MARCHF6 (membrane associated ring-CH-type finger 6) - Rat Genome Database

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Gene: MARCHF6 (membrane associated ring-CH-type finger 6) Homo sapiens
Analyze
Symbol: MARCHF6
Name: membrane associated ring-CH-type finger 6
RGD ID: 1343716
HGNC Page HGNC:30550
Description: Enables ubiquitin conjugating enzyme binding activity; ubiquitin protein ligase activity; and ubiquitin-specific protease binding activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein K48-linked ubiquitination. Located in endoplasmic reticulum membrane. Implicated in familial adult myoclonic epilepsy 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DOA10; doa10 homolog; E3 ubiquitin-protein ligase MARCH6; E3 ubiquitin-protein ligase MARCHF6; FAME3; FCMTE3; KIAA0597; MARCH-VI; MARCH6; membrane associated ring finger 6; membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase; membrane-associated RING finger protein 6; membrane-associated RING-CH finger protein 6; membrane-associated RING-CH protein VI; protein TEB-4; RING finger protein 176; RING-type E3 ubiquitin transferase MARCH6; RING-type E3 ubiquitin transferase MARCHF6; RNF176; TEB4
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
GRCh38510,353,695 - 10,440,388 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl510,353,695 - 10,440,388 (+)EnsemblGRCh38hg38GRCh38
GRCh37510,353,807 - 10,440,500 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36510,406,828 - 10,488,491 (+)NCBINCBI36Build 36hg18NCBI36
Build 34510,406,827 - 10,488,491NCBI
Celera510,391,947 - 10,473,622 (+)NCBICelera
Cytogenetic Map5p15.2NCBI
HuRef510,338,021 - 10,424,590 (+)NCBIHuRef
CHM1_1510,353,128 - 10,440,366 (+)NCBICHM1_1
T2T-CHM13v2.0510,292,877 - 10,379,523 (+)NCBIT2T-CHM13v2.0
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
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:9049630   PMID:9628581   PMID:11641273   PMID:14702039   PMID:14722266   PMID:15489334   PMID:15673284   PMID:16344560   PMID:16373356   PMID:17848550   PMID:18798335   PMID:19103148  
PMID:19322201   PMID:19651899   PMID:19946888   PMID:21679772   PMID:21873635   PMID:22446040   PMID:24449766   PMID:24811749   PMID:24840124   PMID:25074266   PMID:25088257   PMID:25766235  
PMID:26186194   PMID:26472760   PMID:26496610   PMID:26514267   PMID:26527619   PMID:27068744   PMID:28298427   PMID:28514442   PMID:29519897   PMID:30202070   PMID:30425097   PMID:30545937  
PMID:30658189   PMID:31422115   PMID:31664039   PMID:31904814   PMID:32170014   PMID:32296183   PMID:32614325   PMID:32755570   PMID:33049405   PMID:33961781   PMID:34273954   PMID:34512155  
PMID:35337019   PMID:35696571   PMID:35941365   PMID:36610398   PMID:38195637  


Genomics

Comparative Map Data
MARCHF6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38510,353,695 - 10,440,388 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl510,353,695 - 10,440,388 (+)EnsemblGRCh38hg38GRCh38
GRCh37510,353,807 - 10,440,500 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36510,406,828 - 10,488,491 (+)NCBINCBI36Build 36hg18NCBI36
Build 34510,406,827 - 10,488,491NCBI
Celera510,391,947 - 10,473,622 (+)NCBICelera
Cytogenetic Map5p15.2NCBI
HuRef510,338,021 - 10,424,590 (+)NCBIHuRef
CHM1_1510,353,128 - 10,440,366 (+)NCBICHM1_1
T2T-CHM13v2.0510,292,877 - 10,379,523 (+)NCBIT2T-CHM13v2.0
Marchf6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391531,456,045 - 31,531,172 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1531,456,037 - 31,531,199 (-)EnsemblGRCm39 Ensembl
GRCm381531,455,899 - 31,531,082 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1531,455,891 - 31,531,053 (-)EnsemblGRCm38mm10GRCm38
MGSCv371531,385,654 - 31,460,792 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361531,400,488 - 31,475,626 (-)NCBIMGSCv36mm8
Celera1532,146,454 - 32,221,649 (-)NCBICelera
Cytogenetic Map15B2NCBI
cM Map1512.95NCBI
Marchf6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8284,166,570 - 84,243,817 (-)NCBIGRCr8
