MROH5 (maestro heat like repeat family member 5 (gene/pseudogene)) - Rat Genome Database

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Gene: MROH5 (maestro heat like repeat family member 5 (gene/pseudogene)) Homo sapiens
Analyze
Symbol: MROH5
Name: maestro heat like repeat family member 5 (gene/pseudogene)
RGD ID: 1602032
HGNC Page HGNC:42976
Description: Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC389690; maestro heat like repeat family member 5; maestro heat-like repeat family member 5; uncharacterized protein LOC389690
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Annotation category: suggests misassembly; Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388141,433,825 - 141,507,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8141,433,829 - 141,507,230 (-)EnsemblGRCh38hg38GRCh38
GRCh378142,443,925 - 142,517,329 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368142,513,111 - 142,586,512 (-)NCBINCBI36Build 36hg18NCBI36
Celera8138,610,353 - 138,681,759 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8137,798,003 - 137,836,354 (-)NCBIHuRef
HuRef8137,761,305 - 137,795,358 (-)NCBIHuRef
CHM1_18142,484,157 - 142,557,292 (-)NCBICHM1_1
T2T-CHM13v2.08142,561,183 - 142,635,781 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
cytoplasm  (IBA)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:18976975   PMID:21873635   PMID:21988832   PMID:23870195  


Genomics

Comparative Map Data
MROH5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388141,433,825 - 141,507,229 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8141,433,829 - 141,507,230 (-)EnsemblGRCh38hg38GRCh38
GRCh378142,443,925 - 142,517,329 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368142,513,111 - 142,586,512 (-)NCBINCBI36Build 36hg18NCBI36
Celera8138,610,353 - 138,681,759 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8137,798,003 - 137,836,354 (-)NCBIHuRef
HuRef8137,761,305 - 137,795,358 (-)NCBIHuRef
CHM1_18142,484,157 - 142,557,292 (-)NCBICHM1_1
T2T-CHM13v2.08142,561,183 - 142,635,781 (-)NCBIT2T-CHM13v2.0
Mroh5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391573,658,785 - 73,711,520 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1573,631,916 - 73,711,548 (-)EnsemblGRCm39 Ensembl
GRCm381573,786,936 - 73,839,671 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1573,760,067 - 73,839,699 (-)EnsemblGRCm38mm10GRCm38
MGSCv371573,617,366 - 73,670,101 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361573,614,191 - 73,666,926 (-)NCBIMGSCv36mm8
Celera1575,292,062 - 75,350,235 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1534.06NCBI
Mroh5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87107,551,767 - 107,626,899 (-)NCBIGRCr8
mRatBN7.27105,662,737 - 105,737,820 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7105,662,744 - 105,730,060 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.07115,003,594 - 115,079,728 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7115,033,025 - 115,045,802 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.07114,924,955 - 115,000,223 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47111,469,995 - 111,544,323 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7102,068,757 - 102,144,721 (-)NCBICelera
Cytogenetic Map7q34NCBI
Mroh5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955454442,757 - 504,231 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955454442,857 - 503,429 (-)NCBIChiLan1.0ChiLan1.0
LOC100987797
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27158,830,349 - 158,905,179 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18134,360,794 - 134,435,639 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08138,109,975 - 138,183,612 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18141,189,759 - 141,262,348 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8141,189,814 - 141,262,269 (-)Ensemblpanpan1.1panPan2
MROH5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11335,887,434 - 35,957,954 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1335,889,010 - 35,957,861 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1335,746,540 - 35,817,459 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01336,273,053 - 36,344,038 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1336,274,629 - 36,344,783 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11335,993,153 - 36,064,062 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01336,084,735 - 36,153,919 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01336,503,493 - 36,574,457 (-)NCBIUU_Cfam_GSD_1.0
LOC101965287
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053032,552,867 - 2,614,461 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364709,991,758 - 10,040,617 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MROH5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl42,282,120 - 2,343,887 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.142,282,120 - 2,344,176 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,538,079 - 1,569,070 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103237517
