ST14 (ST14 transmembrane serine protease matriptase) - Rat Genome Database

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Gene: ST14 (ST14 transmembrane serine protease matriptase) Homo sapiens
Analyze
Symbol: ST14
Name: ST14 transmembrane serine protease matriptase
RGD ID: 733374
HGNC Page HGNC
Description: Exhibits serine-type peptidase activity. Involved in keratinocyte differentiation and proteolysis. Predicted to localize to extracellular region. Implicated in autosomal recessive congenital ichthyosis 11. Biomarker of ductal carcinoma in situ; dysgerminoma; granulosa cell tumor; prostate carcinoma in situ; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARCI11; CAP3; channel-activating protein 3; HAI; membrane-type serine protease 1; MT-SP1; MTSP1; prostamin; PRSS14; serine protease 14; serine protease TADG-15; SNC19; suppression of tumorigenicity 14; suppression of tumorigenicity 14 (colon carcinoma); suppression of tumorigenicity 14 (colon carcinoma, matriptase, epithin); suppressor of tumorigenicity 14 protein; TADG15; TMPRSS14; tumor associated differentially expressed gene 15 protein; tumor-associated differentially-expressed gene 15 protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11130,159,782 - 130,210,362 (+)EnsemblGRCh38hg38GRCh38
GRCh3811130,159,782 - 130,210,362 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711130,029,677 - 130,080,257 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611129,534,892 - 129,585,467 (+)NCBINCBI36hg18NCBI36
Build 3411129,534,932 - 129,585,466NCBI
Celera11127,197,379 - 127,248,136 (+)NCBI
Cytogenetic Map11q24.3NCBI
HuRef11125,980,949 - 126,032,941 (+)NCBIHuRef
CHM1_111129,915,529 - 129,966,064 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
butan-1-ol  (EXP)
calcitriol  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
cyclophosphamide  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
ethanol  (EXP)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
furan  (ISO)
hypochlorous acid  (ISO)
indole-3-methanol  (ISO)
isobutanol  (EXP)
L-methionine  (ISO)
leflunomide  (ISO)
menadione  (EXP)
mercury dibromide  (EXP)
mitomycin C  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
panobinostat  (EXP)
parathion  (EXP)
parathion-methyl  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
sodium dichromate  (ISO)
terbufos  (EXP)
Tesaglitazar  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:9925927   PMID:10373424   PMID:10373425   PMID:10500122   PMID:10831593   PMID:10962009   PMID:11125283   PMID:11290548   PMID:11792696   PMID:11864986   PMID:12372819   PMID:12477932  
PMID:12498394   PMID:12738778   PMID:14584072   PMID:14747469   PMID:15075215   PMID:15200890   PMID:15489334   PMID:15611789   PMID:16007225   PMID:16103220   PMID:16237759   PMID:16273651  
PMID:16341674   PMID:16353247   PMID:16407223   PMID:16794252   PMID:16820046   PMID:17131055   PMID:17228523   PMID:17273967   PMID:17344310   PMID:17389401   PMID:17940283   PMID:17978729  
PMID:17981566   PMID:17981575   PMID:18263585   PMID:18274158   PMID:18514224   PMID:18550704   PMID:18649735   PMID:18649738   PMID:18713750   PMID:18723439   PMID:18843291   PMID:19242518  
PMID:19535514   PMID:19546220   PMID:19578749   PMID:19911255   PMID:19940125   PMID:20015050   PMID:20142489   PMID:20145119   PMID:20379614   PMID:20601429   PMID:20652801   PMID:20696767  
PMID:20716618   PMID:20971737   PMID:21097670   PMID:21098708   PMID:21123732   PMID:21148558   PMID:21217780   PMID:21678412   PMID:21795523   PMID:21873635   PMID:21988832   PMID:22031598  
PMID:22035541   PMID:22081509   PMID:22088470   PMID:22118498   PMID:22154938   PMID:22514623   PMID:22582115   PMID:22783993   PMID:22811538   PMID:23044656   PMID:23192872   PMID:23248318  
PMID:23365447   PMID:23376485   PMID:23443661   PMID:23443662   PMID:23466486   PMID:23673661   PMID:23900022   PMID:24004857   PMID:24070417   PMID:24248283   PMID:24382204   PMID:24617769  
PMID:24696092   PMID:24705933   PMID:25640309   PMID:25730905   PMID:25786220   PMID:25873032   PMID:26157007   PMID:26513078   PMID:26996264   PMID:27167193   PMID:27316827   PMID:27356668  
