MROH6 (maestro heat like repeat family member 6) - Rat Genome Database

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Gene: MROH6 (maestro heat like repeat family member 6) Homo sapiens
Analyze
Symbol: MROH6
Name: maestro heat like repeat family member 6
RGD ID: 1603139
HGNC Page HGNC
Description: ASSOCIATED WITH autosomal recessive non-syndromic intellectual disability; INTERACTS WITH 17beta-estradiol; aflatoxin B1; all-trans-retinoic acid
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8orf73; maestro heat-like repeat family member 6; maestro heat-like repeat-containing protein family member 6; putative uncharacterized protein C8orf73
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 Ensembl8143,566,192 - 143,572,772 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,566,189 - 143,572,772 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,648,362 - 144,654,942 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,719,505 - 144,726,071 (-)NCBINCBI36hg18NCBI36
Celera8140,958,618 - 140,965,169 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,899,739 - 139,906,458 (-)NCBIHuRef
CHM1_18144,688,572 - 144,695,162 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Additional References at PubMed
PMID:9776767   PMID:12477932   PMID:16344560   PMID:26496610   PMID:26673895   PMID:30639242  


Genomics

Comparative Map Data
MROH6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,566,192 - 143,572,772 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,566,189 - 143,572,772 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,648,362 - 144,654,942 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,719,505 - 144,726,071 (-)NCBINCBI36hg18NCBI36
Celera8140,958,618 - 140,965,169 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,899,739 - 139,906,458 (-)NCBIHuRef
CHM1_18144,688,572 - 144,695,162 (-)NCBICHM1_1
Mroh6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,753,085 - 75,762,544 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,755,986 - 75,760,619 (-)Ensembl
GRCm381575,881,867 - 75,890,693 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,884,137 - 75,888,770 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,714,567 - 75,719,153 (-)NCBIGRCm37mm9NCBIm37
Celera1577,383,915 - 77,389,704 (-)NCBICelera
Cytogenetic Map15D3NCBI
Mroh6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,566,212 - 107,576,469 (-)NCBI
Rnor_6.0 Ensembl7116,915,888 - 116,920,507 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,914,826 - 116,921,487 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,806,795 - 116,812,693 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,858,182 - 113,862,801 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7103,925,489 - 103,932,151 (-)NCBICelera
Cytogenetic Map7q34NCBI
Mroh6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,274,074 - 2,278,756 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,273,127 - 2,279,674 (-)NCBIChiLan1.0ChiLan1.0
MROH6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,335,453 - 143,341,221 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08140,319,049 - 140,327,986 (-)NCBIMhudiblu_PPA_v0panPan3
MROH6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,229,270 - 37,234,677 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,229,886 - 37,234,609 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,185,628 - 37,191,172 (-)NCBI
ROS_Cfam_1.01337,700,965 - 37,706,510 (-)NCBI
UMICH_Zoey_3.11337,375,302 - 37,380,845 (-)NCBI
UNSW_CanFamBas_1.01337,492,259 - 37,497,798 (-)NCBI
UU_Cfam_GSD_1.01337,973,432 - 37,978,983 (-)NCBI
Mroh6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,133,001 - 1,138,350 (+)NCBI
SpeTri2.0NW_0049364708,559,368 - 8,564,425 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MROH6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4988,384 - 993,815 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14988,367 - 994,613 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,047,340 - 1,052,340 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MROH6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,786,500 - 137,793,567 (-)NCBI
ChlSab1.1 Ensembl8137,787,542 - 137,792,830 (-)Ensembl
Mroh6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,176,828 - 13,185,174 (+)NCBI

Position Markers
RH99218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,648,409 - 144,648,567UniSTSGRCh37
Build 368144,719,552 - 144,719,710RGDNCBI36
Celera8140,958,665 - 140,958,823RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,899,786 - 139,899,944UniSTS
GeneMap99-GB4 RH Map8546.79UniSTS
D8S2072  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,645,037 - 144,645,185UniSTSGRCh37
Build 368144,716,180 - 144,716,328RGDNCBI36
Celera8140,955,291 - 140,955,439RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,896,412 - 139,896,560UniSTS
WI-8705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,645,037 - 144,645,158UniSTSGRCh37
Build 368144,716,180 - 144,716,301RGDNCBI36
Celera8140,955,291 - 140,955,412RGD
Cytogenetic Map8q24.3UniSTS
HuRef8139,896,412 - 139,896,533UniSTS
GeneMap99-GB4 RH Map8563.95UniSTS
Whitehead-RH Map8712.2UniSTS
NCBI RH Map81600.7UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4989
Count of miRNA genes:842
Interacting mature miRNAs:1006
Transcripts:ENST00000398882, ENST00000524906, ENST00000529971, ENST00000532704, ENST00000532862, ENST00000533083, ENST00000533120, ENST00000533210, ENST00000533582, ENST00000533679, ENST00000534459
Prediction methods:Microtar, 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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 318 426 109 84 603 60 1328 37 399 52 625 412 35 35 704
Low 2112 2399 1611 538 1319 402 2678 1688 3246 360 828 1193 136 1169 1735 5 2
Below cutoff 5 162 6 2 27 3 350 470 78 7 4 6 2 1 349

