431T>C (p.Tyr477=) single nucleotide variant MASTL-related disorder [RCV003976804] Chr10:27170390 [GRCh38]
Chr10:27459319 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1870G>A (p.Glu624Lys) single nucleotide variant not specified [RCV004416694] Chr10:27170829 [GRCh38]
Chr10:27459758 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.294T>C (p.Tyr98=) single nucleotide variant MASTL-related disorder [RCV003902221] Chr10:27158656 [GRCh38]
Chr10:27447585 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.316G>T (p.Val106Phe) single nucleotide variant not specified [RCV004416697] Chr10:27158678 [GRCh38]
Chr10:27447607 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.476C>T (p.Pro159Leu) single nucleotide variant not specified [RCV004416698] Chr10:27161105 [GRCh38]
Chr10:27450034 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.969G>T (p.Trp323Cys) single nucleotide variant not specified [RCV004416699] Chr10:27167259 [GRCh38]
Chr10:27456188 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1186G>C (p.Glu396Gln) single nucleotide variant MASTL-related disorder [RCV003924007] Chr10:27170145 [GRCh38]
Chr10:27459074 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.2217A>G (p.Leu739=) single nucleotide variant MASTL-related disorder [RCV003904662] Chr10:27173210 [GRCh38]
Chr10:27462139 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1742G>A (p.Ser581Asn) single nucleotide variant not specified [RCV004416693] Chr10:27170701 [GRCh38]
Chr10:27459630 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1935G>A (p.Thr645=) single nucleotide variant MASTL-related disorder [RCV003916823] Chr10:27170894 [GRCh38]
Chr10:27459823 [GRCh37]
Chr10:10p12.1		 likely benign
NC_000010.10:g.(?_27294519)_(28250664_?)dup duplication not provided [RCV004581809] Chr10:27294519..28250664 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.396G>A (p.Met132Ile) single nucleotide variant not specified [RCV004637670] Chr10:27159690 [GRCh38]
Chr10:27448619 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1394G>T (p.Cys465Phe) single nucleotide variant not specified [RCV004637671] Chr10:27170353 [GRCh38]
Chr10:27459282 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1990G>A (p.Ala664Thr) single nucleotide variant not specified [RCV004636592] Chr10:27170949 [GRCh38]
Chr10:27459878 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1948A>G (p.Arg650Gly) single nucleotide variant MASTL-related disorder [RCV004730483] Chr10:27170907 [GRCh38]
Chr10:27459836 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1130C>T (p.Ala377Val) single nucleotide variant MASTL-related disorder [RCV004753802] Chr10:27170089 [GRCh38]
Chr10:27459018 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1774A>G (p.Arg592Gly) single nucleotide variant not provided [RCV004793260] Chr10:27170733 [GRCh38]
Chr10:27459662 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2125C>T (p.Gln709Ter) single nucleotide variant not provided [RCV004793261] Chr10:27173118 [GRCh38]
Chr10:27462047 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2441T>A (p.Ile814Lys) single nucleotide variant not provided [RCV004793262] Chr10:27181540 [GRCh38]
Chr10:27470469 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1513A>G (p.Asn505Asp) single nucleotide variant not specified [RCV004940948] Chr10:27170472 [GRCh38]
Chr10:27459401 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.2566G>A (p.Asp856Asn) single nucleotide variant not specified [RCV004940943] Chr10:27186462 [GRCh38]
Chr10:27475391 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1261C>T (p.His421Tyr) single nucleotide variant not specified [RCV004940945] Chr10:27170220 [GRCh38]
Chr10:27459149 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.979T>G (p.Cys327Gly) single nucleotide variant not specified [RCV004940951] Chr10:27167269 [GRCh38]
Chr10:27456198 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.325G>A (p.Val109Ile) single nucleotide variant not specified [RCV004940949] Chr10:27159619 [GRCh38]
Chr10:27448548 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.1957G>A (p.Val653Ile) single nucleotide variant not specified [RCV004940946] Chr10:27170916 [GRCh38]
Chr10:27459845 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.31C>T (p.Pro11Ser) single nucleotide variant not specified [RCV004940947] Chr10:27155457 [GRCh38]
Chr10:27444386 [GRCh37]
Chr10:10p12.1		 likely benign
NM_001172303.3(MASTL):c.1967G>A (p.Arg656Gln) single nucleotide variant not specified [RCV004940944] Chr10:27170926 [GRCh38]
Chr10:27459855 [GRCh37]
Chr10:10p12.1		 uncertain significance
NM_001172303.3(MASTL):c.319T>C (p.Tyr107His) single nucleotide variant not specified [RCV004940950] Chr10:27158681 [GRCh38]
Chr10:27447610 [GRCh37]
Chr10:10p12.1		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR155hsa-miR-155-5pMirtarbaseexternal_infoReporter assay;OtherFunctional MTI18668040

Predicted Target Of
Summary Value
Count of predictions:442
Count of miRNA genes:144
Interacting mature miRNAs:148
Transcripts:ENST00000342386, ENST00000375940, ENST00000375946, ENST00000477034