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18135,673,927 - 135,746,166 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8135,674,055 - 135,744,562 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660394,378,617 - 4,454,096 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mroh5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473514,914,479 - 14,961,747 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MROH5
153 total Variants

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(chr8:141131265-142117372)x3 copy number gain See cases [RCV000052186] Chr8:141131265..142117372 [GRCh38]
Chr8:142141364..143198733 [GRCh37]
Chr8:142210546..143196640 [NCBI36]
Chr8:8q24.3
uncertain significance
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 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 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 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 8q24.22-24.3(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 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 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 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
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 8q24.3(chr8:142438569-142482615) copy number gain Abnormal esophagus morphology [RCV000416898] Chr8:142438569..142482615 [GRCh37]
Chr8:8q24.3
benign
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 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_207414.3(MROH5):c.3455C>A (p.Ala1152Asp) single nucleotide variant not specified [RCV004311318] Chr8:141436013 [GRCh38]
Chr8:142446113 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.430C>T (p.Arg144Trp) single nucleotide variant not specified [RCV004330826] Chr8:141494916 [GRCh38]
Chr8:142505016 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3419C>T (p.Ala1140Val) single nucleotide variant not specified [RCV004311053] Chr8:141436049 [GRCh38]
Chr8:142446149 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3443A>T (p.Asp1148Val) single nucleotide variant not specified [RCV004286244] Chr8:141436025 [GRCh38]
Chr8:142446125 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.460G>A (p.Gly154Arg) single nucleotide variant not specified [RCV004293216] Chr8:141494886 [GRCh38]
Chr8:142504986 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.122G>T (p.Cys41Phe) single nucleotide variant not specified [RCV004331158] Chr8:141496460 [GRCh38]
Chr8:142506560 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1147T>C (p.Tyr383His) single nucleotide variant not specified [RCV004326454] Chr8:141478714 [GRCh38]
Chr8:142488814 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.37A>G (p.Thr13Ala) single nucleotide variant not specified [RCV004294171] Chr8:141507113 [GRCh38]
Chr8:142517213 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.3(chr8:141850516-143511413)x3 copy number gain See cases [RCV000512275] Chr8:141850516..143511413 [GRCh37]
Chr8:8q24.3
uncertain significance
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(chr8:142446260-143549805)x3 copy number gain not provided [RCV000683005] Chr8:142446260..143549805 [GRCh37]
Chr8:8q24.3
uncertain significance
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(chr8:142502403-142503214)x1 copy number loss not provided [RCV000747896] Chr8:142502403..142503214 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142502507-142503214)x1 copy number loss not provided [RCV000747897] Chr8:142502507..142503214 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142502519-142503214)x1 copy number loss not provided [RCV000747898] Chr8:142502519..142503214 [GRCh37]
Chr8:8q24.3
benign
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 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
NM_207414.3(MROH5):c.605G>A (p.Arg202Gln) single nucleotide variant not specified [RCV004295802] Chr8:141490209 [GRCh38]
Chr8:142500309 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_207414.3(MROH5):c.1120T>A (p.Trp374Arg) single nucleotide variant not specified [RCV004303657] Chr8:141478741 [GRCh38]
Chr8:142488841 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2003A>G (p.Lys668Arg) single nucleotide variant not specified [RCV004292479] Chr8:141471058 [GRCh38]
Chr8:142481158 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.2419C>T (p.Arg807Trp) single nucleotide variant not specified [RCV004281554] Chr8:141466467 [GRCh38]
Chr8:142476567 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1107C>A (p.Asp369Glu) single nucleotide variant not specified [RCV004294504] Chr8:141478754 [GRCh38]
Chr8:142488854 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) copy number gain Distal trisomy 8q [RCV003325441] Chr8:131138343..143473913 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142309348-143247742)x3 copy number gain not provided [RCV002472745] Chr8:142309348..143247742 [GRCh37]
Chr8:8q24.3
uncertain significance
