MELTF (melanotransferrin) - Rat Genome Database

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Gene: MELTF (melanotransferrin) Homo sapiens
Analyze
Symbol: MELTF
Name: melanotransferrin
RGD ID: 1317764
HGNC Page HGNC:7037
Description: Enables iron ion binding activity. Involved in several processes, including negative regulation of substrate adhesion-dependent cell spreading; positive regulation of extracellular matrix disassembly; and positive regulation of plasminogen activation. Located in cell surface and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5; CD228; FLJ38863; MAP97; melanoma-associated antigen p97, isoform 2; membrane-bound transferrin-like protein; MFI2; MGC4856; MTf; MTF1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383197,001,740 - 197,029,817 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,980,590 - 197,029,835 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,728,611 - 196,756,688 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363198,214,553 - 198,241,083 (-)NCBINCBI36Build 36hg18NCBI36
Build 343198,234,134 - 198,244,952NCBI
Celera3195,315,485 - 195,343,561 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3194,028,926 - 194,056,861 (-)NCBIHuRef
CHM1_13196,699,891 - 196,727,973 (-)NCBICHM1_1
T2T-CHM13v2.03199,727,923 - 199,756,006 (-)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 Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1544447   PMID:1633859   PMID:2419904   PMID:2463331   PMID:2540389   PMID:3010712   PMID:3754536   PMID:6843660   PMID:7556058   PMID:8300636   PMID:8705293   PMID:9176405  
PMID:10691965   PMID:10737800   PMID:11337467   PMID:11852110   PMID:12230555   PMID:12477932   PMID:12710945   PMID:12750156   PMID:12809550   PMID:12860420   PMID:14702039   PMID:15489334  
PMID:15716025   PMID:16449191   PMID:16449192   PMID:16449195   PMID:16704991   PMID:16713448   PMID:17170699   PMID:17196552   PMID:17227112   PMID:17449903   PMID:17452986   PMID:17570828  
PMID:18691669   PMID:19056867   PMID:19199708   PMID:19815549   PMID:20458337   PMID:21190562   PMID:21873635   PMID:23376485   PMID:23533145   PMID:25216327   PMID:25416956   PMID:26186194  
PMID:26439863   PMID:26760575   PMID:27342126   PMID:28514442   PMID:29924966   PMID:29987050   PMID:30561431   PMID:31586073   PMID:31704840   PMID:32296183   PMID:32780723   PMID:33746574  
PMID:33931586   PMID:33961781   PMID:35156780   PMID:35696571   PMID:36303086   PMID:36543142   PMID:37820570   PMID:38245532   PMID:38326645  