Prediction methods:Miranda, Rnahybrid
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
1643515BW287_HBody Weight QTL 287 (human)2.450.0004Body weightBMI101842411044424110Human
597062052GWAS1158126_Hsquamous cell lung carcinoma QTL GWAS1158126 (human)0.000002squamous cell lung carcinoma102715627627156277Human
407060967GWAS709943_Hplatelet count QTL GWAS709943 (human)8e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)102718430627184307Human
1300009BW22_HBody weight QTL 22 (human)2.32Body weightbody mass index101842411044424110Human

Markers in Region
D10S586  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371024,696,151 - 24,696,259UniSTSGRCh37
GRCh371024,696,152 - 24,696,281UniSTSGRCh37
Build 361024,736,157 - 24,736,265RGDNCBI36
Celera1024,388,073 - 24,388,202UniSTS
Celera1024,388,072 - 24,388,180RGD
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map10p12.1UniSTS
HuRef1024,357,646 - 24,357,775UniSTS
HuRef1024,357,645 - 24,357,753UniSTS
Marshfield Genetic Map1048.36RGD
Genethon Genetic Map1046.8UniSTS
TNG Radiation Hybrid Map1012637.0UniSTS
deCODE Assembly Map1048.69UniSTS
Stanford-G3 RH Map101226.0UniSTS
GeneMap99-GB4 RH Map10143.64UniSTS
Whitehead-RH Map10156.7UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10399.4UniSTS
GeneMap99-G3 RH Map101226.0UniSTS
D10S1639  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map10p12.1UniSTS
HuRef1028,558,536 - 28,558,786UniSTS
Marshfield Genetic Map1054.23UniSTS
Marshfield Genetic Map1054.23RGD
Genethon Genetic Map1053.3UniSTS
TNG Radiation Hybrid Map1014977.0UniSTS
deCODE Assembly Map1053.33UniSTS
Whitehead-YAC Contig Map10 UniSTS
RH45019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,475,610 - 27,475,732UniSTSGRCh37
Build 361027,515,616 - 27,515,738RGDNCBI36
Celera1027,192,052 - 27,192,174RGD
Cytogenetic Map10p12.1UniSTS
HuRef1027,144,284 - 27,144,406UniSTS
GeneMap99-GB4 RH Map10166.73UniSTS
MASTL__6289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,475,310 - 27,475,854UniSTSGRCh37
Build 361027,515,316 - 27,515,860RGDNCBI36
Celera1027,191,752 - 27,192,296RGD
HuRef1027,143,984 - 27,144,528UniSTS
MASTL  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371027,469,949 - 27,470,461UniSTSGRCh37
Celera1027,186,393 - 27,186,905UniSTS
HuRef1027,138,618 - 27,139,130UniSTS
D10S588  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
TNG Radiation Hybrid Map1014735.0UniSTS
Stanford-G3 RH Map101453.0UniSTS
GeneMap99-G3 RH Map101453.0UniSTS


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 2251 4966 1725 2351 5 623 1951 465 2269 7301 6466 53 3728 1 851 1741 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001372030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005252632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK027719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW408392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW675108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ432201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU430288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA524606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB150802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GD152895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000342386   ⟹   ENSP00000343446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,155,370 - 27,186,924 (+)Ensembl
Ensembl Acc Id: ENST00000375940   ⟹   ENSP00000365107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,155,352 - 27,187,953 (+)Ensembl
Ensembl Acc Id: ENST00000375946   ⟹   ENSP00000365113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,154,824 - 27,186,919 (+)Ensembl
Ensembl Acc Id: ENST00000477034   ⟹   ENSP00000478938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1027,169,944 - 27,186,718 (+)Ensembl
RefSeq Acc Id: NM_001172303   ⟹   NP_001165774
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
GRCh371027,443,753 - 27,475,848 (+)RGD
Celera1027,160,210 - 27,192,290 (+)RGD
HuRef1027,112,454 - 27,144,522 (+)ENTREZGENE
CHM1_11027,443,697 - 27,476,814 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001172304   ⟹   NP_001165775
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
GRCh371027,443,753 - 27,475,848 (+)RGD
Celera1027,160,210 - 27,192,290 (+)RGD
HuRef1027,112,454 - 27,144,522 (+)ENTREZGENE
CHM1_11027,443,697 - 27,476,814 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320756   ⟹   NP_001307685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
CHM1_11027,443,697 - 27,476,814 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320757   ⟹   NP_001307686
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
CHM1_11027,443,697 - 27,476,814 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001372029   ⟹   NP_001358958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001372030   ⟹   NP_001358959
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032844   ⟹   NP_116233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
GRCh371027,443,753 - 27,475,848 (+)RGD
Build 361027,484,298 - 27,515,854 (+)NCBI Archive
Celera1027,160,210 - 27,192,290 (+)RGD
HuRef1027,112,454 - 27,144,522 (+)ENTREZGENE