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 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 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142326501-143237710) copy number gain not specified [RCV002053803] Chr8:142326501..143237710 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
NM_207414.3(MROH5):c.1009C>G (p.Arg337Gly) single nucleotide variant not specified [RCV004309117] Chr8:141479293 [GRCh38]
Chr8:142489393 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2674G>A (p.Glu892Lys) single nucleotide variant not specified [RCV004294644] Chr8:141448052 [GRCh38]
Chr8:142458152 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3602G>A (p.Arg1201Gln) single nucleotide variant not specified [RCV004233791] Chr8:141435203 [GRCh38]
Chr8:142445303 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3190G>A (p.Gly1064Ser) single nucleotide variant not specified [RCV004184936] Chr8:141440258 [GRCh38]
Chr8:142450358 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3409G>A (p.Gly1137Arg) single nucleotide variant not specified [RCV004204330] Chr8:141436059 [GRCh38]
Chr8:142446159 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.3749G>A (p.Cys1250Tyr) single nucleotide variant not specified [RCV004172988] Chr8:141434856 [GRCh38]
Chr8:142444956 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3839C>G (p.Thr1280Ser) single nucleotide variant not specified [RCV004164855] Chr8:141434568 [GRCh38]
Chr8:142444668 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3769A>T (p.Thr1257Ser) single nucleotide variant not specified [RCV004151454] Chr8:141434836 [GRCh38]
Chr8:142444936 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.148C>T (p.Arg50Cys) single nucleotide variant not specified [RCV004198396] Chr8:141496434 [GRCh38]
Chr8:142506534 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.3710A>G (p.His1237Arg) single nucleotide variant not specified [RCV004245878] Chr8:141434895 [GRCh38]
Chr8:142444995 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3857C>A (p.Thr1286Asn) single nucleotide variant not specified [RCV004106360] Chr8:141434058 [GRCh38]
Chr8:142444158 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1597C>T (p.Arg533Trp) single nucleotide variant not specified [RCV004196124] Chr8:141475996 [GRCh38]
Chr8:142486096 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.41C>T (p.Pro14Leu) single nucleotide variant not specified [RCV004229985] Chr8:141507109 [GRCh38]
Chr8:142517209 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3361C>T (p.Leu1121Phe) single nucleotide variant not specified [RCV004217734] Chr8:141436724 [GRCh38]
Chr8:142446824 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3457A>G (p.Met1153Val) single nucleotide variant not specified [RCV004144000] Chr8:141436011 [GRCh38]
Chr8:142446111 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1897C>A (p.Gln633Lys) single nucleotide variant not specified [RCV004114629] Chr8:141471164 [GRCh38]
Chr8:142481264 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1951C>T (p.Arg651Cys) single nucleotide variant not specified [RCV004200592] Chr8:141471110 [GRCh38]
Chr8:142481210 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3689G>A (p.Ser1230Asn) single nucleotide variant not specified [RCV004213064] Chr8:141434916 [GRCh38]
Chr8:142445016 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.91C>G (p.Pro31Ala) single nucleotide variant not specified [RCV004199940] Chr8:141496491 [GRCh38]
Chr8:142506591 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3008G>A (p.Arg1003His) single nucleotide variant not specified [RCV004235851] Chr8:141441213 [GRCh38]
Chr8:142451313 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3904G>A (p.Ala1302Thr) single nucleotide variant not specified [RCV004073991] Chr8:141434011 [GRCh38]
Chr8:142444111 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1645C>A (p.Leu549Ile) single nucleotide variant not specified [RCV004147860] Chr8:141475948 [GRCh38]
Chr8:142486048 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.641C>T (p.Thr214Met) single nucleotide variant not specified [RCV004130537] Chr8:141490173 [GRCh38]
Chr8:142500273 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2950G>C (p.Gly984Arg) single nucleotide variant not specified [RCV004172121] Chr8:141441649 [GRCh38]
Chr8:142451749 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3217G>A (p.Asp1073Asn) single nucleotide variant not specified [RCV004212334] Chr8:141440231 [GRCh38]
Chr8:142450331 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3526C>A (p.Leu1176Met) single nucleotide variant not specified [RCV004186747] Chr8:141435942 [GRCh38]
Chr8:142446042 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3415C>T (p.Arg1139Trp) single nucleotide variant not specified [RCV004218585] Chr8:141436053 [GRCh38]
Chr8:142446153 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2609A>G (p.Lys870Arg) single nucleotide variant not specified [RCV004079798] Chr8:141449618 [GRCh38]
Chr8:142459718 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3595C>T (p.Arg1199Cys) single nucleotide variant not specified [RCV004084038] Chr8:141435210 [GRCh38]
