MARCHF1 (membrane associated ring-CH-type finger 1) - Rat Genome Database

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Gene: MARCHF1 (membrane associated ring-CH-type finger 1) Homo sapiens
Analyze
Symbol: MARCHF1
Name: membrane associated ring-CH-type finger 1
RGD ID: 1354489
HGNC Page HGNC:26077
Description: Enables MHC protein binding activity and ubiquitin protein ligase activity. Involved in antigen processing and presentation of peptide antigen via MHC class II; immune response; and protein polyubiquitination. Located in several cellular components, including Golgi apparatus; endosome membrane; and lysosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp564M1682; E3 ubiquitin-protein ligase MARCH1; E3 ubiquitin-protein ligase MARCHF1; FLJ20668; MARCH-I; MARCH1; membrane associated ring finger 1; membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase; membrane-associated RING finger protein 1; membrane-associated RING-CH protein I; RING finger protein 171; RING-type E3 ubiquitin transferase MARCH1; RING-type E3 ubiquitin transferase MARCHF1; RNF171
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
GRCh384163,524,298 - 164,384,019 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4163,524,298 - 164,384,050 (-)EnsemblGRCh38hg38GRCh38
GRCh374164,445,450 - 165,305,171 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364164,668,499 - 164,754,226 (-)NCBINCBI36Build 36hg18NCBI36
Build 344164,806,653 - 164,892,381NCBI
Celera4161,777,720 - 162,636,895 (-)NCBICelera
Cytogenetic Map4q32.2-q32.3NCBI
HuRef4160,199,325 - 161,058,221 (-)NCBIHuRef
CHM1_14164,421,900 - 165,280,873 (-)NCBICHM1_1
T2T-CHM13v2.04166,872,170 - 167,731,735 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)
genetic disease  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:9847074   PMID:14702039   PMID:14722266   PMID:17540176   PMID:18305173   PMID:18389477   PMID:19117940   PMID:20379614   PMID:21490949   PMID:21757542   PMID:21873635   PMID:21896490  
PMID:22508929   PMID:23264739   PMID:23300075   PMID:23606747   PMID:24578125   PMID:27577745   PMID:27633480   PMID:28611215   PMID:29378848   PMID:29414787   PMID:30356278   PMID:30630952  
PMID:30793486   PMID:31056421   PMID:31819015   PMID:32606244   PMID:32877691   PMID:33085122   PMID:33961781   PMID:34385821   PMID:34603025   PMID:35045264   PMID:35122633   PMID:38299743  
PMID:38331309  


Genomics

Comparative Map Data
MARCHF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384163,524,298 - 164,384,019 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4163,524,298 - 164,384,050 (-)EnsemblGRCh38hg38GRCh38
GRCh374164,445,450 - 165,305,171 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364164,668,499 - 164,754,226 (-)NCBINCBI36Build 36hg18NCBI36
Build 344164,806,653 - 164,892,381NCBI
Celera4161,777,720 - 162,636,895 (-)NCBICelera
Cytogenetic Map4q32.2-q32.3NCBI
HuRef4160,199,325 - 161,058,221 (-)NCBIHuRef
CHM1_14164,421,900 - 165,280,873 (-)NCBICHM1_1
T2T-CHM13v2.04166,872,170 - 167,731,735 (-)NCBIT2T-CHM13v2.0
Marchf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39866,070,558 - 66,925,761 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl866,070,552 - 66,924,289 (+)EnsemblGRCm39 Ensembl
GRCm38865,618,009 - 66,472,841 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl865,617,900 - 66,471,637 (+)EnsemblGRCm38mm10GRCm38
MGSCv37868,141,939 - 68,995,536 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36868,547,514 - 69,399,416 (+)NCBIMGSCv36mm8
Celera868,174,462 - 69,027,711 (+)NCBICelera
Cytogenetic Map8B3.1NCBI
cM Map833.06NCBI
Marchf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81628,022,159 - 28,880,872 (-)NCBIGRCr8
mRatBN7.21623,255,551 - 24,114,290 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1623,258,799 - 24,114,277 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1626,618,960 - 27,482,348 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01630,053,672 - 30,917,036 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01625,992,293 - 26,875,346 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01624,998,709 - 25,856,327 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1625,001,666 - 25,192,675 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01624,882,375 - 25,407,999 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41624,971,361 - 25,496,590 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11624,971,358 - 25,055,466 (-)NCBI
Celera1623,375,326 - 23,888,905 (-)NCBICelera
Cytogenetic Map16p14-p13NCBI
Marchf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540341,060,246 - 41,484,734 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540341,187,039 - 41,484,734 (+)NCBIChiLan1.0ChiLan1.0