CHM1_11027,443,697 - 27,476,814 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135469
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
CHM1_11027,443,697 - 27,476,814 (+)NCBI
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252631   ⟹   XP_005252688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
GRCh371027,443,753 - 27,475,848 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005252632   ⟹   XP_005252689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
GRCh371027,443,753 - 27,475,848 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717519   ⟹   XP_006717582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717520   ⟹   XP_006717583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,181,667 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519751   ⟹   XP_011518053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,165,451 - 27,187,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016852   ⟹   XP_016872341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016853   ⟹   XP_016872342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,154,479 - 27,187,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016855   ⟹   XP_016872344
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,182,543 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448243   ⟹   XP_024304011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448244   ⟹   XP_024304012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,187,953 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425916   ⟹   XP_047281872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,154,479 - 27,187,953 (+)NCBI
RefSeq Acc Id: XM_047425917   ⟹   XP_047281873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,154,479 - 27,187,953 (+)NCBI
RefSeq Acc Id: XM_047425918   ⟹   XP_047281874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,352 - 27,182,543 (+)NCBI
RefSeq Acc Id: XM_047425919   ⟹   XP_047281875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,154,479 - 27,187,953 (+)NCBI
RefSeq Acc Id: XM_047425920   ⟹   XP_047281876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,154,479 - 27,187,953 (+)NCBI
RefSeq Acc Id: XM_054367034   ⟹   XP_054223009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367035   ⟹   XP_054223010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367036   ⟹   XP_054223011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367037   ⟹   XP_054223012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367038   ⟹   XP_054223013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,184,502 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367039   ⟹   XP_054223014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,184,497 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367040   ⟹   XP_054223015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,184,502 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367041   ⟹   XP_054223016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367042   ⟹   XP_054223017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367043   ⟹   XP_054223018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,211,658 (+)NCBI
RefSeq Acc Id: XM_054367044   ⟹   XP_054223019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,212,535 (+)NCBI
RefSeq Acc Id: XM_054367045   ⟹   XP_054223020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,185,375 - 27,212,535 (+)NCBI
RefSeq Acc Id: XM_054367046   ⟹   XP_054223021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,184,483 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367047   ⟹   XP_054223022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,184,502 - 27,217,949 (+)NCBI
RefSeq Acc Id: XM_054367048   ⟹   XP_054223023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01027,195,476 - 27,217,949 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001165774 (Get FASTA)   NCBI Sequence Viewer  
  NP_001165775 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307685 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307686 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358958 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358959 (Get FASTA)   NCBI Sequence Viewer  
  NP_116233 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252688 (Get FASTA)   NCBI Sequence Viewer  
  XP_005252689 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717582 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717583 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518053 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872341 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872342 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872344 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304011 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304012 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281872 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281873 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281874 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281875 (Get FASTA)   NCBI Sequence Viewer  