Chr8:142445310 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1766A>C (p.His589Pro) single nucleotide variant not specified [RCV004236426] Chr8:141472953 [GRCh38]
Chr8:142483053 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1649A>G (p.His550Arg) single nucleotide variant not specified [RCV004212289] Chr8:141475944 [GRCh38]
Chr8:142486044 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.718G>T (p.Asp240Tyr) single nucleotide variant not specified [RCV004214071] Chr8:141488583 [GRCh38]
Chr8:142498683 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1485G>C (p.Gln495His) single nucleotide variant not specified [RCV004102473] Chr8:141476108 [GRCh38]
Chr8:142486208 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1001C>T (p.Ala334Val) single nucleotide variant not specified [RCV004216301] Chr8:141479301 [GRCh38]
Chr8:142489401 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1798C>G (p.His600Asp) single nucleotide variant not specified [RCV004226777] Chr8:141472921 [GRCh38]
Chr8:142483021 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.189C>A (p.His63Gln) single nucleotide variant not specified [RCV004119469] Chr8:141496393 [GRCh38]
Chr8:142506493 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1433C>T (p.Ala478Val) single nucleotide variant not specified [RCV004203173] Chr8:141477415 [GRCh38]
Chr8:142487515 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.628A>T (p.Thr210Ser) single nucleotide variant not specified [RCV004073478] Chr8:141490186 [GRCh38]
Chr8:142500286 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3367G>A (p.Val1123Ile) single nucleotide variant not specified [RCV004223057] Chr8:141436718 [GRCh38]
Chr8:142446818 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.1525C>G (p.Leu509Val) single nucleotide variant not specified [RCV004231452] Chr8:141476068 [GRCh38]
Chr8:142486168 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1406G>A (p.Arg469Gln) single nucleotide variant not specified [RCV004224990] Chr8:141477442 [GRCh38]
Chr8:142487542 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2347C>T (p.Arg783Cys) single nucleotide variant not specified [RCV004079387] Chr8:141466539 [GRCh38]
Chr8:142476639 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.1766A>G (p.His589Arg) single nucleotide variant not specified [RCV004121551] Chr8:141472953 [GRCh38]
Chr8:142483053 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2436G>C (p.Glu812Asp) single nucleotide variant not specified [RCV004157910] Chr8:141466450 [GRCh38]
Chr8:142476550 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3293T>A (p.Val1098Glu) single nucleotide variant not specified [RCV004174810] Chr8:141436792 [GRCh38]
Chr8:142446892 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3303G>A (p.Met1101Ile) single nucleotide variant not specified [RCV004184023] Chr8:141436782 [GRCh38]
Chr8:142446882 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3239G>A (p.Gly1080Glu) single nucleotide variant not specified [RCV004173780] Chr8:141436846 [GRCh38]
Chr8:142446946 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3024C>G (p.Ser1008Arg) single nucleotide variant not specified [RCV004165738] Chr8:141441197 [GRCh38]
Chr8:142451297 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2072C>T (p.Ala691Val) single nucleotide variant not specified [RCV004147707] Chr8:141470697 [GRCh38]
Chr8:142480797 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1151G>A (p.Gly384Asp) single nucleotide variant not specified [RCV004196444] Chr8:141478710 [GRCh38]
Chr8:142488810 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3160A>C (p.Ser1054Arg) single nucleotide variant not specified [RCV004165778] Chr8:141440288 [GRCh38]
Chr8:142450388 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.544G>A (p.Glu182Lys) single nucleotide variant not specified [RCV004092365] Chr8:141490270 [GRCh38]
Chr8:142500370 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1616C>T (p.Thr539Met) single nucleotide variant not specified [RCV004147184] Chr8:141475977 [GRCh38]
Chr8:142486077 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.2811C>G (p.Ser937Arg) single nucleotide variant not specified [RCV004215964] Chr8:141447915 [GRCh38]
Chr8:142458015 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1604G>A (p.Arg535Gln) single nucleotide variant not specified [RCV004205522] Chr8:141475989 [GRCh38]
Chr8:142486089 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2924C>T (p.Thr975Ile) single nucleotide variant not specified [RCV004244441] Chr8:141441675 [GRCh38]
Chr8:142451775 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3172C>T (p.Arg1058Cys) single nucleotide variant not specified [RCV004195651] Chr8:141440276 [GRCh38]
Chr8:142450376 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.431G>A (p.Arg144Gln) single nucleotide variant not specified [RCV004094358] Chr8:141494915 [GRCh38]
Chr8:142505015 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1055G>A (p.Ser352Asn) single nucleotide variant not specified [RCV004173364] Chr8:141479247 [GRCh38]