PMID:27528224   PMID:28094766   PMID:28362108   PMID:29054928   PMID:29118397   PMID:29438412   PMID:29611532   PMID:29953855   PMID:30021884   PMID:30087389   PMID:30639242   PMID:30729623  
PMID:31980649   PMID:32241917   PMID:32326212   PMID:33094801  


Genomics

Comparative Map Data
ST14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl11130,159,782 - 130,210,362 (+)EnsemblGRCh38hg38GRCh38
GRCh3811130,159,782 - 130,210,362 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3711130,029,677 - 130,080,257 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611129,534,892 - 129,585,467 (+)NCBINCBI36hg18NCBI36
Build 3411129,534,932 - 129,585,466NCBI
Celera11127,197,379 - 127,248,136 (+)NCBI
Cytogenetic Map11q24.3NCBI
HuRef11125,980,949 - 126,032,941 (+)NCBIHuRef
CHM1_111129,915,529 - 129,966,064 (+)NCBICHM1_1
St14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39930,999,886 - 31,043,138 (-)NCBIGRCm39mm39
GRCm39 Ensembl931,000,698 - 31,043,149 (-)Ensembl
GRCm38931,088,590 - 31,131,811 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl931,089,402 - 31,131,853 (-)EnsemblGRCm38mm10GRCm38
MGSCv37930,896,175 - 30,939,384 (-)NCBIGRCm37mm9NCBIm37
MGSCv36930,838,155 - 30,881,364 (-)NCBImm8
Celera928,347,788 - 28,391,153 (-)NCBICelera
Cytogenetic Map9A4NCBI
cM Map916.61NCBI
St14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2829,540,805 - 29,581,704 (-)NCBI
Rnor_6.0 Ensembl832,240,133 - 32,280,869 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0832,240,113 - 32,280,813 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0832,266,158 - 32,305,925 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4830,916,769 - 30,932,214 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1830,925,535 - 30,940,977 (-)NCBI
Celera831,002,596 - 31,042,887 (-)NCBICelera
Cytogenetic Map8q13NCBI
St14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541231,090,504 - 31,129,050 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541231,091,313 - 31,129,050 (+)NCBIChiLan1.0ChiLan1.0
ST14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.111128,890,780 - 128,913,559 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11128,888,124 - 128,913,559 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v011125,001,771 - 125,021,371 (+)NCBIMhudiblu_PPA_v0panPan3
ST14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.154,652,493 - 4,666,728 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl54,651,863 - 4,691,069 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha54,713,365 - 4,749,564 (-)NCBI
ROS_Cfam_1.054,612,444 - 4,648,611 (-)NCBI
UMICH_Zoey_3.154,678,704 - 4,709,995 (-)NCBI
UNSW_CanFamBas_1.054,655,178 - 4,691,362 (-)NCBI
UU_Cfam_GSD_1.054,682,587 - 4,719,117 (-)NCBI
St14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947112,267,586 - 112,312,562 (+)NCBI
SpeTri2.0NW_0049365722,137,820 - 2,182,674 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ST14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl956,888,246 - 56,929,771 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1956,888,246 - 56,929,771 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2963,158,988 - 63,198,157 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ST14
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11121,238,666 - 121,290,528 (+)NCBI
ChlSab1.1 Ensembl1121,238,643 - 121,290,007 (+)Ensembl
St14
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248124,584,043 - 4,620,410 (+)NCBI

Position Markers
G54100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711130,080,029 - 130,080,166UniSTSGRCh37
Build 3611129,585,239 - 129,585,376RGDNCBI36
Celera11127,247,908 - 127,248,045RGD
Cytogenetic Map11q24-q25UniSTS
HuRef11126,032,713 - 126,032,850UniSTS
RH122645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711130,035,818 - 130,036,138UniSTSGRCh37
Build 3611129,541,028 - 129,541,348RGDNCBI36
Celera11127,203,515 - 127,203,835RGD
Cytogenetic Map11q24-q25UniSTS
HuRef11125,987,015 - 125,987,335UniSTS
TNG Radiation Hybrid Map1161749.0UniSTS
D6S2662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,687,395 - 32,687,567UniSTSGRCh37
Build 36632,795,373 - 32,795,545RGDNCBI36
Celera634,237,187 - 34,237,331RGD
