MED30 (mediator complex subunit 30) - Rat Genome Database

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Gene: MED30 (mediator complex subunit 30) Homo sapiens
Analyze
Symbol: MED30
Name: mediator complex subunit 30
RGD ID: 1319681
HGNC Page HGNC
Description: Exhibits thyroid hormone receptor binding activity and transcription coactivator activity. Involved in positive regulation of transcription initiation from RNA polymerase II promoter. Localizes to mediator complex.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: MED30S; mediator of RNA polymerase II transcription subunit 30; MGC9890; putative mediator of RNA polymerase II transcription subunit 30; THRAP6; thyroid hormone receptor associated protein 6; thyroid hormone receptor-associated protein 6; thyroid hormone receptor-associated protein complex 25 kDa component; TRAP/Mediator complex component TRAP25; TRAP25
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 Ensembl8117,520,713 - 117,540,262 (+)EnsemblGRCh38hg38GRCh38
GRCh388117,520,713 - 117,540,262 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378118,532,952 - 118,552,501 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,602,211 - 118,621,682 (+)NCBINCBI36hg18NCBI36
Build 348118,602,210 - 118,621,680NCBI
Celera8114,721,685 - 114,741,221 (+)NCBI
Cytogenetic Map8q24.11NCBI
HuRef8113,859,613 - 113,879,149 (+)NCBIHuRef
CHM1_18118,573,270 - 118,592,817 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:10198638   PMID:10235266   PMID:10235267   PMID:11591653   PMID:11867769   PMID:11909976   PMID:12136098   PMID:12218053   PMID:12477932   PMID:12584197   PMID:14638676   PMID:15175163  
PMID:15489334   PMID:15989967   PMID:18691967   PMID:20133760   PMID:20211142   PMID:20493979   PMID:20508642   PMID:21729782   PMID:21784977   PMID:21832049   PMID:21873635   PMID:22446961  
PMID:23322298   PMID:23602568   PMID:24981860   PMID:25100719   PMID:25281560   PMID:25416956   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27609421   PMID:28514442   PMID:29187445  
PMID:29511261   PMID:29568061   PMID:29656893   PMID:29661722   PMID:30021884   PMID:30196744   PMID:30415952   PMID:32296183   PMID:32416067   PMID:32814053  


Genomics

Comparative Map Data
MED30
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8117,520,713 - 117,540,262 (+)EnsemblGRCh38hg38GRCh38
GRCh388117,520,713 - 117,540,262 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378118,532,952 - 118,552,501 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368118,602,211 - 118,621,682 (+)NCBINCBI36hg18NCBI36
Build 348118,602,210 - 118,621,680NCBI
Celera8114,721,685 - 114,741,221 (+)NCBI
Cytogenetic Map8q24.11NCBI
HuRef8113,859,613 - 113,879,149 (+)NCBIHuRef
CHM1_18118,573,270 - 118,592,817 (+)NCBICHM1_1
Med30
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391552,575,841 - 52,593,827 (+)NCBIGRCm39mm39
GRCm39 Ensembl1552,575,804 - 52,593,960 (+)Ensembl
GRCm381552,712,445 - 52,730,431 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1552,712,408 - 52,730,564 (+)EnsemblGRCm38mm10GRCm38
MGSCv371552,544,000 - 52,561,986 (+)NCBIGRCm37mm9NCBIm37
MGSCv361552,542,528 - 52,560,514 (+)NCBImm8
Celera1554,277,463 - 54,295,921 (+)NCBICelera
Cytogenetic Map15CNCBI
Med30
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2784,004,710 - 84,028,064 (+)NCBI
Rnor_6.0 Ensembl792,234,597 - 92,256,100 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0792,234,584 - 92,260,019 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0792,876,545 - 92,898,052 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4788,997,614 - 89,019,354 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1788,643,578 - 89,040,049 (+)NCBI
Celera780,859,688 - 80,881,276 (+)NCBICelera
Cytogenetic Map7q31NCBI
Med30
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541723,538,809 - 23,559,611 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541723,538,984 - 23,557,837 (+)NCBIChiLan1.0ChiLan1.0
MED30
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18116,732,720 - 116,752,249 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8116,732,283 - 116,752,249 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08114,211,278 - 114,230,838 (+)NCBIMhudiblu_PPA_v0panPan3
MED30
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11316,928,166 - 16,949,503 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1316,928,161 - 16,949,295 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1316,929,444 - 16,950,575 (+)NCBI
ROS_Cfam_1.01317,224,651 - 17,245,829 (+)NCBI
UMICH_Zoey_3.11316,961,103 - 16,982,249 (+)NCBI
UNSW_CanFamBas_1.01317,061,445 - 17,082,607 (+)NCBI
UU_Cfam_GSD_1.01317,305,755 - 17,326,852 (+)NCBI
Med30
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530321,372,257 - 21,391,244 (-)NCBI
SpeTri2.0NW_00493647028,798,356 - 28,822,143 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MED30
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl421,194,930 - 21,215,618 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1421,198,740 - 21,215,634 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2422,441,049 - 22,457,942 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MED30
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18112,162,112 - 112,181,630 (+)NCBI
ChlSab1.1 Ensembl8112,162,149 - 112,181,585 (+)Ensembl
Med30
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476315,831,359 - 15,847,761 (+)NCBI