Chr8:142489347 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2515C>A (p.Gln839Lys) single nucleotide variant not specified [RCV004197724] Chr8:141449712 [GRCh38]
Chr8:142459812 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1652G>T (p.Cys551Phe) single nucleotide variant not specified [RCV004158396] Chr8:141475941 [GRCh38]
Chr8:142486041 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1204G>A (p.Val402Met) single nucleotide variant not specified [RCV004223321] Chr8:141478657 [GRCh38]
Chr8:142488757 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.559G>A (p.Asp187Asn) single nucleotide variant not specified [RCV004280223] Chr8:141490255 [GRCh38]
Chr8:142500355 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3854G>A (p.Arg1285His) single nucleotide variant not specified [RCV004252106] Chr8:141434553 [GRCh38]
Chr8:142444653 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3823C>A (p.Leu1275Met) single nucleotide variant not specified [RCV004269114] Chr8:141434584 [GRCh38]
Chr8:142444684 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3329G>A (p.Arg1110His) single nucleotide variant not specified [RCV004271034] Chr8:141436756 [GRCh38]
Chr8:142446856 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3154G>A (p.Asp1052Asn) single nucleotide variant not specified [RCV004260817] Chr8:141440294 [GRCh38]
Chr8:142450394 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2499G>T (p.Arg833Ser) single nucleotide variant not specified [RCV004280410] Chr8:141449728 [GRCh38]
Chr8:142459828 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2522C>T (p.Thr841Met) single nucleotide variant not specified [RCV004270516] Chr8:141449705 [GRCh38]
Chr8:142459805 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3765G>C (p.Trp1255Cys) single nucleotide variant not specified [RCV004279107] Chr8:141434840 [GRCh38]
Chr8:142444940 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3577C>T (p.Arg1193Cys) single nucleotide variant not specified [RCV004257681] Chr8:141435228 [GRCh38]
Chr8:142445328 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.91C>T (p.Pro31Ser) single nucleotide variant not specified [RCV004252392] Chr8:141496491 [GRCh38]
Chr8:142506591 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2584G>A (p.Ala862Thr) single nucleotide variant not specified [RCV004269224] Chr8:141449643 [GRCh38]
Chr8:142459743 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2864C>T (p.Thr955Met) single nucleotide variant not specified [RCV004255540] Chr8:141441735 [GRCh38]
Chr8:142451835 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3173G>A (p.Arg1058His) single nucleotide variant not specified [RCV004290941] Chr8:141440275 [GRCh38]
Chr8:142450375 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2671C>T (p.Arg891Trp) single nucleotide variant not specified [RCV004334965] Chr8:141448055 [GRCh38]
Chr8:142458155 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1973G>A (p.Ser658Asn) single nucleotide variant not specified [RCV004344699] Chr8:141471088 [GRCh38]
Chr8:142481188 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1315G>A (p.Ala439Thr) single nucleotide variant not specified [RCV004342199] Chr8:141477826 [GRCh38]
Chr8:142487926 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3938C>T (p.Ser1313Leu) single nucleotide variant not specified [RCV004349511] Chr8:141433977 [GRCh38]
Chr8:142444077 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2951G>T (p.Gly984Val) single nucleotide variant not specified [RCV004363239] Chr8:141441648 [GRCh38]
Chr8:142451748 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1535C>T (p.Ala512Val) single nucleotide variant not specified [RCV004355926] Chr8:141476058 [GRCh38]
Chr8:142486158 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.2581G>A (p.Gly861Ser) single nucleotide variant not specified [RCV004335482] Chr8:141449646 [GRCh38]
Chr8:142459746 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.303C>A (p.Asp101Glu) single nucleotide variant not specified [RCV004358553] Chr8:141495443 [GRCh38]
Chr8:142505543 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:141825923-142558013)x4 copy number gain not provided [RCV003485353] Chr8:141825923..142558013 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:141419599-146295771)x3 copy number gain not provided [RCV003484752] Chr8:141419599..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142452829-142859811)x3 copy number gain not provided [RCV003484753] Chr8:142452829..142859811 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1591G>A (p.Val531Met) single nucleotide variant not provided [RCV003440701] Chr8:141476002 [GRCh38]
Chr8:142486102 [GRCh37]
Chr8:8q24.3
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
NM_207414.3(MROH5):c.44C>T (p.Thr15Met) single nucleotide variant not specified [RCV004497156] Chr8:141507106 [GRCh38]
Chr8:142517206 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.723G>T (p.Lys241Asn) single nucleotide variant not specified [RCV004497183] Chr8:141488578 [GRCh38]