mRatBN7.2282,455,686 - 82,532,917 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl282,455,689 - 82,532,910 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx289,495,758 - 89,575,122 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0287,617,336 - 87,696,699 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0282,673,618 - 82,752,982 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0284,533,546 - 84,608,743 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl284,536,669 - 84,608,712 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02104,206,630 - 104,281,918 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4283,544,604 - 83,622,254 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera277,979,979 - 78,056,887 (-)NCBICelera
Cytogenetic Map2q23NCBI
Marchf6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955426228,788 - 278,888 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955426228,807 - 278,888 (+)NCBIChiLan1.0ChiLan1.0
MARCHF6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2410,594,867 - 10,681,923 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan158,748,938 - 8,834,711 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0510,666,978 - 10,753,050 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1510,524,958 - 10,608,046 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl510,524,958 - 10,608,046 (+)Ensemblpanpan1.1panPan2
MARCHF6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1343,880,988 - 3,947,127 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl343,884,487 - 3,943,035 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha348,383,624 - 8,466,476 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0343,785,457 - 3,868,858 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl343,786,417 - 3,869,038 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1343,835,287 - 3,918,110 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0343,813,874 - 3,897,483 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0344,044,972 - 4,127,896 (-)NCBIUU_Cfam_GSD_1.0
Marchf6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213236,892,183 - 236,966,037 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366432,455,328 - 2,507,225 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366432,455,496 - 2,507,185 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MARCHF6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1672,044,093 - 72,127,863 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11672,043,294 - 72,127,869 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21678,141,955 - 78,228,049 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MARCHF6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.149,891,847 - 9,970,617 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl49,891,580 - 9,970,300 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606418,574,413 - 18,654,209 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Marchf6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247517,715,007 - 7,780,460 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247517,715,065 - 7,781,320 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MARCHF6
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.31-15.2(chr5:9843412-11298705)x3 copy number gain See cases [RCV000050789] Chr5:9843412..11298705 [GRCh38]
Chr5:9843524..11298817 [GRCh37]
Chr5:9896524..11351817 [NCBI36]
Chr5:5p15.31-15.2		 uncertain significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12004091)x1 copy number loss See cases [RCV000053399] Chr5:22149..12004091 [GRCh38]
Chr5:22149..12004203 [GRCh37]
Chr5:75149..12057203 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 copy number loss See cases [RCV000053446] Chr5:2180761..17602433 [GRCh38]
Chr5:2180875..17602542 [GRCh37]
Chr5:2233875..17645646 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
NM_005885.4(MARCHF6):c.1087C>T (p.Arg363Cys) single nucleotide variant Inborn genetic diseases [RCV003352058] Chr5:10402417 [GRCh38]
Chr5:10402529 [GRCh37]
Chr5:10455529 [NCBI36]
Chr5:5p15.2		 uncertain significance|not provided
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-12819999)x1 copy number loss See cases [RCV000133796] Chr5:22149..12819999 [GRCh38]