Position Markers
RH48821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378118,552,265 - 118,552,437UniSTSGRCh37
Build 368118,621,446 - 118,621,618RGDNCBI36
Celera8114,740,985 - 114,741,157RGD
Cytogenetic Map8q24.11UniSTS
HuRef8113,878,913 - 113,879,085UniSTS
GeneMap99-GB4 RH Map8466.59UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:317
Count of miRNA genes:157
Interacting mature miRNAs:169
Transcripts:ENST00000297347, ENST00000519391, ENST00000519879, ENST00000522839
Prediction methods:Miranda, 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 adipose tissue appendage entire extraembryonic component
High
Medium 2209 1922 1288 314 1599 188 3614 1062 2106 219 1414 1589 139 1199 2075 3
Low 224 1064 437 308 350 276 742 1133 1616 199 36 20 31 5 713 1
Below cutoff 1 1 1 1 9 1 8 3 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000297347   ⟹   ENSP00000297347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,520,713 - 117,540,262 (+)Ensembl
RefSeq Acc Id: ENST00000519391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,530,364 - 117,540,002 (+)Ensembl
RefSeq Acc Id: ENST00000519879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,520,764 - 117,528,905 (+)Ensembl
RefSeq Acc Id: ENST00000522839   ⟹   ENSP00000431051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8117,520,833 - 117,539,978 (+)Ensembl
RefSeq Acc Id: NM_001282986   ⟹   NP_001269915
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,520,713 - 117,540,262 (+)NCBI
HuRef8113,859,600 - 113,879,149 (+)NCBI
CHM1_18118,573,270 - 118,592,817 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363182   ⟹   NP_001350111
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,520,713 - 117,538,361 (+)NCBI
RefSeq Acc Id: NM_080651   ⟹   NP_542382
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,520,713 - 117,540,262 (+)NCBI
GRCh378118,532,532 - 118,552,510 (+)NCBI
Build 368118,602,211 - 118,621,682 (+)NCBI Archive
Celera8114,721,685 - 114,741,221 (+)RGD
HuRef8113,859,600 - 113,879,149 (+)NCBI
CHM1_18118,573,270 - 118,592,817 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_542382   ⟸   NM_080651
- Peptide Label: isoform 1
- UniProtKB: Q96HR3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269915   ⟸   NM_001282986
- Peptide Label: isoform 2
- UniProtKB: Q96HR3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001350111   ⟸   NM_001363182
- Peptide Label: isoform 3
RefSeq Acc Id: ENSP00000297347   ⟸   ENST00000297347
RefSeq Acc Id: ENSP00000431051   ⟸   ENST00000522839

Promoters
RGD ID:7214039
Promoter ID:EPDNEW_H12765
Type:initiation region
Name:MED30_1
Description:mediator complex subunit 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12766  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,520,732 - 117,520,792EPDNEW
RGD ID:7214041
Promoter ID:EPDNEW_H12766
Type:initiation region
Name:MED30_2
Description:mediator complex subunit 30
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12765  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388117,520,866 - 117,520,926EPDNEW
RGD ID:6806868
Promoter ID:HG_KWN:61965
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC003YOJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368118,601,831 - 118,602,331 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.11(chr8:117409337-117879798)x1 copy number loss See cases [RCV000143549] Chr8:117409337..117879798 [GRCh38]
Chr8:118421576..118892037 [GRCh37]
Chr8:118490757..118961218 [NCBI36]
Chr8:8q24.11
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.11(chr8:117714768-119072307)x1 copy number loss See cases [RCV000240065] Chr8:117714768..119072307 [GRCh37]
Chr8:8q24.11
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q23.3-24.11(chr8:116902507-118942698)x1 copy number loss See cases [RCV000448534] Chr8:116902507..118942698 [GRCh37]
Chr8:8q23.3-24.11
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8q23.2-24.12(chr8:111137305-119897611)x1 copy number loss See cases [RCV000512409] Chr8:111137305..119897611 [GRCh37]
Chr8:8q23.2-24.12
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.11-24.12(chr8:118466438-119966333)x1 copy number loss not provided [RCV001006135] Chr8:118466438..119966333 [GRCh37]
Chr8:8q24.11-24.12
pathogenic
NM_080651.4(MED30):c.73G>T (p.Ala25Ser) single nucleotide variant not provided [RCV000956666] Chr8:117520949 [GRCh38]
Chr8:118533188 [GRCh37]
Chr8:8q24.11
benign
GRCh37/hg19 8q24.11(chr8:118214380-118884778)x3 copy number gain not provided [RCV001006134] Chr8:118214380..118884778 [GRCh37]
Chr8:8q24.11
uncertain significance
GRCh37/hg19 8q24.11(chr8:118513760-118636771)x4 copy number gain not provided [RCV001259029] Chr8:118513760..118636771 [GRCh37]
Chr8:8q24.11
uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23032 AgrOrtholog
COSMIC MED30 COSMIC
Ensembl Genes ENSG00000164758 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000297347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431051 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297347 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522839 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000164758 GTEx
HGNC ID HGNC:23032 ENTREZGENE
Human Proteome Map MED30 Human Proteome Map
InterPro Mediator_Med30_met UniProtKB/Swiss-Prot
KEGG Report hsa:90390 UniProtKB/Swiss-Prot
NCBI Gene 90390 ENTREZGENE
OMIM 610237 OMIM
PANTHER PTHR31705 UniProtKB/Swiss-Prot
Pfam Med30 UniProtKB/Swiss-Prot
PharmGKB PA162395656 PharmGKB
UniProt MED30_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary C6GKU9 UniProtKB/Swiss-Prot