Chr8:142498678 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1811G>A (p.Arg604Gln) single nucleotide variant not specified [RCV004496883] Chr8:141472908 [GRCh38]
Chr8:142483008 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3364G>C (p.Gly1122Arg) single nucleotide variant not specified [RCV004497064] Chr8:141436721 [GRCh38]
Chr8:142446821 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3485G>A (p.Arg1162Gln) single nucleotide variant not specified [RCV004497094] Chr8:141435983 [GRCh38]
Chr8:142446083 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1853A>G (p.His618Arg) single nucleotide variant not specified [RCV004496885] Chr8:141472866 [GRCh38]
Chr8:142482966 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2551G>C (p.Ala851Pro) single nucleotide variant not specified [RCV004496951] Chr8:141449676 [GRCh38]
Chr8:142459776 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3133G>A (p.Val1045Met) single nucleotide variant not specified [RCV004497003] Chr8:141440315 [GRCh38]
Chr8:142450415 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.994G>C (p.Gly332Arg) single nucleotide variant not specified [RCV004497194] Chr8:141479308 [GRCh38]
Chr8:142489408 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2018T>C (p.Leu673Ser) single nucleotide variant not specified [RCV004496908] Chr8:141470751 [GRCh38]
Chr8:142480851 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.2080T>G (p.Trp694Gly) single nucleotide variant not specified [RCV004496913] Chr8:141470689 [GRCh38]
Chr8:142480789 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.245G>T (p.Gly82Val) single nucleotide variant not specified [RCV004496938] Chr8:141496337 [GRCh38]
Chr8:142506437 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.92C>G (p.Pro31Arg) single nucleotide variant not specified [RCV004497189] Chr8:141496490 [GRCh38]
Chr8:142506590 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3308C>T (p.Thr1103Ile) single nucleotide variant not specified [RCV004497047] Chr8:141436777 [GRCh38]
Chr8:142446877 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1364T>C (p.Met455Thr) single nucleotide variant not specified [RCV004504346] Chr8:141477777 [GRCh38]
Chr8:142487877 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1373T>C (p.Met458Thr) single nucleotide variant not specified [RCV004504351] Chr8:141477475 [GRCh38]
Chr8:142487575 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1033G>A (p.Val345Ile) single nucleotide variant not specified [RCV004504298] Chr8:141479269 [GRCh38]
Chr8:142489369 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1327G>A (p.Glu443Lys) single nucleotide variant not specified [RCV004504340] Chr8:141477814 [GRCh38]
Chr8:142487914 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1952G>A (p.Arg651His) single nucleotide variant not specified [RCV004496900] Chr8:141471109 [GRCh38]
Chr8:142481209 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.2293G>A (p.Val765Ile) single nucleotide variant not specified [RCV004496924] Chr8:141467428 [GRCh38]
Chr8:142477528 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.1171C>T (p.Arg391Trp) single nucleotide variant not specified [RCV004504319] Chr8:141478690 [GRCh38]
Chr8:142488790 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2569C>T (p.Pro857Ser) single nucleotide variant not specified [RCV004496955] Chr8:141449658 [GRCh38]
Chr8:142459758 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3821T>A (p.Met1274Lys) single nucleotide variant not specified [RCV004497121] Chr8:141434586 [GRCh38]
Chr8:142444686 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1235G>C (p.Ser412Thr) single nucleotide variant not specified [RCV004504330] Chr8:141478626 [GRCh38]
Chr8:142488726 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1390G>A (p.Asp464Asn) single nucleotide variant not specified [RCV004504354] Chr8:141477458 [GRCh38]
Chr8:142487558 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1403C>T (p.Thr468Met) single nucleotide variant not specified [RCV004504359] Chr8:141477445 [GRCh38]
Chr8:142487545 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.1412G>A (p.Arg471His) single nucleotide variant not specified [RCV004504368] Chr8:141477436 [GRCh38]
Chr8:142487536 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2275G>A (p.Glu759Lys) single nucleotide variant not specified [RCV004496918] Chr8:141467446 [GRCh38]
Chr8:142477546 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.228G>T (p.Glu76Asp) single nucleotide variant not specified [RCV004496923] Chr8:141496354 [GRCh38]
Chr8:142506454 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.2413C>A (p.Leu805Met) single nucleotide variant not specified [RCV004496931] Chr8:141466473 [GRCh38]
Chr8:142476573 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3076A>G (p.Lys1026Glu) single nucleotide variant not specified [RCV004497002] Chr8:141441145 [GRCh38]
Chr8:142451245 [GRCh37]
Chr8:8q24.3
likely benign