MARCHF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23161,340,439 - 162,192,916 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14161,702,902 - 162,551,136 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04155,791,599 - 156,639,456 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14167,579,850 - 168,692,736 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4167,583,874 - 168,153,648 (-)Ensemblpanpan1.1panPan2
MARCHF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11559,753,597 - 60,279,692 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1559,753,216 - 60,036,060 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1560,118,313 - 60,912,318 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01560,512,737 - 61,307,283 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1560,513,004 - 60,795,213 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11559,745,776 - 60,561,370 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01559,837,018 - 60,638,108 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01560,206,169 - 61,004,664 (-)NCBIUU_Cfam_GSD_1.0
Marchf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494316,472,621 - 17,186,316 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365551,610,268 - 2,097,985 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365551,810,896 - 2,097,870 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MARCHF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl852,375,514 - 52,951,033 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1852,375,510 - 52,951,031 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2855,502,841 - 55,523,454 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MARCHF1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17109,978,620 - 110,783,623 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7109,979,056 - 110,063,661 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603789,799,273 - 90,615,833 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Marchf1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475812,878,810 - 13,319,814 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475812,528,242 - 13,321,851 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MARCHF1
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3 copy number gain See cases [RCV000050649] Chr4:162013220..189975519 [GRCh38]
Chr4:162934372..190828225 [GRCh37]
Chr4:163153822..191133668 [NCBI36]
Chr4:4q32.2-35.2		 pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.2-32.3(chr4:161592038-165721577)x3 copy number gain See cases [RCV000051791] Chr4:161592038..165721577 [GRCh38]
Chr4:162513190..166642729 [GRCh37]
Chr4:162732640..166862179 [NCBI36]
Chr4:4q32.2-32.3		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q32.1-35.2(chr4:158568335-189975660)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053325]|See cases [RCV000053325] Chr4:158568335..189975660 [GRCh38]
Chr4:159489487..190828225 [GRCh37]
Chr4:159708937..191133809 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1 copy number loss See cases [RCV000053326] Chr4:162723818..172501433 [GRCh38]
Chr4:163644970..173422584 [GRCh37]
Chr4:163864420..173659159 [NCBI36]
Chr4:4q32.2-34.1		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:163651681-189975519)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053327]|See cases [RCV000053327] Chr4:163651681..189975519 [GRCh38]
Chr4:164572833..190828225 [GRCh37]
Chr4:164792283..191133668 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1 copy number loss See cases [RCV000053347] Chr4:164039530..189982708 [GRCh38]
Chr4:164960682..190828225 [GRCh37]
Chr4:165180132..191140857 [NCBI36]
Chr4:4q32.3-35.2		 pathogenic
GRCh38/hg38 4q32.3(chr4:163823391-164572460)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053642]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053642]|See cases [RCV000053642] Chr4:163823391..164572460 [GRCh38]
Chr4:164744543..165493612 [GRCh37]
Chr4:164963993..165713062 [NCBI36]
Chr4:4q32.3		 benign
NM_012403.1(ANP32C):c.616G>A (p.Asp206Asn) single nucleotide variant Malignant melanoma [RCV000066324] Chr4:164197096 [GRCh38]
Chr4:165118248 [GRCh37]
Chr4:165337698 [NCBI36]
Chr4:4q32.3		 not provided
NM_001166373.1(MARCH1):c.162+36324C>A single nucleotide variant Lung cancer [RCV000094276] Chr4:163664489 [GRCh38]
Chr4:164585641 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001166373.1(MARCH1):c.112-47435A>G single nucleotide variant Lung cancer [RCV000094277] Chr4:163748298 [GRCh38]
Chr4:164669450 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001166373.1(MARCH1):c.111+51338A>T single nucleotide variant Lung cancer [RCV000094279] Chr4:163802683 [GRCh38]
