MED14 (mediator complex subunit 14) - Rat Genome Database

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Gene: MED14 (mediator complex subunit 14) Homo sapiens
Analyze
Symbol: MED14
Name: mediator complex subunit 14
RGD ID: 1343127
HGNC Page HGNC
Description: Exhibits transcription coactivator activity. Involved in positive regulation of transcription initiation from RNA polymerase II promoter. Localizes to mediator complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: activator-recruited cofactor 150 kDa component; ARC150; cofactor required for Sp1 transcriptional activation subunit 2; cofactor required for Sp1 transcriptional activation, subunit 2 (150kD); CRSP complex subunit 2; CRSP150; CRSP2; CSRP; CXorf4; DRIP150; EXLM1; hRGR1; human homolog of yeast RGR1; mediator of RNA polymerase II transcription subunit 14; MGC104513; RGR1; RGR1 homolog; thyroid hormone receptor-associated protein complex 170 kDa component; thyroid hormone receptor-associated protein complex component TRAP170; transcriptional co-activator CRSP150; transcriptional coactivator CRSP150; TRAP170; vitamin D receptor-interacting protein complex component DRIP150; vitamin D3 receptor-interacting protein complex 150 kDa component
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: MED14P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX40,648,305 - 40,735,858 (-)EnsemblGRCh38hg38GRCh38
GRCh38X40,648,305 - 40,736,122 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X40,507,557 - 40,594,794 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X40,393,739 - 40,479,748 (-)NCBINCBI36hg18NCBI36
Build 34X40,263,811 - 40,351,037NCBI
CeleraX44,649,421 - 44,734,350 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,238,905 - 38,324,580 (-)NCBIHuRef
CHM1_1X40,540,939 - 40,626,911 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8619474   PMID:8710870   PMID:9110174   PMID:9598311   PMID:9734358   PMID:9989412   PMID:10024883   PMID:10198638   PMID:10235266   PMID:10235267   PMID:10508170   PMID:10753860  
PMID:10770935   PMID:10882111   PMID:11416138   PMID:11834832   PMID:11867769   PMID:12037571   PMID:12089346   PMID:12101254   PMID:12218053   PMID:12477932   PMID:12509459   PMID:12825353  
PMID:14576168   PMID:14636573   PMID:14638676   PMID:14657022   PMID:14702039   PMID:15175163   PMID:15302935   PMID:15604093   PMID:15625066   PMID:15989967   PMID:16109376   PMID:16204234  
PMID:16239144   PMID:16239257   PMID:16799563   PMID:17081983   PMID:17132730   PMID:17306756   PMID:17474147   PMID:18187620   PMID:18418385   PMID:18854154   PMID:18976975   PMID:19946888  
PMID:20098423   PMID:20133760   PMID:20194623   PMID:20508642   PMID:21729782   PMID:21873635   PMID:22939629   PMID:23275444   PMID:23322298   PMID:23563140   PMID:23572530   PMID:23602568  
PMID:23746844   PMID:24163370   PMID:24882805   PMID:24952135   PMID:25100719   PMID:25281560   PMID:25383669   PMID:25720964   PMID:25737280   PMID:25792360   PMID:25798074   PMID:25921289  
PMID:26186194   PMID:26318153   PMID:26344197   PMID:26496610   PMID:27684187   PMID:27703004   PMID:28481362   PMID:28514442   PMID:28813667   PMID:29507755   PMID:29509190   PMID:29511261  
PMID:29568061   PMID:29656893   PMID:29955894   PMID:30033366   PMID:31091453   PMID:31365120   PMID:31527615   PMID:31560077   PMID:32416067  


Genomics

Comparative Map Data
MED14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX40,648,305 - 40,735,858 (-)EnsemblGRCh38hg38GRCh38
GRCh38X40,648,305 - 40,736,122 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X40,507,557 - 40,594,794 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X40,393,739 - 40,479,748 (-)NCBINCBI36hg18NCBI36
Build 34X40,263,811 - 40,351,037NCBI
CeleraX44,649,421 - 44,734,350 (-)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,238,905 - 38,324,580 (-)NCBIHuRef
CHM1_1X40,540,939 - 40,626,911 (-)NCBICHM1_1
Med14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X12,541,607 - 12,628,813 (-)NCBIGRCm39mm39
GRCm39 EnsemblX12,541,608 - 12,628,312 (-)Ensembl