NM_207414.3(MROH5):c.3263G>T (p.Gly1088Val) single nucleotide variant not specified [RCV004497033] Chr8:141436822 [GRCh38]
Chr8:142446922 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3316G>C (p.Asp1106His) single nucleotide variant not specified [RCV004497053] Chr8:141436769 [GRCh38]
Chr8:142446869 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3383G>A (p.Arg1128His) single nucleotide variant not specified [RCV004497071] Chr8:141436702 [GRCh38]
Chr8:142446802 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3655C>T (p.Arg1219Cys) single nucleotide variant not specified [RCV004497104] Chr8:141435150 [GRCh38]
Chr8:142445250 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.3896G>A (p.Arg1299Gln) single nucleotide variant not specified [RCV004497138] Chr8:141434019 [GRCh38]
Chr8:142444119 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.3(MROH5):c.673G>A (p.Val225Met) single nucleotide variant not specified [RCV004497175] Chr8:141490141 [GRCh38]
Chr8:142500241 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.2770C>A single nucleotide variant not specified [RCV004643585] Chr8:141447956 [GRCh38]
Chr8:142458056 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.3035C>G single nucleotide variant not specified [RCV004643588] Chr8:141441186 [GRCh38]
Chr8:142451286 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.3328C>T single nucleotide variant not specified [RCV004643592] Chr8:141436757 [GRCh38]
Chr8:142446857 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.201C>G single nucleotide variant not specified [RCV004643593] Chr8:141496381 [GRCh38]
Chr8:142506481 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.1304G>T single nucleotide variant not specified [RCV004643595] Chr8:141477837 [GRCh38]
Chr8:142487937 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.3310G>A single nucleotide variant not specified [RCV004629138] Chr8:141436775 [GRCh38]
Chr8:142446875 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.515T>C single nucleotide variant not specified [RCV004643587] Chr8:141494831 [GRCh38]
Chr8:142504931 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.2087G>C single nucleotide variant not specified [RCV004643589] Chr8:141470682 [GRCh38]
Chr8:142480782 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.3251C>A single nucleotide variant not specified [RCV004631618] Chr8:141436834 [GRCh38]
Chr8:142446934 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.2672G>A single nucleotide variant not specified [RCV004643582] Chr8:141448054 [GRCh38]
Chr8:142458154 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.770C>T single nucleotide variant not specified [RCV004643584] Chr8:141480429 [GRCh38]
Chr8:142490529 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.2902G>C single nucleotide variant not specified [RCV004643594] Chr8:141441697 [GRCh38]
Chr8:142451797 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.3508G>A single nucleotide variant not specified [RCV004643586] Chr8:141435960 [GRCh38]
Chr8:142446060 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.3292G>A single nucleotide variant not specified [RCV004643596] Chr8:141436793 [GRCh38]
Chr8:142446893 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.2420G>A single nucleotide variant not specified [RCV004643581] Chr8:141466466 [GRCh38]
Chr8:142476566 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.2921C>A single nucleotide variant not specified [RCV004643590] Chr8:141441678 [GRCh38]
Chr8:142451778 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.1610G>C single nucleotide variant not specified [RCV004629136] Chr8:141475983 [GRCh38]
Chr8:142486083 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_207414.2(MROH5):c.407A>T single nucleotide variant not specified [RCV004629137] Chr8:141495339 [GRCh38]
Chr8:142505439 [GRCh37]
Chr8:8q24.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4452
Count of miRNA genes:980
Interacting mature miRNAs:1201
Transcripts:ENST00000430863, ENST00000521053, ENST00000521161, ENST00000523857
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597028356GWAS1124430_Hresponse to antidepressant QTL GWAS1124430 (human)0.000003response to antidepressant8141448932141448933Human
597075284GWAS1171358_Hendometriosis QTL GWAS1171358 (human)0.000002endometriosis8141447953141447954Human
597140660GWAS1236734_Htrait in response to apixaban QTL GWAS1236734 (human)8e-09trait in response to apixaban8141493697141493698Human
597105426GWAS1201500_Hcytokine measurement QTL GWAS1201500 (human)0.000006cytokine measurementblood cytokine measurement (CMO:0001924)8141442125141442126Human
406915878GWAS564854_Hcoronary artery calcification QTL GWAS564854 (human)0.000008coronary artery calcification8141456721141456722Human
597135726GWAS1231800_Htrait in response to apixaban QTL GWAS1231800 (human)3e-08trait in response to apixaban8141493697141493698Human
597100605GWAS1196679_Hprotein measurement QTL GWAS1196679 (human)5e-10protein measurement8141494338141494339Human
597140651GWAS1236725_Htrait in response to apixaban QTL GWAS1236725 (human)5e-09trait in response to apixaban8141493697141493698Human