Chr4:164723835 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001166373.1(MARCH1):c.111+12083A>T single nucleotide variant Lung cancer [RCV000094280] Chr4:163841938 [GRCh38]
Chr4:164763090 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001166373.1(MARCH1):c.-39+95970G>T single nucleotide variant Lung cancer [RCV000094281] Chr4:164015618 [GRCh38]
Chr4:164936770 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001166373.1(MARCH1):c.-113-56489C>A single nucleotide variant Lung cancer [RCV000094282] Chr4:164168151 [GRCh38]
Chr4:165089303 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001166373.1(MARCH1):c.-113-94743G>C single nucleotide variant Lung cancer [RCV000094283] Chr4:164206405 [GRCh38]
Chr4:165127557 [GRCh37]
Chr4:4q32.3		 uncertain significance
GRCh37/hg19 4q32.2-32.3(chr4:164465746-164905719)x3 copy number gain See cases [RCV000234866] Chr4:164465746..164905719 [GRCh37]
Chr4:4q32.2-32.3		 uncertain significance
GRCh38/hg38 4q32.3(chr4:163908614-164509220)x3 copy number gain See cases [RCV000134878] Chr4:163908614..164509220 [GRCh38]
Chr4:164829766..165430372 [GRCh37]
Chr4:165049216..165649822 [NCBI36]
Chr4:4q32.3		 likely benign
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3 copy number gain See cases [RCV000136603] Chr4:158387928..166845726 [GRCh38]
Chr4:159309080..167766877 [GRCh37]
Chr4:159528530..168003452 [NCBI36]
Chr4:4q32.1-32.3		 pathogenic|uncertain significance
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3 copy number gain See cases [RCV000140982] Chr4:160757699..190091407 [GRCh38]
Chr4:161678851..191012562 [GRCh37]
Chr4:161898301..191246543 [NCBI36]
Chr4:4q32.1-35.2		 pathogenic
GRCh38/hg38 4q32.3(chr4:164306430-164542784)x3 copy number gain See cases [RCV000140989] Chr4:164306430..164542784 [GRCh38]
Chr4:165227582..165463936 [GRCh37]
Chr4:165447032..165683386 [NCBI36]
Chr4:4q32.3		 likely benign
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33		 pathogenic
GRCh38/hg38 4q32.2-32.3(chr4:161590861-165734658)x3 copy number gain See cases [RCV000143095] Chr4:161590861..165734658 [GRCh38]
Chr4:162512013..166655810 [GRCh37]
Chr4:162731463..166875260 [NCBI36]
Chr4:4q32.2-32.3		 uncertain significance
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1 copy number loss See cases [RCV000239855] Chr4:162344510..177103037 [GRCh37]
Chr4:4q32.2-34.2		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4q32.2(chr4:163973796-164476240)x3 copy number gain See cases [RCV000599333] Chr4:163973796..164476240 [GRCh37]
Chr4:4q32.2		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.2-32.3(chr4:163556728-164710746)x3 copy number gain See cases [RCV000510667] Chr4:163556728..164710746 [GRCh37]
Chr4:4q32.2-32.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3 copy number gain See cases [RCV000510745] Chr4:164801123..165481802 [GRCh37]
Chr4:4q32.3		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 copy number loss See cases [RCV000512340] Chr4:162205710..182329883 [GRCh37]
Chr4:4q32.2-34.3		 pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3 copy number gain not provided [RCV000682478] Chr4:159492464..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.3(chr4:164801123-165481802)x3 copy number gain not provided [RCV000682482] Chr4:164801123..165481802 [GRCh37]
Chr4:4q32.3		 likely benign
GRCh37/hg19 4q32.3(chr4:164813633-165043263)x1 copy number loss not provided [RCV000682483] Chr4:164813633..165043263 [GRCh37]
Chr4:4q32.3		 uncertain significance
Single allele deletion not provided [RCV000677975] Chr4:164428194..173480785 [GRCh37]
Chr4:4q32.2-34.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.3(chr4:164547230-164732179)x1 copy number loss not provided [RCV000744112] Chr4:164547230..164732179 [GRCh37]
Chr4:4q32.3		 benign
GRCh37/hg19 4q32.3(chr4:164639989-164820243)x1 copy number loss not provided [RCV000744113] Chr4:164639989..164820243 [GRCh37]
Chr4:4q32.3		 benign
GRCh37/hg19 4q32.3(chr4:164841877-164941060)x3 copy number gain not provided [RCV000744114] Chr4:164841877..164941060 [GRCh37]
Chr4:4q32.3		 benign
GRCh37/hg19 4q32.3(chr4:165037540-165040824)x1 copy number loss not provided [RCV000744115] Chr4:165037540..165040824 [GRCh37]
Chr4:4q32.3		 benign
GRCh37/hg19 4q32.3(chr4:165037553-165317260)x3 copy number gain not provided [RCV000744116] Chr4:165037553..165317260 [GRCh37]
Chr4:4q32.3		 benign
GRCh37/hg19 4q32.3(chr4:165052223-165314229)x3 copy number gain not provided [RCV000744117] Chr4:165052223..165314229 [GRCh37]
Chr4:4q32.3		 benign
GRCh37/hg19 4q32.3(chr4:165203351-165206072)x1 copy number loss not provided [RCV000744118] Chr4:165203351..165206072 [GRCh37]