HuRef11125,999,291 - 125,999,435UniSTS
HuRef632,430,914 - 32,431,058UniSTS
D6S2443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,687,347 - 32,687,586UniSTSGRCh37
GRCh37632,687,339 - 32,687,536UniSTSGRCh37
GRCh37632,687,343 - 32,687,545UniSTSGRCh37
Build 36632,795,321 - 32,795,523RGDNCBI36
Celera634,237,131 - 34,237,300UniSTS
Celera634,237,135 - 34,237,309RGD
Celera634,237,139 - 34,237,350UniSTS
Cytogenetic Map11q24-q25UniSTS
HuRef632,430,858 - 32,431,027UniSTS
HuRef11125,999,322 - 125,999,491UniSTS
HuRef11125,999,313 - 125,999,487UniSTS
HuRef632,430,862 - 32,431,036UniSTS
HuRef11125,999,272 - 125,999,483UniSTS
HuRef632,430,866 - 32,431,077UniSTS
6-38576  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37632,687,376 - 32,687,595UniSTSGRCh37
Build 36632,795,354 - 32,795,573RGDNCBI36
Celera634,237,168 - 34,237,359RGD
HuRef11125,999,263 - 125,999,454UniSTS
HuRef632,430,895 - 32,431,086UniSTS
D6S2662  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11q24-q25UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR27Bhsa-miR-27b-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Northern blFunctional MTI19546220
MIR27Bhsa-miR-27b-3pMirecordsexternal_info{changed}NA19546220
MIR27Bhsa-miR-27b-3pOncomiRDBexternal_infoNANA19546220

Predicted Target Of
Summary Value
Count of predictions:1263
Count of miRNA genes:718
Interacting mature miRNAs:826
Transcripts:ENST00000278742, ENST00000524718, ENST00000530376, ENST00000530532
Prediction methods:Microtar, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 5 13
Medium 975 457 1115 277 966 120 1651 17 306 336 605 1495 170 201 723 4
Low 1356 1956 586 336 622 336 1719 1091 2180 56 739 60 2 992 1155
Below cutoff 97 567 18 8 242 8 937 1058 1183 22 90 43 11 902 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000278742   ⟹   ENSP00000278742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11130,159,782 - 130,210,362 (+)Ensembl
RefSeq Acc Id: ENST00000524718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11130,190,041 - 130,196,794 (+)Ensembl
RefSeq Acc Id: ENST00000530376
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11130,190,223 - 130,196,610 (+)Ensembl
RefSeq Acc Id: ENST00000530532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl11130,189,325 - 130,196,436 (+)Ensembl
RefSeq Acc Id: NM_021978   ⟹   NP_068813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811130,159,782 - 130,210,362 (+)NCBI
GRCh3711130,029,682 - 130,080,257 (+)ENTREZGENE
Build 3611129,534,892 - 129,585,467 (+)NCBI Archive
HuRef11125,980,949 - 126,032,941 (+)ENTREZGENE
CHM1_111129,915,529 - 129,966,064 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_068813   ⟸   NM_021978
- UniProtKB: Q9Y5Y6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000278742   ⟸   ENST00000278742
Protein Domains
CUB   LDL-receptor class A   Peptidase S1   SEA

Promoters
RGD ID:6814509
Promoter ID:HG_XEF:1689
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_001005075,   NM_001076538,   NM_001087597,   NM_001094590
Position:
Human AssemblyChrPosition (strand)Source
Build 3611129,563,146 - 129,563,646 (+)MPROMDB
RGD ID:7222649
Promoter ID:EPDNEW_H17070
Type:initiation region
Name:ST14_1
Description:suppression of tumorigenicity 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811130,159,782 - 130,159,842EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_021978.4(ST14):c.2479G>A (p.Gly827Arg) single nucleotide variant Ichthyosis, congenital, autosomal recessive 11 [RCV000004253] Chr11:130209734 [GRCh38]
Chr11:130079629 [GRCh37]
Chr11:11q24.3
pathogenic
NM_021978.4(ST14):c.3G>A (p.Met1Ile) single nucleotide variant Ichthyosis, congenital, autosomal recessive 11 [RCV000004254] Chr11:130159982 [GRCh38]
Chr11:130029877 [GRCh37]
Chr11:11q24.3
pathogenic
NM_021978.4(ST14):c.2269+1G>A single nucleotide variant Ichthyosis, congenital, autosomal recessive 11 [RCV000114359] Chr11:130208685 [GRCh38]
Chr11:130078580 [GRCh37]
Chr11:11q24.3
pathogenic
NM_021978.4(ST14):c.2034del (p.Leu678fs) deletion Ichthyosis, congenital, autosomal recessive 11 [RCV000114360] Chr11:130208449 [GRCh38]
Chr11:130078344 [GRCh37]
Chr11:11q24.3