Chr5:22149..12820111 [GRCh37]
Chr5:75149..12873111 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3 copy number gain See cases [RCV000136902] Chr5:10212880..16770474 [GRCh38]
Chr5:10212992..16770583 [GRCh37]
Chr5:10265992..16823583 [NCBI36]
Chr5:5p15.2-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic|uncertain significance
GRCh38/hg38 5p15.31-15.2(chr5:8824306-14246099)x1 copy number loss See cases [RCV000137141] Chr5:8824306..14246099 [GRCh38]
Chr5:8824418..14246208 [GRCh37]
Chr5:8877418..14299208 [NCBI36]
Chr5:5p15.31-15.2		 pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11429258)x1 copy number loss See cases [RCV000137884] Chr5:22149..11429258 [GRCh38]
Chr5:22149..11429370 [GRCh37]
Chr5:75149..11482370 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:22149-11530391)x1 copy number loss See cases [RCV000137915] Chr5:22149..11530391 [GRCh38]
Chr5:22149..11530503 [GRCh37]
Chr5:75149..11583503 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1		 likely benign
GRCh38/hg38 5p15.31-15.2(chr5:7670933-13623997)x1 copy number loss See cases [RCV000139904] Chr5:7670933..13623997 [GRCh38]
Chr5:7671046..13624106 [GRCh37]
Chr5:7724046..13677106 [NCBI36]
Chr5:5p15.31-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 copy number loss See cases [RCV000141795] Chr5:4932707..18465361 [GRCh38]
Chr5:4932820..18465470 [GRCh37]
Chr5:4985820..18501227 [NCBI36]
Chr5:5p15.32-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.2(chr5:113461-14684362)x1 copy number loss See cases [RCV000142183] Chr5:113461..14684362 [GRCh38]
Chr5:113576..14684471 [GRCh37]
Chr5:166576..14737471 [NCBI36]
Chr5:5p15.33-15.2		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.2(chr5:10364492-11324670)x3 copy number gain See cases [RCV000240334] Chr5:10364492..11324670 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:22149-13362684)x1 copy number loss See cases [RCV000240389] Chr5:22149..13362684 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14238330)x3 copy number gain See cases [RCV000447632] Chr5:113576..14238330 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 copy number loss See cases [RCV000445859] Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1 copy number loss See cases [RCV000448421] Chr5:9120813..24274030 [GRCh37]
Chr5:5p15.31-14.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.31-15.2(chr5:9798793-11208440)x3 copy number gain See cases [RCV000511792] Chr5:9798793..11208440 [GRCh37]
Chr5:5p15.31-15.2		 likely benign
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10729838)x1 copy number loss See cases [RCV000510912] Chr5:113576..10729838 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
Single allele duplication not provided [RCV000677980] Chr5:10364492..11324670 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1 copy number loss not provided [RCV000682520] Chr5:5830053..19490899 [GRCh37]
Chr5:5p15.32-14.3		 pathogenic
GRCh37/hg19 5p15.32-15.2(chr5:5884444-14122539)x3 copy number gain not provided [RCV000682521] Chr5:5884444..14122539 [GRCh37]
Chr5:5p15.32-15.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_005885.4(MARCHF6):c.19+2427TTTAT[641] microsatellite Epilepsy, familial adult myoclonic, 3 [RCV000984024] Chr5:10356343..10356344 [GRCh38]
Chr5:10356455..10356456 [GRCh37]
Chr5:5p15.2		 pathogenic
NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)] microsatellite Epilepsy, familial adult myoclonic, 3 [RCV000855778] Chr5:10356348..10356407 [GRCh38]
Chr5:5p15.2		 pathogenic
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.2(chr5:10186394-10983657)x3 copy number gain not provided [RCV000847635] Chr5:10186394..10983657 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1 copy number loss not provided [RCV001005644] Chr5:113576..11767720 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1 copy number loss not provided [RCV002472646] Chr5:8081005..22210970 [GRCh37]