Chr4:4q32.3		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.3(chr4:164755286-164822323)x1 copy number loss not provided [RCV001005611] Chr4:164755286..164822323 [GRCh37]
Chr4:4q32.3		 uncertain significance
GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1 copy number loss not provided [RCV001005612] Chr4:165010461..190957473 [GRCh37]
Chr4:4q32.3-35.2		 pathogenic
GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3 copy number gain not provided [RCV000846267] Chr4:165069355..177189728 [GRCh37]
Chr4:4q32.3-34.2		 pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-32.3(chr4:161262167-165564515)x3 copy number gain not provided [RCV000845994] Chr4:161262167..165564515 [GRCh37]
Chr4:4q32.1-32.3		 uncertain significance
GRCh37/hg19 4q32.3(chr4:164980534-166223066)x3 copy number gain not provided [RCV002472715] Chr4:164980534..166223066 [GRCh37]
Chr4:4q32.3		 uncertain significance
GRCh37/hg19 4q32.1-32.3(chr4:161461677-166911259)x1 copy number loss not provided [RCV002473507] Chr4:161461677..166911259 [GRCh37]
Chr4:4q32.1-32.3		 uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
GRCh37/hg19 4q32.3(chr4:164752064-165069661)x3 copy number gain not provided [RCV001005610] Chr4:164752064..165069661 [GRCh37]
Chr4:4q32.3		 likely benign
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) copy number loss Autism with high cognitive abilities [RCV001352663] Chr4:157771352..172496278 [GRCh37]
Chr4:4q32.1-34.1		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765) copy number gain not specified [RCV002053465] Chr4:159755174..190225765 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.3(chr4:165018011-165278347)x1 copy number loss not provided [RCV002474971] Chr4:165018011..165278347 [GRCh37]
Chr4:4q32.3		 uncertain significance
GRCh37/hg19 4q32.3(chr4:165149918-165787022)x3 copy number gain not provided [RCV002472778] Chr4:165149918..165787022 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001394959.1(MARCHF1):c.80A>G (p.Asp27Gly) single nucleotide variant Inborn genetic diseases [RCV003202627] Chr4:163854052 [GRCh38]
Chr4:164775204 [GRCh37]
Chr4:4q32.3		 uncertain significance
NM_001394959.1(MARCHF1):c.1186C>T (p.Arg396Trp) single nucleotide variant Inborn genetic diseases [RCV003309114] Chr4:163585754 [GRCh38]
Chr4:164506906 [GRCh37]
Chr4:4q32.2		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1 copy number loss not specified [RCV003986532] Chr4:161589441..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5028
Count of miRNA genes:1126
Interacting mature miRNAs:1410
Transcripts:ENST00000274056, ENST00000339875, ENST00000503008, ENST00000503104, ENST00000505391, ENST00000505517, ENST00000507270, ENST00000508725, ENST00000510075, ENST00000510696, ENST00000510786, ENST00000511245, ENST00000512214, ENST00000514618, ENST00000515471
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
D4S2398  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,179,477 - 165,179,596UniSTSGRCh37
Build 364165,398,927 - 165,399,046RGDNCBI36
Celera4162,512,012 - 162,512,131RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,933,314 - 160,933,433UniSTS
Marshfield Genetic Map4164.81UniSTS
Marshfield Genetic Map4164.81RGD
SHGC-57357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,449,885 - 164,450,054UniSTSGRCh37
Build 364164,669,335 - 164,669,504RGDNCBI36
Celera4161,782,154 - 161,782,323RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,203,781 - 160,203,950UniSTS
TNG Radiation Hybrid Map498002.0UniSTS
G34235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,060,589 - 165,060,728UniSTSGRCh37
Build 364165,280,039 - 165,280,178RGDNCBI36
Celera4162,393,132 - 162,393,271RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,814,429 - 160,814,569UniSTS
WI-19849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,445,871 - 164,446,127UniSTSGRCh37
Build 364164,665,321 - 164,665,577RGDNCBI36
Celera4161,778,141 - 161,778,397RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,199,746 - 160,200,002UniSTS
GeneMap99-GB4 RH Map4655.45UniSTS
Whitehead-RH Map4716.4UniSTS
NCBI RH Map41663.5UniSTS
SHGC-32105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,448,274 - 164,448,407UniSTSGRCh37
Build 364164,667,724 - 164,667,857RGDNCBI36
Celera4161,780,544 - 161,780,677RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,202,160 - 160,202,293UniSTS
TNG Radiation Hybrid Map498053.0UniSTS
Stanford-G3 RH Map48924.0UniSTS
GeneMap99-GB4 RH Map4655.65UniSTS
Whitehead-RH Map4717.1UniSTS
NCBI RH Map41658.7UniSTS
GeneMap99-G3 RH Map48849.0UniSTS
A008U27  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,449,804 - 164,450,007UniSTSGRCh37
Build 364164,669,254 - 164,669,457RGDNCBI36
Celera4161,782,073 - 161,782,276RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,203,700 - 160,203,903UniSTS