  XP_047281876 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223009 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223010 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223011 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223014 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223015 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223016 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223017 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223018 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223019 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223020 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223021 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223022 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223023 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH09107 (Get FASTA)   NCBI Sequence Viewer  
  BAB55321 (Get FASTA)   NCBI Sequence Viewer  
  BAC11218 (Get FASTA)   NCBI Sequence Viewer  
  EAW86064 (Get FASTA)   NCBI Sequence Viewer  
  EAW86065 (Get FASTA)   NCBI Sequence Viewer  
  EAW86066 (Get FASTA)   NCBI Sequence Viewer  
  EAW86067 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343446
  ENSP00000343446.5
  ENSP00000365107
  ENSP00000365107.5
  ENSP00000365113
  ENSP00000365113.4
  ENSP00000394152.1
  ENSP00000478938.1
  ENSP00000501607.1
  ENSP00000501975.1
  ENSP00000502093.1
  ENSP00000502237.1
  ENSP00000502355.1
  ENSP00000502438.1
  ENSP00000502448.1
  ENSP00000502506.1
  ENSP00000502611.1
  ENSP00000502704.1
  ENSP00000502724.1
  ENSP00000502733.1
GenBank Protein Q96GX5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001165774   ⟸   NM_001172303
- Peptide Label: isoform 1
- UniProtKB: Q8NCD6 (UniProtKB/Swiss-Prot),   Q5T8D7 (UniProtKB/Swiss-Prot),   Q5T8D5 (UniProtKB/Swiss-Prot),   Q96SJ5 (UniProtKB/Swiss-Prot),   Q96GX5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_116233   ⟸   NM_032844
- Peptide Label: isoform 2
- UniProtKB: Q96GX5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001165775   ⟸   NM_001172304
- Peptide Label: isoform 3
- UniProtKB: Q96GX5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005252688   ⟸   XM_005252631
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005252689   ⟸   XM_005252632
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006717582   ⟸   XM_006717519
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006717583   ⟸   XM_006717520
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011518053   ⟸   XM_011519751
- Peptide Label: isoform X15
- UniProtKB: A0A087WUU7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307686   ⟸   NM_001320757
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001307685   ⟸   NM_001320756
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: XP_016872342   ⟸   XM_017016853
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016872341   ⟸   XM_017016852
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016872344   ⟸   XM_017016855
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_024304011   ⟸   XM_024448243
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024304012   ⟸   XM_024448244
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: NP_001358958   ⟸   NM_001372029
- Peptide Label: isoform 6
RefSeq Acc Id: NP_001358959   ⟸   NM_001372030
- Peptide Label: isoform 7
Ensembl Acc Id: ENSP00000478938   ⟸   ENST00000477034
Ensembl Acc Id: ENSP00000365107   ⟸   ENST00000375940
Ensembl Acc Id: ENSP00000365113   ⟸   ENST00000375946
Ensembl Acc Id: ENSP00000343446   ⟸   ENST00000342386
RefSeq Acc Id: XP_047281872   ⟸   XM_047425916
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047281875   ⟸   XM_047425919
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047281873   ⟸   XM_047425917
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047281876   ⟸   XM_047425920
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047281874   ⟸   XM_047425918
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054223021   ⟸   XM_054367046
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054223014   ⟸   XM_054367039
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054223013   ⟸   XM_054367038
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054223015   ⟸   XM_054367040
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054223022   ⟸   XM_054367047
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054223009   ⟸   XM_054367034
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223010   ⟸   XM_054367035
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054223012   ⟸   XM_054367037
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054223016   ⟸   XM_054367041
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054223011   ⟸   XM_054367036
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054223017   ⟸   XM_054367042
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054223019   ⟸   XM_054367044
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054223020   ⟸   XM_054367045
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054223018   ⟸   XM_054367043
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054223023   ⟸   XM_054367048