Chr5:5p15.31-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 copy number loss not provided [RCV002473919] Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1 copy number loss not provided [RCV001005649] Chr5:1322680..10762544 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.2(chr5:10140764-10671308)x3 copy number gain not provided [RCV001258841] Chr5:10140764..10671308 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.2(chr5:10382918-10611579)x3 copy number gain not provided [RCV001258838] Chr5:10382918..10611579 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_005885.4(MARCHF6):c.2516C>T (p.Ala839Val) single nucleotide variant not provided [RCV001354631] Chr5:10429902 [GRCh38]
Chr5:10430014 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 copy number loss not provided [RCV001827855] Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_005885.4(MARCHF6):c.1676C>T (p.Thr559Ile) single nucleotide variant Inborn genetic diseases [RCV003252875] Chr5:10410261 [GRCh38]
Chr5:10410373 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_005885.4(MARCHF6):c.914-8C>G single nucleotide variant Epilepsy, familial adult myoclonic, 3 [RCV002266732] Chr5:10400776 [GRCh38]
Chr5:10400888 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027) copy number loss 5p partial monosomy syndrome [RCV002280774] Chr5:113576..12601027 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_005885.4(MARCHF6):c.394G>A (p.Asp132Asn) single nucleotide variant Inborn genetic diseases [RCV003257328] Chr5:10387053 [GRCh38]
Chr5:10387165 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_005885.4(MARCHF6):c.2141C>T (p.Ser714Phe) single nucleotide variant Inborn genetic diseases [RCV003204028] Chr5:10415662 [GRCh38]
Chr5:10415774 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_005885.4(MARCHF6):c.2168T>C (p.Val723Ala) single nucleotide variant Inborn genetic diseases [RCV003304138] Chr5:10417289 [GRCh38]
Chr5:10417401 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3 copy number gain Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [RCV003159551] Chr5:10165922..18156739 [GRCh37]
Chr5:5p15.2-15.1		 pathogenic|likely pathogenic
NM_005885.4(MARCHF6):c.2500T>G (p.Leu834Val) single nucleotide variant Inborn genetic diseases [RCV003202624] Chr5:10426516 [GRCh38]
Chr5:10426628 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1 copy number loss Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [RCV003327718] Chr5:9999..14320000 [GRCh38]
Chr5:5p15.33-15.2		 pathogenic
NM_005885.4(MARCHF6):c.428G>C (p.Cys143Ser) single nucleotide variant Inborn genetic diseases [RCV003364856] Chr5:10390352 [GRCh38]
Chr5:10390464 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1 copy number loss not provided [RCV003485448] Chr5:113577..11095056 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1 copy number loss not provided [RCV003485455] Chr5:9002950..15174932 [GRCh37]
Chr5:5p15.31-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 copy number loss not provided [RCV003485453] Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 copy number loss not specified [RCV003986593] Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 copy number loss not specified [RCV003986598] Chr5:3272715..17317051 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1 copy number loss not specified [RCV003986599] Chr5:113576..10835556 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 copy number loss not specified [RCV003986589] Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 copy number loss not specified [RCV003986556] Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3		 pathogenic
NM_005885.4(MARCHF6):c.2084T>C (p.Met695Thr) single nucleotide variant MARCHF6-related condition [RCV003956812] Chr5:10415605 [GRCh38]
Chr5:10415717 [GRCh37]
Chr5:5p15.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3612
Count of miRNA genes:1211
Interacting mature miRNAs:1499
Transcripts:ENST00000274140, ENST00000449913, ENST00000502795, ENST00000503788, ENST00000505253, ENST00000506131, ENST00000507863, ENST00000510792, ENST00000510872, ENST00000511802, ENST00000512449, ENST00000514312, ENST00000514961, ENST00000606497
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.