GeneMap99-GB4 RH Map4663.77UniSTS
NCBI RH Map41671.6UniSTS
STS-Z41099  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,446,018 - 164,446,101UniSTSGRCh37
Build 364164,665,468 - 164,665,551RGDNCBI36
Celera4161,778,288 - 161,778,371RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,199,893 - 160,199,976UniSTS
GeneMap99-GB4 RH Map4654.82UniSTS
NCBI RH Map41659.5UniSTS
D4S2834  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,452,863 - 164,453,017UniSTSGRCh37
Build 364164,672,313 - 164,672,467RGDNCBI36
Celera4161,785,130 - 161,785,284RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,206,757 - 160,206,911UniSTS
TNG Radiation Hybrid Map498006.0UniSTS
Stanford-G3 RH Map48919.0UniSTS
Whitehead-RH Map4706.9UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map41668.2UniSTS
RH93599  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,446,069 - 164,446,188UniSTSGRCh37
Build 364164,665,519 - 164,665,638RGDNCBI36
Celera4161,778,339 - 161,778,458RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,199,944 - 160,200,063UniSTS
GeneMap99-GB4 RH Map4655.65UniSTS
SHGC-68564  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,902,989 - 164,903,265UniSTSGRCh37
Build 364165,122,439 - 165,122,715RGDNCBI36
Celera4162,235,579 - 162,235,855RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,655,946 - 160,656,222UniSTS
TNG Radiation Hybrid Map4101658.0UniSTS
SHGC-83381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,213,122 - 165,213,394UniSTSGRCh37
Build 364165,432,572 - 165,432,844RGDNCBI36
Celera4162,545,677 - 162,545,949RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,966,953 - 160,967,225UniSTS
TNG Radiation Hybrid Map498355.0UniSTS
RH118423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,110,237 - 165,110,564UniSTSGRCh37
Build 364165,329,687 - 165,330,014RGDNCBI36
Celera4162,442,788 - 162,443,115RGD
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map4q32.2UniSTS
HuRef4160,864,094 - 160,864,421UniSTS
TNG Radiation Hybrid Map498284.0UniSTS
RH119644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,744,256 - 164,744,547UniSTSGRCh37
Build 364164,963,706 - 164,963,997RGDNCBI36
Celera4162,075,669 - 162,075,960RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,497,129 - 160,497,420UniSTS
TNG Radiation Hybrid Map4101552.0UniSTS
G60133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,564,745 - 164,564,970UniSTSGRCh37
Build 364164,784,195 - 164,784,420RGDNCBI36
Celera4161,897,019 - 161,897,244RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,318,150 - 160,318,375UniSTS
TNG Radiation Hybrid Map4101508.0UniSTS
RH118996  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,882,589 - 164,882,903UniSTSGRCh37
Build 364165,102,039 - 165,102,353RGDNCBI36
Celera4162,215,187 - 162,215,501RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,635,559 - 160,635,873UniSTS
TNG Radiation Hybrid Map4101669.0UniSTS
G62506  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,202,534 - 165,202,843UniSTSGRCh37
Build 364165,421,984 - 165,422,293RGDNCBI36
Celera4162,535,085 - 162,535,394RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,956,361 - 160,956,670UniSTS
TNG Radiation Hybrid Map498344.0UniSTS
Hspa5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,111,607 - 165,111,742UniSTSGRCh37
Build 364165,331,057 - 165,331,192RGDNCBI36
Celera4162,444,158 - 162,444,293RGD
HuRef4160,865,464 - 160,865,599UniSTS
SHGC-110883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,598,901 - 164,599,229UniSTSGRCh37
Build 364164,818,351 - 164,818,679RGDNCBI36
Celera4161,931,175 - 161,931,503RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,352,303 - 160,352,631UniSTS
TNG Radiation Hybrid Map4101484.0UniSTS
SHGC-142348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,829,706 - 164,829,985UniSTSGRCh37
Build 364165,049,156 - 165,049,435RGDNCBI36
Celera4162,162,255 - 162,162,534RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,582,764 - 160,583,043UniSTS
TNG Radiation Hybrid Map4101643.0UniSTS
SHGC-142859  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,160,719 - 165,161,040UniSTSGRCh37
Build 364165,380,169 - 165,380,490RGDNCBI36
Celera4162,493,260 - 162,493,581RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,914,556 - 160,914,877UniSTS
TNG Radiation Hybrid Map498337.0UniSTS
SHGC-145201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,857,526 - 164,857,726UniSTSGRCh37
Build 364165,076,976 - 165,077,176RGDNCBI36
Celera4162,190,159 - 162,190,359RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,610,580 - 160,610,780UniSTS
TNG Radiation Hybrid Map4101627.0UniSTS
SHGC-147381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,615,326 - 164,615,603UniSTSGRCh37