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1 copy number loss See cases [RCV000050843] Chr11:127604660..134998454 [GRCh38]
Chr11:127474555..134868348 [GRCh37]
Chr11:126979765..134373558 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1 copy number loss See cases [RCV000050865] Chr11:124155723..134998513 [GRCh38]
Chr11:124026430..134868407 [GRCh37]
Chr11:123531640..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1 copy number loss See cases [RCV000050905] Chr11:119433909..134998513 [GRCh38]
Chr11:119304619..134868407 [GRCh37]
Chr11:118809829..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3 copy number gain See cases [RCV000051162] Chr11:126445805..134998513 [GRCh38]
Chr11:126315700..134868407 [GRCh37]
Chr11:125820910..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119215032-134998654)x1 copy number loss See cases [RCV000052715] Chr11:119215032..134998654 [GRCh38]
Chr11:119085742..134868548 [GRCh37]
Chr11:118590952..134373758 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1 copy number loss See cases [RCV000052716] Chr11:120507265..134576266 [GRCh38]
Chr11:120377974..134446160 [GRCh37]
Chr11:119883184..133951370 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1 copy number loss See cases [RCV000052741] Chr11:126433740..135040246 [GRCh38]
Chr11:126303635..134910140 [GRCh37]
Chr11:125808845..134415350 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1 copy number loss See cases [RCV000052742] Chr11:129700536..134998513 [GRCh38]
Chr11:129570431..134868407 [GRCh37]
Chr11:129075641..134373617 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1 copy number loss See cases [RCV000052743] Chr11:130060292..135040246 [GRCh38]
Chr11:129930187..134910140 [GRCh37]
Chr11:129435397..134415350 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 copy number gain See cases [RCV000053643] Chr11:120236432..135040246 [GRCh38]
Chr11:120107141..134910140 [GRCh37]
Chr11:119612351..134415350 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123753493-134998513)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053645]|See cases [RCV000053645] Chr11:123753493..134998513 [GRCh38]
Chr11:123624201..134868407 [GRCh37]
Chr11:123129411..134373617 [NCBI36]
Chr11:11q24.1-25
pathogenic
NM_021978.3(ST14):c.223C>T (p.Leu75=) single nucleotide variant Malignant melanoma [RCV000069251] Chr11:130188255 [GRCh38]
Chr11:130058150 [GRCh37]
Chr11:129563360 [NCBI36]
Chr11:11q24.3
not provided
NM_021978.3(ST14):c.1648T>A (p.Cys550Ser) single nucleotide variant Malignant melanoma [RCV000069252] Chr11:130198585 [GRCh38]
Chr11:130068480 [GRCh37]
Chr11:129573690 [NCBI36]
Chr11:11q24.3
not provided
NM_021978.3(ST14):c.1932C>T (p.Ser644=) single nucleotide variant Malignant melanoma [RCV000062172] Chr11:130200075 [GRCh38]
Chr11:130069970 [GRCh37]
Chr11:129575180 [NCBI36]
Chr11:11q24.3
not provided
GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1 copy number loss See cases [RCV000663397] Chr11:125937383..134934063 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_021978.4(ST14):c.1314C>T (p.Thr438=) single nucleotide variant not provided [RCV001310625] Chr11:130196660 [GRCh38]
Chr11:130066555 [GRCh37]
Chr11:11q24.3
likely benign
GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1 copy number loss See cases [RCV000134731] Chr11:124205225..134998526 [GRCh38]
Chr11:124075932..134868420 [GRCh37]
Chr11:123581142..134373630 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1 copy number loss See cases [RCV000134708] Chr11:123799938..134998526 [GRCh38]
Chr11:123670646..134868420 [GRCh37]
Chr11:123175856..134373630 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1 copy number loss See cases [RCV000136595] Chr11:126046358..134998513 [GRCh38]
Chr11:125916253..134868407 [GRCh37]
Chr11:125421463..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1 copy number loss See cases [RCV000136612] Chr11:125241472..134998513 [GRCh38]
Chr11:125111368..134868407 [GRCh37]
Chr11:124616578..134373617 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|conflicting data from submitters
GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1 copy number loss See cases [RCV000137719] Chr11:127564482..135075271 [GRCh38]
Chr11:127434377..134945165 [GRCh37]