Markers in Region
WI-17007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,434,251 - 10,434,400UniSTSGRCh37
Build 36510,487,251 - 10,487,400RGDNCBI36
Celera510,472,382 - 10,472,531RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,418,357 - 10,418,506UniSTS
GeneMap99-GB4 RH Map538.02UniSTS
Whitehead-RH Map536.0UniSTS
NCBI RH Map553.1UniSTS
D5S1646E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,435,287 - 10,435,467UniSTSGRCh37
Build 36510,488,287 - 10,488,467RGDNCBI36
Celera510,473,418 - 10,473,598RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,419,393 - 10,419,573UniSTS
GeneMap99-GB4 RH Map539.72UniSTS
NCBI RH Map553.1UniSTS
WIAF-1507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,440,304 - 10,440,434UniSTSGRCh37
Build 36510,493,304 - 10,493,434RGDNCBI36
Celera510,478,435 - 10,478,565RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,424,394 - 10,424,524UniSTS
GeneMap99-GB4 RH Map538.19UniSTS
NCBI RH Map553.1UniSTS
D5S438E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,437,643 - 10,437,833UniSTSGRCh37
Build 36510,490,643 - 10,490,833RGDNCBI36
Celera510,475,774 - 10,475,964RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,421,733 - 10,421,923UniSTS
TNG Radiation Hybrid Map54548.0UniSTS
Stanford-G3 RH Map5446.0UniSTS
GeneMap99-G3 RH Map5446.0UniSTS
RH92217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,352,908 - 10,353,029UniSTSGRCh37
Build 36510,405,908 - 10,406,029RGDNCBI36
Celera510,391,027 - 10,391,148RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,337,178 - 10,337,299UniSTS
GeneMap99-GB4 RH Map538.19UniSTS
RH27917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,437,757 - 10,437,855UniSTSGRCh37
Build 36510,490,757 - 10,490,855RGDNCBI36
Celera510,475,888 - 10,475,986RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,421,847 - 10,421,945UniSTS
SHGC-79719  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,422,033 - 10,422,146UniSTSGRCh37
Build 36510,475,033 - 10,475,146RGDNCBI36
Celera510,460,165 - 10,460,278RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,406,142 - 10,406,255UniSTS
TNG Radiation Hybrid Map54576.0UniSTS
G62792  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,370,770 - 10,371,096UniSTSGRCh37
Build 36510,423,770 - 10,424,096RGDNCBI36
Celera510,408,901 - 10,409,227RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,354,875 - 10,355,201UniSTS
TNG Radiation Hybrid Map54521.0UniSTS
SHGC-145385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,413,343 - 10,413,614UniSTSGRCh37
Build 36510,466,343 - 10,466,614RGDNCBI36
Celera510,451,475 - 10,451,746RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,397,452 - 10,397,723UniSTS
TNG Radiation Hybrid Map54565.0UniSTS
RH12605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,437,687 - 10,437,850UniSTSGRCh37
Build 36510,490,687 - 10,490,850RGDNCBI36
Celera510,475,818 - 10,475,981RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,421,777 - 10,421,940UniSTS
GeneMap99-GB4 RH Map539.77UniSTS
NCBI RH Map553.1UniSTS
RH68720  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,364,394 - 10,364,513UniSTSGRCh37
Build 36510,417,394 - 10,417,513RGDNCBI36
Celera510,402,523 - 10,402,642RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,348,497 - 10,348,616UniSTS
GeneMap99-GB4 RH Map539.77UniSTS
NCBI RH Map553.1UniSTS
WI-22102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,433,772 - 10,434,060UniSTSGRCh37
Build 36510,486,772 - 10,487,060RGDNCBI36
Celera510,471,903 - 10,472,191RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,417,878 - 10,418,166UniSTS
GeneMap99-GB4 RH Map539.72UniSTS
Whitehead-RH Map541.5UniSTS
NCBI RH Map553.1UniSTS
SGC35190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,437,013 - 10,437,141UniSTSGRCh37
Build 36510,490,013 - 10,490,141RGDNCBI36
Celera510,475,144 - 10,475,272RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,421,103 - 10,421,231UniSTS
GeneMap99-GB4 RH Map538.02UniSTS
Whitehead-RH Map536.0UniSTS
NCBI RH Map553.1UniSTS
RH35927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,436,853 - 10,436,972UniSTSGRCh37
Build 36510,489,853 - 10,489,972RGDNCBI36
Celera510,474,984 - 10,475,103RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,420,943 - 10,421,062UniSTS
GeneMap99-GB4 RH Map539.72UniSTS
NCBI RH Map553.1UniSTS
D5S1645E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,437,799 - 10,437,930UniSTSGRCh37