Build 364164,834,776 - 164,835,053RGDNCBI36
Celera4161,947,600 - 161,947,877RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,368,393 - 160,368,670UniSTS
TNG Radiation Hybrid Map4101496.0UniSTS
SHGC-147934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,615,787 - 164,616,080UniSTSGRCh37
Build 364164,835,237 - 164,835,530RGDNCBI36
Celera4161,948,061 - 161,948,354RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,368,854 - 160,369,147UniSTS
TNG Radiation Hybrid Map4101488.0UniSTS
D4S1378  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,060,522 - 165,060,684UniSTSGRCh37
Build 364165,279,972 - 165,280,134RGDNCBI36
Celera4162,393,065 - 162,393,227RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,814,362 - 160,814,525UniSTS
SHGC-112118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,712,969 - 164,713,289UniSTSGRCh37
Build 364164,932,419 - 164,932,739RGDNCBI36
Celera4162,044,401 - 162,044,721RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,465,860 - 160,466,180UniSTS
TNG Radiation Hybrid Map4101545.0UniSTS
KS702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,230,323 - 165,230,481UniSTSGRCh37
Build 364165,449,773 - 165,449,931RGDNCBI36
Celera4162,562,874 - 162,563,032RGD
HuRef4160,984,151 - 160,984,309UniSTS
G41991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,719,627 - 164,719,739UniSTSGRCh37
Build 364164,939,077 - 164,939,189RGDNCBI36
Celera4162,051,057 - 162,051,169RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,472,518 - 160,472,630UniSTS
TNG Radiation Hybrid Map4101538.0UniSTS
D4S3090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374165,082,624 - 165,082,762UniSTSGRCh37
Build 364165,302,074 - 165,302,212RGDNCBI36
Celera4162,415,180 - 162,415,318RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,836,489 - 160,836,627UniSTS
Whitehead-RH Map4718.3UniSTS
Whitehead-YAC Contig Map4 UniSTS
STS-M78266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,561,913 - 164,562,011UniSTSGRCh37
Build 364164,781,363 - 164,781,461RGDNCBI36
Celera4161,894,165 - 161,894,263RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,315,296 - 160,315,394UniSTS
GeneMap99-GB4 RH Map4656.48UniSTS
D4S2332  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,846,722 - 164,846,925UniSTSGRCh37
Build 364165,066,172 - 165,066,375RGDNCBI36
Celera4162,179,319 - 162,179,522RGD
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map4q32.3UniSTS
HuRef4160,599,778 - 160,599,981UniSTS
Whitehead-YAC Contig Map4 UniSTS
1026  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,836,765 - 164,836,841UniSTSGRCh37
Build 364165,056,215 - 165,056,291RGDNCBI36
Celera4162,169,312 - 162,169,388RGD
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map4q32.3UniSTS
HuRef4160,589,820 - 160,589,896UniSTS
GeneMap99-GB4 RH Map4661.85UniSTS
NCBI RH Map41667.7UniSTS
D4S3086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,445,937 - 164,446,037UniSTSGRCh37
Build 364164,665,387 - 164,665,487RGDNCBI36
Celera4161,778,207 - 161,778,307RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,199,812 - 160,199,912UniSTS
GeneMap99-GB4 RH Map4654.82UniSTS
Whitehead-RH Map4714.7UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S866  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,940,186 - 164,940,383UniSTSGRCh37
Build 364165,159,636 - 165,159,833RGDNCBI36
Celera4162,272,753 - 162,272,950RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,693,997 - 160,694,194UniSTS
Stanford-G3 RH Map48929.0UniSTS
NCBI RH Map41663.0UniSTS
G33654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,452,899 - 164,452,989UniSTSGRCh37
Build 364164,672,349 - 164,672,439RGDNCBI36
Celera4161,785,166 - 161,785,256RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,206,793 - 160,206,883UniSTS
RH12318  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,592,083 - 164,592,342UniSTSGRCh37
Build 364164,811,533 - 164,811,792RGDNCBI36
Celera4161,924,357 - 161,924,616RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,345,485 - 160,345,744UniSTS
GeneMap99-GB4 RH Map4654.14UniSTS
NCBI RH Map41644.4UniSTS
074ZH11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374164,691,644 - 164,691,752UniSTSGRCh37
Build 364164,911,094 - 164,911,202RGDNCBI36
Celera4162,023,062 - 162,023,158RGD
Cytogenetic Map4q32.2UniSTS
HuRef4160,444,511 - 160,444,607UniSTS
Whitehead-YAC Contig Map4 UniSTS


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
High
Medium 63 132 11 2 524 3 108 5 211 28 57 53 16 99 1
Low 2296 2556 1658 575 1327 415 3858 1591 3484 339 1351 1512 171 1 1185 2339 3
Below cutoff 42 290 50 43 51 42 377 584 23 46 26 29 2 3 349