Chr11:126939587..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1 copy number loss See cases [RCV000138014] Chr11:121780459..135075271 [GRCh38]
Chr11:121651167..134945165 [GRCh37]
Chr11:121156377..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1 copy number loss See cases [RCV000138163] Chr11:126046358..135075271 [GRCh38]
Chr11:125916253..134945165 [GRCh37]
Chr11:125421463..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1 copy number loss See cases [RCV000138675] Chr11:124940059..135075271 [GRCh38]
Chr11:124809955..134945165 [GRCh37]
Chr11:124315165..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic|likely benign
GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1 copy number loss See cases [RCV000138373] Chr11:120515759..135075271 [GRCh38]
Chr11:120386468..134945165 [GRCh37]
Chr11:119891678..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1 copy number loss See cases [RCV000138544] Chr11:123963074..135075271 [GRCh38]
Chr11:123833781..134945165 [GRCh37]
Chr11:123338991..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1 copy number loss See cases [RCV000138947] Chr11:119424297..135075271 [GRCh38]
Chr11:119295007..134945165 [GRCh37]
Chr11:118800217..134450377 [NCBI36]
Chr11:11q23.3-25
pathogenic|likely benign
GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1 copy number loss See cases [RCV000139117] Chr11:126199589..135075271 [GRCh38]
Chr11:126069484..134945165 [GRCh37]
Chr11:125574694..134450377 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1 copy number loss See cases [RCV000139907] Chr11:124315025..134818116 [GRCh38]
Chr11:124184921..134688010 [GRCh37]
Chr11:123690131..134193220 [NCBI36]
Chr11:11q24.2-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:128867946-133086998)x1 copy number loss See cases [RCV000139715] Chr11:128867946..133086998 [GRCh38]
Chr11:128737841..132956893 [GRCh37]
Chr11:128243051..132462103 [NCBI36]
Chr11:11q24.3-25
likely pathogenic
GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1 copy number loss See cases [RCV000139622] Chr11:121689052..135075271 [GRCh38]
Chr11:121559760..134945165 [GRCh37]
Chr11:121064970..134450377 [NCBI36]
Chr11:11q24.1-25
pathogenic|likely benign
GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1 copy number loss See cases [RCV000142210] Chr11:121806547..135068576 [GRCh38]
Chr11:121677255..134938470 [GRCh37]
Chr11:121182465..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1 copy number loss See cases [RCV000142185] Chr11:121611476..135068576 [GRCh38]
Chr11:121482185..134938470 [GRCh37]
Chr11:120987395..134443680 [NCBI36]
Chr11:11q24.1-25
pathogenic
GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1 copy number loss See cases [RCV000143755] Chr11:127915964..135068576 [GRCh38]
Chr11:127785859..134938470 [GRCh37]
Chr11:127291069..134443680 [NCBI36]
Chr11:11q24.3-25
pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119807473-134868407)x1 copy number loss See cases [RCV000240237] Chr11:119807473..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120615374-134868407)x1 copy number loss See cases [RCV000239781] Chr11:120615374..134868407 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1 copy number loss See cases [RCV000511335] Chr11:121416261..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126631558-134868407)x1 copy number loss See cases [RCV000240313] Chr11:126631558..134868407 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125446101-134904063) copy number loss 11q partial monosomy syndrome [RCV000767602] Chr11:125446101..134904063 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125662934-134938470)x1 copy number loss See cases [RCV000447129] Chr11:125662934..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119513909-134938470)x1 copy number loss See cases [RCV000447077] Chr11:119513909..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121501072-134868348)x1 copy number loss See cases [RCV000445814] Chr11:121501072..134868348 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:121559102-134938470)x1 copy number loss See cases [RCV000449003] Chr11:121559102..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122403610-134938470)x1 copy number loss See cases [RCV000448215] Chr11:122403610..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q24.3(chr11:130059954-130108459)x3 copy number gain See cases [RCV000447974] Chr11:130059954..130108459 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q24.3-25(chr11:129721809-134938470)x1 copy number loss See cases [RCV000511052] Chr11:129721809..134938470 [GRCh37]