597208999GWAS1305073_Hprotein measurement QTL GWAS1305073 (human)5e-09protein measurement8141494338141494339Human

Markers in Region
RH79822  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera8138,608,685 - 138,608,978RGD
Cytogenetic Map8q24.3UniSTS
HuRef8137,759,637 - 137,759,930UniSTS
SHGC-148446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,452,680 - 142,452,971UniSTSGRCh37
Build 368142,521,862 - 142,522,153RGDNCBI36
Cytogenetic Map8q24.3UniSTS
HuRef8137,769,961 - 137,770,252UniSTS
TNG Radiation Hybrid Map870611.0UniSTS
SHGC-149588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378142,443,604 - 142,443,931UniSTSGRCh37
Build 368142,512,786 - 142,513,113RGDNCBI36
Celera8138,610,028 - 138,610,355RGD
Cytogenetic Map8q24.3UniSTS
HuRef8137,760,980 - 137,761,307UniSTS
TNG Radiation Hybrid Map870604.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1124 2063 2564 2157 3733 1225 1604 296 737 176 1840 5122 4957 3 2909 541 1485 1186 123

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_207414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_160399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide ABBA01013690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB063153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB070296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB072034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN831584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC006996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC044709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000430863   ⟹   ENSP00000431031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8141,433,832 - 141,507,230 (-)Ensembl
Ensembl Acc Id: ENST00000521053   ⟹   ENSP00000429433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8141,433,829 - 141,507,230 (-)Ensembl
Ensembl Acc Id: ENST00000521161   ⟹   ENSP00000429440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8141,494,911 - 141,496,759 (-)Ensembl
Ensembl Acc Id: ENST00000523857   ⟹   ENSP00000427945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8141,433,829 - 141,507,230 (-)Ensembl
Ensembl Acc Id: ENST00000621837   ⟹   ENSP00000481783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8141,433,829 - 141,507,230 (-)Ensembl
RefSeq Acc Id: NR_102363
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,433,825 - 141,507,229 (-)NCBI
GRCh378142,443,929 - 142,517,330 (-)NCBI
HuRef8137,761,305 - 137,795,358 (-)NCBI
HuRef8137,798,003 - 137,836,354 (-)NCBI
CHM1_18142,484,157 - 142,557,292 (-)NCBI
Sequence:
RefSeq Acc Id: NR_102364
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,433,825 - 141,507,229 (-)NCBI
HuRef8137,798,003 - 137,836,354 (-)NCBI
HuRef8137,761,305 - 137,795,358 (-)NCBI
CHM1_18142,484,157 - 142,557,292 (-)NCBI
Sequence:
RefSeq Acc Id: NR_160399
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388141,433,825 - 141,507,229 (-)NCBI
T2T-CHM13v2.08142,561,183 - 142,635,781 (-)NCBI
Sequence:
Ensembl Acc Id: ENSP00000481783   ⟸   ENST00000621837
Ensembl Acc Id: ENSP00000429440   ⟸   ENST00000521161
Ensembl Acc Id: ENSP00000429433   ⟸   ENST00000521053
Ensembl Acc Id: ENSP00000427945   ⟸   ENST00000523857
Ensembl Acc Id: ENSP00000431031   ⟸   ENST00000430863

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZUA9-F1-model_v2 AlphaFold Q6ZUA9 1-1318 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:42976 AgrOrtholog
COSMIC MROH5 COSMIC
Ensembl Genes ENSG00000226807 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
  ENSG00000291473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000430863 ENTREZGENE
  ENST00000521053 ENTREZGENE
  ENST00000521053.5 UniProtKB/TrEMBL
  ENST00000523857 ENTREZGENE
  ENST00000523857.5 UniProtKB/TrEMBL
  ENST00000707624.1 UniProtKB/TrEMBL
  ENST00000707625.1 UniProtKB/TrEMBL
  ENST00000707626.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000226807 GTEx
  ENSG00000291473 GTEx
HGNC ID HGNC:42976 ENTREZGENE
Human Proteome Map MROH5 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Maestro_heat-like_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Maestro_HEAT_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 389690 ENTREZGENE
PANTHER MAESTRO HEAT-LIKE REPEAT FAMILY MEMBER 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Maestro_HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166049097 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RFU7_HUMAN UniProtKB/TrEMBL
  MROH5_HUMAN UniProtKB/Swiss-Prot
  Q6ZMW9_HUMAN UniProtKB/TrEMBL
  Q6ZUA9 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-15 MROH5  maestro heat like repeat family member 5 (gene/pseudogene)    maestro heat like repeat family member 5  Symbol and/or name change 5135510 APPROVED
2016-01-26 MROH5  maestro heat like repeat family member 5    maestro heat-like repeat family member 5  Symbol and/or name change 5135510 APPROVED
2013-01-02 MROH5  maestro heat-like repeat family member 5  FLJ43860  FLJ43860 protein  Symbol and/or name change 5135510 APPROVED