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001100878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC067930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF289596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL040647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM148864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX341537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD579780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB003146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN831781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000398882   ⟹   ENSP00000381857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,566,192 - 143,572,772 (-)Ensembl
RefSeq Acc Id: ENST00000524906   ⟹   ENSP00000435528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,566,198 - 143,568,854 (-)Ensembl
RefSeq Acc Id: ENST00000529971   ⟹   ENSP00000436959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,568,587 - 143,572,748 (-)Ensembl
RefSeq Acc Id: ENST00000532704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,566,195 - 143,567,886 (-)Ensembl
RefSeq Acc Id: ENST00000532862   ⟹   ENSP00000436284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,567,372 - 143,568,860 (-)Ensembl
RefSeq Acc Id: ENST00000533083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,567,369 - 143,568,843 (-)Ensembl
RefSeq Acc Id: ENST00000533120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,566,211 - 143,567,111 (-)Ensembl
RefSeq Acc Id: ENST00000533210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,566,192 - 143,568,757 (-)Ensembl
RefSeq Acc Id: ENST00000533582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,568,153 - 143,568,665 (-)Ensembl
RefSeq Acc Id: ENST00000533679   ⟹   ENSP00000434244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,566,192 - 143,569,750 (-)Ensembl
RefSeq Acc Id: ENST00000534459   ⟹   ENSP00000431569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,566,302 - 143,568,887 (-)Ensembl
RefSeq Acc Id: NM_001100878   ⟹   NP_001094348
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,192 - 143,572,772 (-)NCBI
GRCh378144,648,362 - 144,654,928 (-)RGD
Build 368144,719,505 - 144,726,071 (-)NCBI Archive
Celera8140,958,618 - 140,965,169 (-)RGD
HuRef8139,899,739 - 139,906,458 (-)ENTREZGENE
CHM1_18144,688,572 - 144,695,162 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716615   ⟹   XP_006716678
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,568,148 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517214   ⟹   XP_011515516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,189 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517215   ⟹   XP_011515517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,189 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517216   ⟹   XP_011515518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,189 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517217   ⟹   XP_011515519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,189 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517218   ⟹   XP_011515520
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,192 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517219   ⟹   XP_011515521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,567,796 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517220   ⟹   XP_011515522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,567,799 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517221   ⟹   XP_011515523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,189 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517222   ⟹   XP_011515524
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,189 - 143,572,752 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517223   ⟹   XP_011515525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,566,189 - 143,572,752 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001094348   ⟸   NM_001100878
- UniProtKB: A6NGR9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716678   ⟸   XM_006716615
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011515517   ⟸   XM_011517215
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515525   ⟸   XM_011517223
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011515524   ⟸   XM_011517222
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011515519   ⟸   XM_011517217
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011515516   ⟸   XM_011517214
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515520   ⟸   XM_011517218
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515523   ⟸   XM_011517221
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011515518   ⟸   XM_011517216
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515521   ⟸   XM_011517219
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011515522   ⟸   XM_011517220
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000381857   ⟸   ENST00000398882
RefSeq Acc Id: ENSP00000436284   ⟸   ENST00000532862
RefSeq Acc Id: ENSP00000434244   ⟸   ENST00000533679
RefSeq Acc Id: ENSP00000431569   ⟸   ENST00000534459
RefSeq Acc Id: ENSP00000435528   ⟸   ENST00000524906
RefSeq Acc Id: ENSP00000436959   ⟸   ENST00000529971