Chr11:11q24.3-25
pathogenic
GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3 copy number gain See cases [RCV000511146] Chr11:122884694..134938470 [GRCh37]
Chr11:11q24.1-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1 copy number loss See cases [RCV000511283] Chr11:120527021..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1 copy number loss See cases [RCV000511303] Chr11:126762944..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1 copy number loss See cases [RCV000510856] Chr11:121136603..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_021978.4(ST14):c.893C>A (p.Pro298His) single nucleotide variant not provided [RCV000520395] Chr11:130194166 [GRCh38]
Chr11:130064061 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_021978.4(ST14):c.1215C>T (p.Asn405=) single nucleotide variant Ichthyosis, congenital, autosomal recessive 11 [RCV000613645] Chr11:130196440 [GRCh38]
Chr11:130066335 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1113+15G>A single nucleotide variant Ichthyosis, congenital, autosomal recessive 11 [RCV000607725] Chr11:130194752 [GRCh38]
Chr11:130064647 [GRCh37]
Chr11:11q24.3
benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:127690585-132404117)x1 copy number loss not provided [RCV000683367] Chr11:127690585..132404117 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1 copy number loss not provided [RCV000683368] Chr11:129072293..134938470 [GRCh37]
Chr11:11q24.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1 copy number loss not provided [RCV000683371] Chr11:119538664..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25
likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:126362042-134938470)x3 copy number gain not provided [RCV000737697] Chr11:126362042..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:127751691-134938470)x3 copy number gain not provided [RCV000737699] Chr11:127751691..134938470 [GRCh37]
Chr11:11q24.2-25
benign
GRCh37/hg19 11q24.2-25(chr11:125366454-134938470)x1 copy number loss not provided [RCV000750223] Chr11:125366454..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.3(chr11:130050822-130084543)x3 copy number gain not provided [RCV000750234] Chr11:130050822..130084543 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1863G>A (p.Ala621=) single nucleotide variant not provided [RCV000936391] Chr11:130200006 [GRCh38]
Chr11:130069901 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1034G>A (p.Arg345His) single nucleotide variant not provided [RCV000906741] Chr11:130194658 [GRCh38]
Chr11:130064553 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1048A>G (p.Thr350Ala) single nucleotide variant not provided [RCV000972848] Chr11:130194672 [GRCh38]
Chr11:130064567 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1260C>T (p.Ser420=) single nucleotide variant not provided [RCV000972849] Chr11:130196606 [GRCh38]
Chr11:130066501 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1470C>T (p.Ala490=) single nucleotide variant not provided [RCV000905115] Chr11:130198318 [GRCh38]
Chr11:130068213 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.2304C>T (p.Ile768=) single nucleotide variant not provided [RCV000905774] Chr11:130209476 [GRCh38]
Chr11:130079371 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.512G>A (p.Arg171His) single nucleotide variant not provided [RCV000905833] Chr11:130189810 [GRCh38]
Chr11:130059705 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1684+7C>T single nucleotide variant not provided [RCV000972077] Chr11:130198628 [GRCh38]
Chr11:130068523 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1807+7A>G single nucleotide variant not provided [RCV000904742] Chr11:130199076 [GRCh38]
Chr11:130068971 [GRCh37]
Chr11:11q24.3
likely benign