Build 36510,490,799 - 10,490,930RGDNCBI36
Celera510,475,930 - 10,476,061RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,421,889 - 10,422,020UniSTS
GeneMap99-GB4 RH Map539.72UniSTS
NCBI RH Map553.1UniSTS
D5S1598E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,433,806 - 10,433,962UniSTSGRCh37
Build 36510,486,806 - 10,486,962RGDNCBI36
Celera510,471,937 - 10,472,093RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,417,912 - 10,418,068UniSTS
GeneMap99-GB4 RH Map541.84UniSTS
NCBI RH Map553.1UniSTS
D5S1654E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,440,390 - 10,440,469UniSTSGRCh37
Build 36510,493,390 - 10,493,469RGDNCBI36
Celera510,478,521 - 10,478,600RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,424,480 - 10,424,559UniSTS
GeneMap99-GB4 RH Map541.03UniSTS
NCBI RH Map553.1UniSTS
SHGC-37071  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,376,844 - 10,376,970UniSTSGRCh37
Build 36510,429,844 - 10,429,970RGDNCBI36
Celera510,414,976 - 10,415,102RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,360,950 - 10,361,076UniSTS
Stanford-G3 RH Map5384.0UniSTS
GeneMap99-G3 RH Map5384.0UniSTS
G19766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,437,713 - 10,437,890UniSTSGRCh37
Build 36510,490,713 - 10,490,890RGDNCBI36
Celera510,475,844 - 10,476,021RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,421,803 - 10,421,980UniSTS
A001X45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,437,713 - 10,437,890UniSTSGRCh37
Build 36510,490,713 - 10,490,890RGDNCBI36
Celera510,475,844 - 10,476,021RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,421,803 - 10,421,980UniSTS
GeneMap99-GB4 RH Map541.03UniSTS
NCBI RH Map553.1UniSTS
WI-11573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37510,435,269 - 10,435,368UniSTSGRCh37
Build 36510,488,269 - 10,488,368RGDNCBI36
Celera510,473,400 - 10,473,499RGD
Cytogenetic Map5p15.2UniSTS
HuRef510,419,375 - 10,419,474UniSTS
GeneMap99-GB4 RH Map538.19UniSTS
Whitehead-RH Map536.2UniSTS
NCBI RH Map553.1UniSTS


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 2432 2531 1655 560 1684 401 4354 2035 3430 399 1457 1610 175 1 1204 2785 6 2
Low 7 460 71 64 267 64 3 162 304 20 3 3 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001270660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_925576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_925577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF009301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF056433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC142694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX116291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB072938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U52827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274140   ⟹   ENSP00000274140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,353,695 - 10,440,388 (+)Ensembl
RefSeq Acc Id: ENST00000449913   ⟹   ENSP00000414643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,353,703 - 10,433,961 (+)Ensembl
RefSeq Acc Id: ENST00000502795   ⟹   ENSP00000426000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,353,711 - 10,391,574 (+)Ensembl
RefSeq Acc Id: ENST00000503788   ⟹   ENSP00000425930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,353,716 - 10,433,957 (+)Ensembl
RefSeq Acc Id: ENST00000505253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,413,274 - 10,422,036 (+)Ensembl
RefSeq Acc Id: ENST00000506131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,386,925 - 10,390,500 (+)Ensembl
RefSeq Acc Id: ENST00000507863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,354,639 - 10,390,492 (+)Ensembl
RefSeq Acc Id: ENST00000510792   ⟹   ENSP00000424512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,401,857 - 10,433,684 (+)Ensembl
RefSeq Acc Id: ENST00000510872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,353,968 - 10,390,491 (+)Ensembl
RefSeq Acc Id: ENST00000511802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,353,715 - 10,434,285 (+)Ensembl
RefSeq Acc Id: ENST00000512449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,410,153 - 10,423,835 (+)Ensembl
RefSeq Acc Id: ENST00000514312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,415,599 - 10,417,451 (+)Ensembl
RefSeq Acc Id: ENST00000514961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,400,933 - 10,402,451 (+)Ensembl