GRCm38X12,675,368 - 12,762,594 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX12,675,369 - 12,762,073 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X12,252,497 - 12,339,099 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X11,836,708 - 11,919,032 (-)NCBImm8
CeleraX10,369,353 - 10,456,055 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
Med14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X10,036,749 - 10,127,910 (+)NCBI
Rnor_6.0 EnsemblX10,963,809 - 11,082,565 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X10,964,035 - 11,082,403 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X11,762,671 - 11,880,963 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X22,116,986 - 22,205,877 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX10,562,309 - 10,650,954 (+)NCBICelera
Cytogenetic MapXq12NCBI
Med14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555651,888,443 - 1,959,141 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555651,888,442 - 1,959,141 (+)NCBIChiLan1.0ChiLan1.0
MED14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X40,800,526 - 40,886,291 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX40,798,363 - 40,886,270 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X33,097,206 - 33,183,322 (-)NCBIMhudiblu_PPA_v0panPan3
MED14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X35,125,270 - 35,191,260 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX35,125,774 - 35,191,122 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX22,474,041 - 22,539,564 (-)NCBI
ROS_Cfam_1.0X35,174,164 - 35,239,687 (-)NCBI
UMICH_Zoey_3.1X35,253,230 - 35,318,741 (-)NCBI
UNSW_CanFamBas_1.0X35,225,934 - 35,291,428 (-)NCBI
UU_Cfam_GSD_1.0X35,268,730 - 35,334,253 (-)NCBI
Med14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X27,440,116 - 27,510,048 (-)NCBI
SpeTri2.0NW_0049365027,280,606 - 7,350,750 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MED14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX36,354,061 - 36,424,715 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X36,354,057 - 36,424,837 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X40,452,288 - 40,523,049 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MED14
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X37,810,996 - 37,898,114 (-)NCBI
ChlSab1.1 EnsemblX37,810,710 - 37,897,929 (-)Ensembl
Vero_WHO_p1.0NW_0236660763,008,786 - 3,096,622 (-)NCBI
Med14
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476214,832,485 - 14,903,119 (+)NCBI

Position Markers
G49442  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,572,177 - 40,572,245UniSTSGRCh37
Build 36X40,457,121 - 40,457,189RGDNCBI36
CeleraX44,711,304 - 44,711,372RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,301,898 - 38,301,966UniSTS
G06191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,513,132 - 40,513,391UniSTSGRCh37
Build 36X40,398,076 - 40,398,335RGDNCBI36
CeleraX44,653,015 - 44,653,274RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,243,204 - 38,243,463UniSTS
DXS6731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,525,032 - 40,525,281UniSTSGRCh37
Build 36X40,409,976 - 40,410,225RGDNCBI36
CeleraX44,664,944 - 44,665,193RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,255,102 - 38,255,351UniSTS
DXS9714  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,576,619 - 40,576,748UniSTSGRCh37
Build 36X40,461,563 - 40,461,692RGDNCBI36
Cytogenetic MapXp11.4UniSTS
TNG Radiation Hybrid MapX10900.0UniSTS
DXS7582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,513,190 - 40,513,303UniSTSGRCh37
Build 36X40,398,134 - 40,398,247RGDNCBI36
CeleraX44,653,073 - 44,653,186RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,243,262 - 38,243,375UniSTS
GeneMap99-GB4 RH MapX122.03UniSTS
NCBI RH MapX143.5UniSTS
STS-AA011019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,594,258 - 40,594,482UniSTSGRCh37
Build 36X40,479,202 - 40,479,426RGDNCBI36
CeleraX44,733,804 - 44,734,028RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,324,034 - 38,324,258UniSTS
GeneMap99-GB4 RH MapX119.82UniSTS
NCBI RH MapX144.6UniSTS
STS-H16735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,510,807 - 40,511,041UniSTSGRCh37
Build 36X40,395,751 - 40,395,985RGDNCBI36
CeleraX44,650,690 - 44,650,924RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,240,879 - 38,241,113UniSTS