- Peptide Label: isoform X15
- UniProtKB: A0A087WUU7 (UniProtKB/TrEMBL)
Protein Domains
AGC-kinase C-terminal   CCDC144C-like coiled-coil   DUF3496   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96GX5-F1-model_v2 AlphaFold Q96GX5 1-879 view protein structure

Promoters
RGD ID:7217243
Promoter ID:EPDNEW_H14367
Type:initiation region
Name:MASTL_2
Description:microtubule associated serine/threonine kinase like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14370  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,154,479 - 27,154,539EPDNEW
RGD ID:7217249
Promoter ID:EPDNEW_H14370
Type:initiation region
Name:MASTL_1
Description:microtubule associated serine/threonine kinase like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14367  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381027,155,363 - 27,155,423EPDNEW
RGD ID:6787869
Promoter ID:HG_KWN:8946
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:UC001ITL.2,   UC001ITM.2,   UC009XKW.1,   UC009XKX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361027,483,921 - 27,484,532 (+)MPROMDB
RGD ID:6787870
Promoter ID:HG_KWN:8947
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000047318
Position:
Human AssemblyChrPosition (strand)Source
Build 361027,499,041 - 27,500,012 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19042 AgrOrtholog
COSMIC MASTL COSMIC
Ensembl Genes ENSG00000107890 UniProtKB/TrEMBL
  ENSG00000120539 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000342386 ENTREZGENE
  ENST00000342386.10 UniProtKB/Swiss-Prot
  ENST00000375940 ENTREZGENE
  ENST00000375940.9 UniProtKB/Swiss-Prot
  ENST00000375946 ENTREZGENE
  ENST00000375946.8 UniProtKB/Swiss-Prot
  ENST00000445828.5 UniProtKB/TrEMBL
  ENST00000477034.2 UniProtKB/TrEMBL
  ENST00000674670.1 UniProtKB/TrEMBL
  ENST00000674697.1 UniProtKB/TrEMBL
  ENST00000675116.1 UniProtKB/TrEMBL
  ENST00000675187.1 UniProtKB/TrEMBL
  ENST00000675439.1 UniProtKB/TrEMBL
  ENST00000675846.1 UniProtKB/TrEMBL
  ENST00000675936.1 UniProtKB/TrEMBL
  ENST00000676232.1 UniProtKB/TrEMBL
  ENST00000676280.1 UniProtKB/TrEMBL
  ENST00000676299.1 UniProtKB/TrEMBL
  ENST00000676361.1 UniProtKB/TrEMBL
  ENST00000676420.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/TrEMBL
  Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107890 GTEx
  ENSG00000120539 GTEx
HGNC ID HGNC:19042 ENTREZGENE
Human Proteome Map MASTL Human Proteome Map
InterPro AGC-kinase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_repeat_domain UniProtKB/TrEMBL
  Ankyrin_rpt UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/TrEMBL
  C144A/B/C UniProtKB/TrEMBL
  CC144C-like_CC_dom UniProtKB/TrEMBL
  DUF3496 UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  MASTL_STKc UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
  Ser_Thr_kinase_AGC UniProtKB/Swiss-Prot
KEGG Report hsa:84930 UniProtKB/Swiss-Prot
NCBI Gene 84930 ENTREZGENE
OMIM 608221 OMIM
PANTHER ANKYRIN REPEAT DOMAIN 36-RELATED UniProtKB/TrEMBL
  ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 26 UniProtKB/TrEMBL
  COILED-COIL DOMAIN-CONTAINING PROTEIN 144A-RELATED UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE UniProtKB/Swiss-Prot
  SERINE/THREONINE-PROTEIN KINASE GREATWALL UniProtKB/Swiss-Prot
  UNCHARACTERIZED UniProtKB/TrEMBL
Pfam Ank UniProtKB/TrEMBL
  Ank_2 UniProtKB/TrEMBL
  CCDC144C UniProtKB/TrEMBL
  DUF3496 UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot
PharmGKB PA134943781 PharmGKB
PRINTS ANKYRIN UniProtKB/TrEMBL
PROSITE AGC_KINASE_CTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REP_REGION UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART ANK UniProtKB/TrEMBL
  S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot
  Tropomyosin UniProtKB/TrEMBL
UniProt A0A087WUU7 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PF30_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFU2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG48_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGH2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGU7_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGV3_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGX8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH02_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHD6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHI6_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHK2_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHK8_HUMAN UniProtKB/TrEMBL
  GWL_HUMAN UniProtKB/Swiss-Prot
  H0Y4T9_HUMAN UniProtKB/TrEMBL
  Q5T8D5 ENTREZGENE
  Q5T8D7 ENTREZGENE
  Q8NCD6 ENTREZGENE
  Q96GX5 ENTREZGENE
  Q96SJ5 ENTREZGENE
UniProt Secondary Q5T8D5 UniProtKB/Swiss-Prot
  Q5T8D7 UniProtKB/Swiss-Prot
  Q8NCD6 UniProtKB/Swiss-Prot
  Q96SJ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 MASTL  microtubule associated serine/threonine kinase like  THC2  thrombocytopenia 2 (autosomal dominant)  Data merged from RGD:1350927 737654 PROVISIONAL
2015-12-01 MASTL  microtubule associated serine/threonine kinase like    microtubule associated serine/threonine kinase-like  Symbol and/or name change 5135510 APPROVED