RefSeq Acc Id: ENST00000606497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,433,929 - 10,437,849 (+)Ensembl
RefSeq Acc Id: ENST00000640713   ⟹   ENSP00000491579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl510,353,899 - 10,390,372 (+)Ensembl
RefSeq Acc Id: NM_001270660   ⟹   NP_001257589
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,440,388 (+)NCBI
GRCh37510,353,751 - 10,440,500 (+)NCBI
HuRef510,338,021 - 10,424,590 (+)NCBI
CHM1_1510,353,128 - 10,440,366 (+)NCBI
T2T-CHM13v2.0510,292,877 - 10,379,523 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001270661   ⟹   NP_001257590
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,440,388 (+)NCBI
GRCh37510,353,751 - 10,440,500 (+)NCBI
HuRef510,338,021 - 10,424,590 (+)NCBI
CHM1_1510,353,128 - 10,440,366 (+)NCBI
T2T-CHM13v2.0510,292,877 - 10,379,523 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005885   ⟹   NP_005876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,440,388 (+)NCBI
GRCh37510,353,751 - 10,440,500 (+)NCBI
Build 36510,406,828 - 10,488,491 (+)NCBI Archive
Celera510,391,947 - 10,473,622 (+)RGD
HuRef510,338,021 - 10,424,590 (+)NCBI
CHM1_1510,353,128 - 10,440,366 (+)NCBI
T2T-CHM13v2.0510,292,877 - 10,379,523 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513932   ⟹   XP_011512234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,892 - 10,440,388 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513934   ⟹   XP_011512236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,419,627 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513936   ⟹   XP_011512238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,413,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008944   ⟹   XP_016864433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,404,940 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416611   ⟹   XP_047272567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,892 - 10,440,388 (+)NCBI
RefSeq Acc Id: XM_047416612   ⟹   XP_047272568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,430,022 (+)NCBI
RefSeq Acc Id: XM_047416613   ⟹   XP_047272569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,892 - 10,440,388 (+)NCBI
RefSeq Acc Id: XM_047416614   ⟹   XP_047272570
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,400,913 - 10,440,388 (+)NCBI
RefSeq Acc Id: XR_925577
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,695 - 10,419,627 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001257589 (Get FASTA)   NCBI Sequence Viewer  
  NP_001257590 (Get FASTA)   NCBI Sequence Viewer  
  NP_005876 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512234 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512236 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512238 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864433 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272567 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272568 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272569 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272570 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB66840 (Get FASTA)   NCBI Sequence Viewer  
  AAH46148 (Get FASTA)   NCBI Sequence Viewer  
  AAI36462 (Get FASTA)   NCBI Sequence Viewer  
  AAI36463 (Get FASTA)   NCBI Sequence Viewer  
  AAI42680 (Get FASTA)   NCBI Sequence Viewer  
  AAI42695 (Get FASTA)   NCBI Sequence Viewer  
  BAA25523 (Get FASTA)   NCBI Sequence Viewer  
  BAG37238 (Get FASTA)   NCBI Sequence Viewer  
  BAG50840 (Get FASTA)   NCBI Sequence Viewer  
  BAG59204 (Get FASTA)   NCBI Sequence Viewer  
  BAG61341 (Get FASTA)   NCBI Sequence Viewer  
  BAG61845 (Get FASTA)   NCBI Sequence Viewer  
  CAH05341 (Get FASTA)   NCBI Sequence Viewer  
  EAX08065 (Get FASTA)   NCBI Sequence Viewer  
  EAX08066 (Get FASTA)   NCBI Sequence Viewer  
  EAX08067 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000274140
  ENSP00000274140.4
  ENSP00000414643
  ENSP00000414643.2
  ENSP00000424512
  ENSP00000424512.1
  ENSP00000425930
  ENSP00000425930.1
  ENSP00000426000.1
GenBank Protein O60337 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_005876   ⟸   NM_005885
- Peptide Label: isoform 1