GeneMap99-GB4 RH MapX124.97UniSTS
WI-15558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,508,849 - 40,508,951UniSTSGRCh37
Build 36X40,393,793 - 40,393,895RGDNCBI36
Cytogenetic MapXp11.4UniSTS
HuRefX38,238,959 - 38,239,061UniSTS
GeneMap99-GB4 RH MapX120.92UniSTS
Whitehead-RH MapX39.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2147
Count of miRNA genes:1076
Interacting mature miRNAs:1296
Transcripts:ENST00000324817, ENST00000416199, ENST00000433003, ENST00000463072, ENST00000472736, ENST00000482034, ENST00000492219, ENST00000495865, ENST00000496531
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1356 1315 1030 142 1058 101 3986 1227 1354 240 946 1508 55 690 2644 2
Low 1083 1669 696 482 888 364 370 968 2379 179 514 105 120 1 514 144 3 2
Below cutoff 7 5 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB006651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB006652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF135802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF304448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG518165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324817   ⟹   ENSP00000323720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,648,305 - 40,735,542 (-)Ensembl
RefSeq Acc Id: ENST00000416199   ⟹   ENSP00000392586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,649,543 - 40,659,334 (-)Ensembl
RefSeq Acc Id: ENST00000433003   ⟹   ENSP00000411357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,653,872 - 40,664,451 (-)Ensembl
RefSeq Acc Id: ENST00000463072
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,726,528 - 40,729,540 (-)Ensembl
RefSeq Acc Id: ENST00000472736
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,659,227 - 40,659,819 (-)Ensembl
RefSeq Acc Id: ENST00000482034
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,713,832 - 40,735,858 (-)Ensembl
RefSeq Acc Id: ENST00000492219
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,713,878 - 40,715,051 (-)Ensembl
RefSeq Acc Id: ENST00000495865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,726,455 - 40,735,298 (-)Ensembl
RefSeq Acc Id: ENST00000496531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX40,675,221 - 40,682,913 (-)Ensembl
RefSeq Acc Id: NM_004229   ⟹   NP_004220
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,648,305 - 40,735,542 (-)NCBI
GRCh37X40,508,795 - 40,595,374 (-)NCBI
Build 36X40,393,739 - 40,479,748 (-)NCBI Archive
HuRefX38,238,905 - 38,324,580 (-)ENTREZGENE
CHM1_1X40,540,939 - 40,626,911 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272701   ⟹   XP_005272758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,649,702 - 40,736,122 (-)NCBI
GRCh37X40,508,795 - 40,595,374 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544000   ⟹   XP_011542302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,649,702 - 40,735,855 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029962   ⟹   XP_016885451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,649,702 - 40,735,324 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004220   ⟸   NM_004229
- UniProtKB: O60244 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005272758   ⟸   XM_005272701
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542302   ⟸   XM_011544000
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885451   ⟸   XM_017029962
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000392586   ⟸   ENST00000416199
RefSeq Acc Id: ENSP00000323720   ⟸   ENST00000324817
RefSeq Acc Id: ENSP00000411357   ⟸   ENST00000433003

Promoters
RGD ID:6808823
Promoter ID:HG_KWN:66471
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000324817,   OTTHUMT00000060688,   OTTHUMT00000060695,   UC010NHE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X40,479,461 - 40,480,102 (-)MPROMDB
RGD ID:13605074
Promoter ID:EPDNEW_H28721
Type:initiation region
Name:MED14_3
Description:mediator complex subunit 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28722  EPDNEW_H28723  EPDNEW_H28724  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,664,433 - 40,664,493EPDNEW
RGD ID:13605076
Promoter ID:EPDNEW_H28722