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001166373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001394959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054350323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV716666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW118953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274056   ⟹   ENSP00000274056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,524,298 - 163,854,178 (-)Ensembl
RefSeq Acc Id: ENST00000339875   ⟹   ENSP00000345676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,527,121 - 163,613,534 (-)Ensembl
RefSeq Acc Id: ENST00000503008   ⟹   ENSP00000427223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,524,718 - 164,384,050 (-)Ensembl
RefSeq Acc Id: ENST00000503104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,700,836 - 164,135,497 (-)Ensembl
RefSeq Acc Id: ENST00000505391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,988,546 - 164,383,953 (-)Ensembl
RefSeq Acc Id: ENST00000505517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,585,592 - 163,613,533 (-)Ensembl
RefSeq Acc Id: ENST00000507270   ⟹   ENSP00000426731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,585,749 - 164,383,989 (-)Ensembl
RefSeq Acc Id: ENST00000508725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,988,543 - 164,383,517 (-)Ensembl
RefSeq Acc Id: ENST00000510075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4164,055,177 - 164,383,517 (-)Ensembl
RefSeq Acc Id: ENST00000510696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,613,367 - 163,988,921 (-)Ensembl
RefSeq Acc Id: ENST00000510786   ⟹   ENSP00000424089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,528,650 - 163,613,513 (-)Ensembl
RefSeq Acc Id: ENST00000511245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,612,682 - 163,613,510 (-)Ensembl
RefSeq Acc Id: ENST00000512214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,583,653 - 163,612,905 (-)Ensembl
RefSeq Acc Id: ENST00000514618   ⟹   ENSP00000421322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,524,718 - 164,384,019 (-)Ensembl
RefSeq Acc Id: ENST00000515471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4163,988,581 - 164,383,566 (-)Ensembl
RefSeq Acc Id: NM_001166373   ⟹   NP_001159845
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,524,298 - 164,383,517 (-)NCBI
GRCh374164,445,450 - 165,305,093 (-)NCBI
Celera4161,777,720 - 162,636,895 (-)RGD
HuRef4160,199,325 - 161,058,221 (-)RGD
CHM1_14164,421,900 - 165,280,873 (-)NCBI
T2T-CHM13v2.04166,872,170 - 167,731,186 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001394959   ⟹   NP_001381888
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,524,718 - 164,384,019 (-)NCBI
T2T-CHM13v2.04166,872,590 - 167,731,688 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017923   ⟹   NP_060393
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,524,298 - 163,613,534 (-)NCBI
GRCh374164,445,450 - 165,305,093 (-)NCBI
Build 364164,668,499 - 164,754,226 (-)NCBI Archive
Celera4161,777,720 - 162,636,895 (-)RGD
HuRef4160,199,325 - 161,058,221 (-)RGD
CHM1_14164,421,900 - 164,511,230 (-)NCBI
T2T-CHM13v2.04166,872,170 - 166,960,931 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008334   ⟹   XP_016863823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,524,298 - 163,861,249 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008335   ⟹   XP_016863824
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,524,298 - 164,384,019 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008336   ⟹   XP_016863825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,524,298 - 164,384,019 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047415869   ⟹   XP_047271825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,524,298 - 164,383,517 (-)NCBI
RefSeq Acc Id: XM_054350320   ⟹   XP_054206295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04166,872,170 - 167,731,230 (-)NCBI
RefSeq Acc Id: XM_054350321   ⟹   XP_054206296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04166,872,170 - 167,208,850 (-)NCBI
RefSeq Acc Id: XM_054350322   ⟹   XP_054206297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04166,872,170 - 167,731,688 (-)NCBI
RefSeq Acc Id: XM_054350323   ⟹   XP_054206298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04166,872,170 - 167,731,735 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_060393   ⟸   NM_017923
- Peptide Label: isoform 2
- UniProtKB: A8K0Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001159845   ⟸   NM_001166373
- Peptide Label: isoform 1
- UniProtKB: D3DP29 (UniProtKB/Swiss-Prot),   Q9NWR0 (UniProtKB/Swiss-Prot),   Q8TCQ1 (UniProtKB/Swiss-Prot),   A8K0Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863825   ⟸   XM_017008336