GRCh37/hg19 11q24.2-24.3(chr11:126809705-130289168) copy number loss not provided [RCV000767568] Chr11:126809705..130289168 [GRCh37]
Chr11:11q24.2-24.3
pathogenic
NM_021978.4(ST14):c.2269+3A>G single nucleotide variant not provided [RCV000952698] Chr11:130208687 [GRCh38]
Chr11:130078582 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV000916563] Chr11:130188212 [GRCh38]
Chr11:130058107 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.1729G>A (p.Gly577Arg) single nucleotide variant not provided [RCV000962231] Chr11:130198991 [GRCh38]
Chr11:130068886 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.585A>C (p.Ser195=) single nucleotide variant not provided [RCV000922695] Chr11:130189883 [GRCh38]
Chr11:130059778 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.508G>A (p.Glu170Lys) single nucleotide variant not provided [RCV000952974] Chr11:130189806 [GRCh38]
Chr11:130059701 [GRCh37]
Chr11:11q24.3
likely benign|conflicting interpretations of pathogenicity
NM_021978.4(ST14):c.550C>T (p.Arg184Trp) single nucleotide variant not provided [RCV000916386] Chr11:130189848 [GRCh38]
Chr11:130059743 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.798G>A (p.Ala266=) single nucleotide variant not provided [RCV000886815] Chr11:130190617 [GRCh38]
Chr11:130060512 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.454A>G (p.Ile152Val) single nucleotide variant not provided [RCV000965859] Chr11:130189752 [GRCh38]
Chr11:130059647 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.598+9G>A single nucleotide variant not provided [RCV000932241] Chr11:130189905 [GRCh38]
Chr11:130059800 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.315C>T (p.Tyr105=) single nucleotide variant not provided [RCV000962230] Chr11:130188603 [GRCh38]
Chr11:130058498 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.2004C>T (p.Asp668=) single nucleotide variant not provided [RCV000904937] Chr11:130208419 [GRCh38]
Chr11:130078314 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.1464C>T (p.Cys488=) single nucleotide variant not provided [RCV000885644] Chr11:130198312 [GRCh38]
Chr11:130068207 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.557G>A (p.Arg186His) single nucleotide variant Severe Myopia [RCV000785692] Chr11:130189855 [GRCh38]
Chr11:130059750 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_021978.4(ST14):c.1627C>G (p.Gln543Glu) single nucleotide variant not provided [RCV001092305] Chr11:130198564 [GRCh38]
Chr11:130068459 [GRCh37]
Chr11:11q24.3
uncertain significance
GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1 copy number loss See cases [RCV000790567] Chr11:120576984..134934063 [GRCh37]
Chr11:11q23.3-25
pathogenic
GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1 copy number loss not provided [RCV001006452] Chr11:120742540..134938470 [GRCh37]
Chr11:11q23.3-25
pathogenic
NM_021978.4(ST14):c.2357C>T (p.Pro786Leu) single nucleotide variant not provided [RCV000885219] Chr11:130209529 [GRCh38]
Chr11:130079424 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.804C>T (p.Cys268=) single nucleotide variant not provided [RCV000909745] Chr11:130190623 [GRCh38]
Chr11:130060518 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.522C>T (p.Ala174=) single nucleotide variant not provided [RCV000923577] Chr11:130189820 [GRCh38]
Chr11:130059715 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.2160G>A (p.Pro720=) single nucleotide variant not provided [RCV000908137] Chr11:130208575 [GRCh38]
Chr11:130078470 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1223+10C>T single nucleotide variant not provided [RCV000886963] Chr11:130196458 [GRCh38]
Chr11:130066353 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1554C>T (p.Ser518=) single nucleotide variant not provided [RCV000898945] Chr11:130198402 [GRCh38]
Chr11:130068297 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.1341C>T (p.Tyr447=) single nucleotide variant not provided [RCV000910506] Chr11:130196687 [GRCh38]
Chr11:130066582 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.238C>T (p.Gln80Ter) single nucleotide variant not provided [RCV001092304] Chr11:130188270 [GRCh38]
Chr11:130058165 [GRCh37]
Chr11:11q24.3
likely pathogenic