Type:initiation region
Name:MED14_4
Description:mediator complex subunit 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28721  EPDNEW_H28723  EPDNEW_H28724  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,735,366 - 40,735,426EPDNEW
RGD ID:13605078
Promoter ID:EPDNEW_H28723
Type:initiation region
Name:MED14_2
Description:mediator complex subunit 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28721  EPDNEW_H28722  EPDNEW_H28724  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,735,542 - 40,735,602EPDNEW
RGD ID:13605080
Promoter ID:EPDNEW_H28724
Type:initiation region
Name:MED14_1
Description:mediator complex subunit 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28721  EPDNEW_H28722  EPDNEW_H28723  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X40,735,884 - 40,735,944EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.4(chrX:40375929-40810369)x2 copy number gain See cases [RCV000054168] ChrX:40375929..40810369 [GRCh38]
ChrX:40235181..40669622 [GRCh37]
ChrX:40120125..40554566 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_004229.3(MED14):c.651T>C (p.Val217=) single nucleotide variant Malignant melanoma [RCV000073190] ChrX:40713779 [GRCh38]
ChrX:40573031 [GRCh37]
ChrX:40457975 [NCBI36]
ChrX:Xp11.4
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp11.4(chrX:40165688-40662855)x2 copy number gain See cases [RCV000135289] ChrX:40165688..40662855 [GRCh38]
ChrX:40024941..40522107 [GRCh37]
ChrX:39909885..40407051 [NCBI36]
ChrX:Xp11.4
likely pathogenic
GRCh38/hg38 Xp11.4(chrX:40075793-40934203)x2 copy number gain See cases [RCV000134897] ChrX:40075793..40934203 [GRCh38]
ChrX:39935046..40793456 [GRCh37]
ChrX:39819990..40678400 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3 copy number gain not provided [RCV000845673] ChrX:38056276..40565244 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004229.4(MED14):c.3936C>T (p.Ile1312=) single nucleotide variant not provided [RCV000943767] ChrX:40659263 [GRCh38]
ChrX:40518515 [GRCh37]
ChrX:Xp11.4
benign
NM_004229.4(MED14):c.4122G>A (p.Ser1374=) single nucleotide variant not provided [RCV000957771] ChrX:40654533 [GRCh38]
ChrX:40513785 [GRCh37]
ChrX:Xp11.4
benign
NM_004229.4(MED14):c.1812C>T (p.Thr604=) single nucleotide variant not provided [RCV000955996] ChrX:40692741 [GRCh38]
ChrX:40551993 [GRCh37]
ChrX:Xp11.4
benign
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_004229.4(MED14):c.3653G>T (p.Arg1218Leu) single nucleotide variant not provided [RCV001172204] ChrX:40662956 [GRCh38]
ChrX:40522208 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_004229.4(MED14):c.2860T>C (p.Tyr954His) single nucleotide variant Intellectual disability [RCV001252065] ChrX:40679884 [GRCh38]
ChrX:40539136 [GRCh37]
ChrX:Xp11.4
likely benign
NM_004229.4(MED14):c.3232A>G (p.Ile1078Val) single nucleotide variant Intellectual disability [RCV001252066] ChrX:40666753 [GRCh38]
ChrX:40526005 [GRCh37]
ChrX:Xp11.4
likely benign
NM_004229.4(MED14):c.1825A>G (p.Arg609Gly) single nucleotide variant Intellectual disability [RCV001252067] ChrX:40692728 [GRCh38]
ChrX:40551980 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2370 AgrOrtholog
COSMIC MED14 COSMIC
Ensembl Genes ENSG00000180182 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000323720 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392586 UniProtKB/TrEMBL
  ENSP00000411357 UniProtKB/TrEMBL
Ensembl Transcript ENST00000324817 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000416199 UniProtKB/TrEMBL
  ENST00000433003 UniProtKB/TrEMBL
GTEx ENSG00000180182 GTEx
HGNC ID HGNC:2370 ENTREZGENE
Human Proteome Map MED14 Human Proteome Map
InterPro Mediator_Med14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9282 UniProtKB/Swiss-Prot
NCBI Gene 9282 ENTREZGENE
OMIM 300182 OMIM
PANTHER PTHR12809 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Med14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26890 PharmGKB
UniProt H7C017_HUMAN UniProtKB/TrEMBL
  H7C3E5_HUMAN UniProtKB/TrEMBL
  MED14_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U4PZJ2_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q4KMR7 UniProtKB/Swiss-Prot
  Q9UNB3 UniProtKB/Swiss-Prot