Promoters
RGD ID:7214363
Promoter ID:EPDNEW_H12923
Type:initiation region
Name:MROH6_1
Description:maestro heat like repeat family member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12924  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,568,677 - 143,568,737EPDNEW
RGD ID:7214355
Promoter ID:EPDNEW_H12924
Type:initiation region
Name:MROH6_2
Description:maestro heat like repeat family member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12923  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,568,907 - 143,568,967EPDNEW
RGD ID:6813360
Promoter ID:HG_ACW:79337
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:C8ORF73.DAPR07,   C8ORF73.EAPR07,   C8ORF73.FAPR07,   C8ORF73.GAPR07,   C8ORF73.HAPR07,   C8ORF73.IAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,721,911 - 144,722,411 (-)MPROMDB
RGD ID:6813359
Promoter ID:HG_ACW:79338
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:C8ORF73.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,722,626 - 144,723,126 (-)MPROMDB
RGD ID:6806538
Promoter ID:HG_KWN:62266
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000398882,   UC010MFG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368144,725,816 - 144,726,492 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
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 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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
NM_145201.5(NAPRT):c.838C>T (p.Pro280Ser) single nucleotide variant Malignant melanoma [RCV000068194] Chr8:143576689 [GRCh38]
Chr8:144658859 [GRCh37]
Chr8:144730002 [NCBI36]
Chr8:8q24.3
not provided
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 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
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 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 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
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 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 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 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
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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 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 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
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 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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
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 8q24.3(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621035-144713934)x0 copy number loss not provided [RCV000747936] Chr8:144621035..144713934 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144621839-144694067)x3 copy number gain not provided [RCV000747938] Chr8:144621839..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144685178)x3 copy number gain not provided [RCV000747939] Chr8:144623574..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144687901)x3 copy number gain not provided [RCV000747940] Chr8:144623574..144687901 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144623574-144694067)x3 copy number gain not provided [RCV000747941] Chr8:144623574..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144651881)x3 copy number gain not provided [RCV000747943] Chr8:144641370..144651881 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144685178)x3 copy number gain not provided [RCV000747944] Chr8:144641370..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144694067)x3 copy number gain not provided [RCV000747945] Chr8:144641370..144694067 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641370-144695499)x3 copy number gain not provided [RCV000747946] Chr8:144641370..144695499 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144641949-144688309)x3 copy number gain not provided [RCV000747947] Chr8:144641949..144688309 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144650013)x3 copy number gain not provided [RCV000747949] Chr8:144642054..144650013 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144685178)x3 copy number gain not provided [RCV000747950] Chr8:144642054..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642054-144686512)x3 copy number gain not provided [RCV000747951] Chr8:144642054..144686512 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144642918-144685178)x3 copy number gain not provided [RCV000747953] Chr8:144642918..144685178 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644648-144689146)x3 copy number gain not provided [RCV000747954] Chr8:144644648..144689146 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644686-144672215)x3 copy number gain not provided [RCV000747955] Chr8:144644686..144672215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144644970-144672215)x3 copy number gain not provided [RCV000747956] Chr8:144644970..144672215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile) single nucleotide variant Autosomal recessive non-syndromic intellectual disability [RCV000758206] Chr8:143567640 [GRCh38]
Chr8:144649810 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
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 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27814 AgrOrtholog
COSMIC MROH6 COSMIC
Ensembl Genes ENSG00000204839 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000277781 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000381857 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431569 UniProtKB/TrEMBL
  ENSP00000434244 UniProtKB/TrEMBL
  ENSP00000435528 UniProtKB/TrEMBL
  ENSP00000436959 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000479227 UniProtKB/Swiss-Prot
  ENSP00000488703 UniProtKB/TrEMBL
Ensembl Transcript ENST00000398882 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524906 UniProtKB/TrEMBL
  ENST00000529971 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000533679 UniProtKB/TrEMBL
  ENST00000534459 UniProtKB/TrEMBL
  ENST00000618551 UniProtKB/Swiss-Prot
  ENST00000633027 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000204839 GTEx
  ENSG00000277781 GTEx
HGNC ID HGNC:27814 ENTREZGENE
Human Proteome Map MROH6 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot
  ARM-type_fold UniProtKB/Swiss-Prot
KEGG Report hsa:642475 UniProtKB/Swiss-Prot
NCBI Gene 642475 ENTREZGENE
PharmGKB PA142672336 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
UniProt A6NGR9 ENTREZGENE
  E9PJR4_HUMAN UniProtKB/TrEMBL
  E9PPP7_HUMAN UniProtKB/TrEMBL
  MROH6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MWB1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 MROH6  maestro heat like repeat family member 6    maestro heat-like repeat family member 6  Symbol and/or name change 5135510 APPROVED
2012-12-25 MROH6  maestro heat-like repeat family member 6  C8orf73  chromosome 8 open reading frame 73  Symbol and/or name change 5135510 APPROVED