NM_021978.4(ST14):c.1542C>T (p.Cys514=) single nucleotide variant not provided [RCV000890016] Chr11:130198390 [GRCh38]
Chr11:130068285 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1015+9G>C single nucleotide variant not provided [RCV000933795] Chr11:130194297 [GRCh38]
Chr11:130064192 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.708C>T (p.Ser236=) single nucleotide variant not provided [RCV000913580] Chr11:130190527 [GRCh38]
Chr11:130060422 [GRCh37]
Chr11:11q24.3
benign
NM_021978.4(ST14):c.1408C>T (p.Arg470Cys) single nucleotide variant not provided [RCV000912366] Chr11:130197894 [GRCh38]
Chr11:130067789 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.2463C>T (p.Ala821=) single nucleotide variant not provided [RCV000912947] Chr11:130209718 [GRCh38]
Chr11:130079613 [GRCh37]
Chr11:11q24.3
likely benign
NM_021978.4(ST14):c.1365dup (p.Gln456fs) duplication not provided [RCV001009323] Chr11:130197847..130197848 [GRCh38]
Chr11:130067742..130067743 [GRCh37]
Chr11:11q24.3
likely pathogenic
Single allele deletion Paris-Trousseau thrombocytopenia [RCV001003843] Chr11:124226940..134944477 [GRCh37]
Chr11:11q24.2-25
pathogenic
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25
likely pathogenic
GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1 copy number loss not provided [RCV001006454] Chr11:124232608..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1 copy number loss not provided [RCV001258504] Chr11:125785487..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic
NM_021978.4(ST14):c.1315G>A (p.Gly439Ser) single nucleotide variant Ichthyosis, congenital, autosomal recessive 11 [RCV001257918] Chr11:130196661 [GRCh38]
Chr11:130066556 [GRCh37]
Chr11:11q24.3
likely pathogenic
GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1 copy number loss not provided [RCV001258505] Chr11:127602115..134938470 [GRCh37]
Chr11:11q24.2-25
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11344 AgrOrtholog
COSMIC ST14 COSMIC
Ensembl Genes ENSG00000149418 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000278742 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000278742 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.290 UniProtKB/Swiss-Prot
  3.30.70.960 UniProtKB/Swiss-Prot
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149418 GTEx
HGNC ID HGNC:11344 ENTREZGENE
Human Proteome Map ST14 Human Proteome Map
InterPro CUB_dom UniProtKB/Swiss-Prot
  LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLR_class-A_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A_matripase UniProtKB/Swiss-Prot
  SEA_dom UniProtKB/Swiss-Prot
  SEA_dom_sf UniProtKB/Swiss-Prot
  Sperma_CUB_dom_sf UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6768 UniProtKB/Swiss-Prot
NCBI Gene 6768 ENTREZGENE
OMIM 602400 OMIM
  606797 OMIM
Pfam CUB UniProtKB/Swiss-Prot
  Ldl_recept_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEA UniProtKB/Swiss-Prot
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36168 PharmGKB
PIRSF ST14 UniProtKB/Swiss-Prot
PRINTS LDLRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CUB UniProtKB/Swiss-Prot
  LDLRA_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDLRA_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SEA UniProtKB/Swiss-Prot
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CUB UniProtKB/Swiss-Prot
  LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49854 UniProtKB/Swiss-Prot
  SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82671 UniProtKB/Swiss-Prot
UniProt Q8WVC1_HUMAN UniProtKB/TrEMBL
  Q9Y5Y6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9BS01 UniProtKB/Swiss-Prot
  Q9H3S0 UniProtKB/Swiss-Prot
  Q9HB36 UniProtKB/Swiss-Prot
  Q9HCA3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-25 ST14  ST14 transmembrane serine protease matriptase  ST14  suppression of tumorigenicity 14  Symbol and/or name change 19259463 PROVISIONAL
2015-11-24 ST14  suppression of tumorigenicity 14    suppression of tumorigenicity 14 (colon carcinoma)  Symbol and/or name change 5135510 APPROVED
2011-08-16 ST14  suppression of tumorigenicity 14 (colon carcinoma)  ST14  suppression of tumorigenicity 14 (colon carcinoma)  Symbol and/or name change 5135510 APPROVED