- UniProtKB: Q86X77 (UniProtKB/Swiss-Prot),   O60337 (UniProtKB/Swiss-Prot),   O14670 (UniProtKB/Swiss-Prot),   D3DTC8 (UniProtKB/Swiss-Prot),   B4DT33 (UniProtKB/Swiss-Prot),   B4DKJ2 (UniProtKB/Swiss-Prot),   A5PKZ4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257589   ⟸   NM_001270660
- Peptide Label: isoform 2
- UniProtKB: O60337 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257590   ⟸   NM_001270661
- Peptide Label: isoform 3
- UniProtKB: O60337 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512236   ⟸   XM_011513934
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011512238   ⟸   XM_011513936
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011512234   ⟸   XM_011513932
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016864433   ⟸   XM_017008944
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: ENSP00000426000   ⟸   ENST00000502795
RefSeq Acc Id: ENSP00000425930   ⟸   ENST00000503788
RefSeq Acc Id: ENSP00000491579   ⟸   ENST00000640713
RefSeq Acc Id: ENSP00000274140   ⟸   ENST00000274140
RefSeq Acc Id: ENSP00000424512   ⟸   ENST00000510792
RefSeq Acc Id: ENSP00000414643   ⟸   ENST00000449913
RefSeq Acc Id: XP_047272568   ⟸   XM_047416612
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047272567   ⟸   XM_047416611
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047272569   ⟸   XM_047416613
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047272570   ⟸   XM_047416614
- Peptide Label: isoform X7
- UniProtKB: B2RBJ1 (UniProtKB/TrEMBL)
Protein Domains
RING-CH-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60337-F1-model_v2 AlphaFold O60337 1-910 view protein structure

Promoters
RGD ID:6869246
Promoter ID:EPDNEW_H7788
Type:initiation region
Name:MARCH6_1
Description:membrane associated ring-CH-type finger 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7789  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,716 - 10,353,776EPDNEW
RGD ID:6869248
Promoter ID:EPDNEW_H7789
Type:initiation region
Name:MARCH6_2
Description:membrane associated ring-CH-type finger 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7788  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38510,353,892 - 10,353,952EPDNEW
RGD ID:6803346
Promoter ID:HG_KWN:49786
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005885,   UC003JEU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36510,406,366 - 10,406,866 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30550 AgrOrtholog
COSMIC MARCHF6 COSMIC
Ensembl Genes ENSG00000145495 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000274140 ENTREZGENE
  ENST00000274140.10 UniProtKB/Swiss-Prot
  ENST00000449913 ENTREZGENE
  ENST00000449913.6 UniProtKB/Swiss-Prot
  ENST00000502795.5 UniProtKB/TrEMBL
  ENST00000503788 ENTREZGENE
  ENST00000503788.5 UniProtKB/Swiss-Prot
  ENST00000510792 ENTREZGENE
  ENST00000510792.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145495 GTEx
HGNC ID HGNC:30550 ENTREZGENE
Human Proteome Map MARCHF6 Human Proteome Map
InterPro Znf_RING-CH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10299 UniProtKB/Swiss-Prot
NCBI Gene 10299 ENTREZGENE
OMIM 613297 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE MARCHF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSM4 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RINGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ZF_RING_CH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RINGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J206_HUMAN UniProtKB/TrEMBL
  A5PKZ4 ENTREZGENE
  B2RBJ1 ENTREZGENE, UniProtKB/TrEMBL
  B4DKJ2 ENTREZGENE
  B4DT33 ENTREZGENE
  D3DTC8 ENTREZGENE
  D6RHY7_HUMAN UniProtKB/TrEMBL
  MARH6_HUMAN UniProtKB/Swiss-Prot
  O14670 ENTREZGENE
  O60337 ENTREZGENE
  Q86X77 ENTREZGENE
UniProt Secondary A5PKZ4 UniProtKB/Swiss-Prot
  B4DKJ2 UniProtKB/Swiss-Prot
  B4DT33 UniProtKB/Swiss-Prot
  D3DTC8 UniProtKB/Swiss-Prot
  O14670 UniProtKB/Swiss-Prot
  Q86X77 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 MARCHF6  membrane associated ring-CH-type finger 6  MARCH6  membrane associated ring-CH-type finger 6  Symbol and/or name change 5135510 APPROVED
2015-12-01 MARCH6  membrane associated ring-CH-type finger 6  MARCH6  membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase  Symbol and/or name change 5135510 APPROVED
2012-03-01 MARCH6  membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase  MARCH6  membrane-associated ring finger (C3HC4) 6  Symbol and/or name change 5135510 APPROVED