- Peptide Label: isoform X3
- UniProtKB: A8K0Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863824   ⟸   XM_017008335
- Peptide Label: isoform X3
- UniProtKB: A8K0Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016863823   ⟸   XM_017008334
- Peptide Label: isoform X2
- UniProtKB: D3DP29 (UniProtKB/Swiss-Prot),   Q9NWR0 (UniProtKB/Swiss-Prot),   Q8TCQ1 (UniProtKB/Swiss-Prot),   A8K0Z6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000427223   ⟸   ENST00000503008
RefSeq Acc Id: ENSP00000426731   ⟸   ENST00000507270
RefSeq Acc Id: ENSP00000345676   ⟸   ENST00000339875
RefSeq Acc Id: ENSP00000274056   ⟸   ENST00000274056
RefSeq Acc Id: ENSP00000424089   ⟸   ENST00000510786
RefSeq Acc Id: ENSP00000421322   ⟸   ENST00000514618
RefSeq Acc Id: NP_001381888   ⟸   NM_001394959
- Peptide Label: isoform 3
- UniProtKB: D6RGC4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047271825   ⟸   XM_047415869
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206298   ⟸   XM_054350323
- Peptide Label: isoform X3
- UniProtKB: A8K0Z6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206297   ⟸   XM_054350322
- Peptide Label: isoform X3
- UniProtKB: A8K0Z6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054206295   ⟸   XM_054350320
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054206296   ⟸   XM_054350321
- Peptide Label: isoform X2
- UniProtKB: A8K0Z6 (UniProtKB/TrEMBL)
Protein Domains
RING-CH-type   RING-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TCQ1-F1-model_v2 AlphaFold Q8TCQ1 1-289 view protein structure

Promoters
RGD ID:6868816
Promoter ID:EPDNEW_H7573
Type:initiation region
Name:MARCH1_1
Description:membrane associated ring-CH-type finger 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7574  EPDNEW_H7575  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384163,613,532 - 163,613,592EPDNEW
RGD ID:6868818
Promoter ID:EPDNEW_H7574
Type:multiple initiation site
Name:MARCH1_2
Description:membrane associated ring-CH-type finger 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7573  EPDNEW_H7575  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384164,197,488 - 164,197,548EPDNEW
RGD ID:6868820
Promoter ID:EPDNEW_H7575
Type:initiation region
Name:MARCH1_3
Description:membrane associated ring-CH-type finger 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7573  EPDNEW_H7574  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384164,384,019 - 164,384,079EPDNEW
RGD ID:6802451
Promoter ID:HG_KWN:49395
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_017923
Position:
Human AssemblyChrPosition (strand)Source
Build 364164,753,826 - 164,754,326 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26077 AgrOrtholog
COSMIC MARCHF1 COSMIC
Ensembl Genes ENSG00000145416 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000274056 ENTREZGENE
  ENST00000274056.11 UniProtKB/Swiss-Prot
  ENST00000339875 ENTREZGENE
  ENST00000339875.9 UniProtKB/Swiss-Prot
  ENST00000503008 ENTREZGENE
  ENST00000503008.5 UniProtKB/Swiss-Prot
  ENST00000507270.5 UniProtKB/TrEMBL
  ENST00000510786.1 UniProtKB/TrEMBL
  ENST00000514618 ENTREZGENE
  ENST00000514618.6 UniProtKB/TrEMBL
Gene3D-CATH 3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000145416 GTEx
HGNC ID HGNC:26077 ENTREZGENE
Human Proteome Map MARCHF1 Human Proteome Map
InterPro Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING-CH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55016 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55016 ENTREZGENE
OMIM 613331 OMIM
PANTHER E3 UBIQUITIN-PROTEIN LIGASE MARCHF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LD02310P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RINGv UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134986392 PharmGKB
PROSITE ZF_RING_2 UniProtKB/TrEMBL
  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 A8K0Z6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z739_HUMAN UniProtKB/TrEMBL
  D3DP29 ENTREZGENE
  D6REN1_HUMAN UniProtKB/TrEMBL
  D6RGC4 ENTREZGENE, UniProtKB/TrEMBL
  MARH1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9NWR0 ENTREZGENE
UniProt Secondary D3DP29 UniProtKB/Swiss-Prot
  Q9NWR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-16 MARCHF1  membrane associated ring-CH-type finger 1  MARCH1  membrane associated ring-CH-type finger 1  Symbol and/or name change 5135510 APPROVED
2015-12-01 MARCH1  membrane associated ring-CH-type finger 1  MARCH1  membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase  Symbol and/or name change 5135510 APPROVED
2012-03-01 MARCH1  membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase  MARCH1  membrane-associated ring finger (C3HC4) 1  Symbol and/or name change 5135510 APPROVED