Genomics

Comparative Map Data
MELTF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383197,001,740 - 197,029,817 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,980,590 - 197,029,835 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,728,611 - 196,756,688 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363198,214,553 - 198,241,083 (-)NCBINCBI36Build 36hg18NCBI36
Build 343198,234,134 - 198,244,952NCBI
Celera3195,315,485 - 195,343,561 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3194,028,926 - 194,056,861 (-)NCBIHuRef
CHM1_13196,699,891 - 196,727,973 (-)NCBICHM1_1
T2T-CHM13v2.03199,727,923 - 199,756,006 (-)NCBIT2T-CHM13v2.0
Meltf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391631,697,449 - 31,717,838 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1631,697,628 - 31,717,838 (+)EnsemblGRCm39 Ensembl
GRCm381631,878,629 - 31,899,020 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1631,878,810 - 31,899,020 (+)EnsemblGRCm38mm10GRCm38
MGSCv371631,878,896 - 31,899,106 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361631,798,557 - 31,818,767 (+)NCBIMGSCv36mm8
Celera1632,372,678 - 32,392,986 (+)NCBICelera
Cytogenetic Map16B2NCBI
cM Map1622.4NCBI
Meltf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81182,389,420 - 82,411,270 (-)NCBIGRCr8
mRatBN7.21168,884,446 - 68,906,300 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1168,884,446 - 68,906,300 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1177,721,502 - 77,743,348 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01170,378,082 - 70,399,924 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01169,410,595 - 69,432,442 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01172,135,311 - 72,158,106 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1172,135,668 - 72,157,522 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01175,210,907 - 75,232,739 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41170,706,384 - 70,728,239 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11170,763,761 - 70,789,919 (-)NCBI
Celera1168,306,411 - 68,328,215 (-)NCBICelera
Cytogenetic Map11q22NCBI
Meltf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542013,035,309 - 13,055,548 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542013,036,767 - 13,055,477 (-)NCBIChiLan1.0ChiLan1.0
MELTF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22194,871,162 - 194,899,434 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13194,877,388 - 194,904,154 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03194,345,474 - 194,373,690 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13204,283,094 - 204,310,867 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3204,262,182 - 204,310,710 (-)Ensemblpanpan1.1panPan2
MELTF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13329,985,007 - 30,006,437 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3329,985,206 - 30,003,742 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3330,009,799 - 30,029,326 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03330,234,505 - 30,254,139 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3330,234,535 - 30,254,104 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13330,028,940 - 30,048,487 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03330,065,764 - 30,085,678 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03330,687,031 - 30,706,694 (-)NCBIUU_Cfam_GSD_1.0
Meltf
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602143,060,677 - 143,084,817 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936833853,007 - 875,547 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936833853,925 - 875,069 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MELTF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13133,094,863 - 133,122,065 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113133,094,869 - 133,122,092 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213142,726,198 - 142,753,704 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MELTF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11590,225,699 - 90,254,893 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1590,225,780 - 90,255,263 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604164,002,116 - 64,030,310 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Meltf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473061,971,877 - 61,988,902 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473061,967,868 - 61,990,576 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MELTF
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196280954-197590232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|See cases [RCV000053126] Chr3:196280954..197590232 [GRCh38]
Chr3:196007825..197317103 [GRCh37]
Chr3:197492222..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Atypical behavior [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196657995-197656512)x1 copy number loss not specified [RCV003986431] Chr3:196657995..197656512 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:196812829-197938552)x3 copy number gain See cases [RCV000138900] Chr3:196812829..197938552 [GRCh38]
Chr3:196539700..197665423 [GRCh37]
Chr3:198024097..199149820 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196832991-197182319)x3 copy number gain See cases [RCV000141425] Chr3:196832991..197182319 [GRCh38]
Chr3:196559862..196909190 [GRCh37]
Chr3:198044259..198393587 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196841258-197590173)x3 copy number gain See cases [RCV000141426] Chr3:196841258..197590173 [GRCh38]
Chr3:196568129..197317044 [GRCh37]
Chr3:198052526..198801441 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196418334-198125115)x3 copy number gain See cases [RCV000141811] Chr3:196418334..198125115 [GRCh38]
Chr3:196145205..197851986 [GRCh37]
Chr3:197629602..199336383 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29		 conflicting data from submitters
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196281672-197681798)x3 copy number gain See cases [RCV000239963] Chr3:196281672..197681798 [GRCh37]
Chr3:3q29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss Chromosome 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196586363-196952733)x3 copy number gain not provided [RCV000682359] Chr3:196586363..196952733 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autism [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29		 likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196154147)_(197376501_?)del deletion Schizophrenia [RCV000754279] Chr3:196154147..197376501 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196728706-196730182)x1 copy number loss not provided [RCV000743119] Chr3:196728706..196730182 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_005929.6(MELTF):c.163G>A (p.Val55Ile) single nucleotide variant not provided [RCV000903409] Chr3:197027797 [GRCh38]
Chr3:196754668 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196752710-196793335)x3 copy number gain not provided [RCV000849477] Chr3:196752710..196793335 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196381502-196771786)x3 copy number gain not provided [RCV001249434] Chr3:196381502..196771786 [GRCh37]
Chr3:3q29		 not provided
GRCh37/hg19 3q29(chr3:196592131-196919105)x3 copy number gain not provided [RCV001005504] Chr3:196592131..196919105 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196552734-197498996)x3 copy number gain not provided [RCV001259833] Chr3:196552734..197498996 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195703615-197386180) copy number loss Chromosome 3q29 microdeletion syndrome [RCV002280743] Chr3:195703615..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195693872-197376871)x3 copy number gain See cases [RCV001526486] Chr3:195693872..197376871 [GRCh37]
Chr3:3q29		 risk factor
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1 copy number loss not provided [RCV001795848] Chr3:191866466..197842171 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:194790394-197961930)x3 copy number gain Chromosome 3q29 microdeletion syndrome [RCV001801188] Chr3:194790394..197961930 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195993691-197851986)x3 copy number gain not provided [RCV001827845] Chr3:195993691..197851986 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195914129-196804639)x1 copy number loss not provided [RCV001827937] Chr3:195914129..196804639 [GRCh37]
Chr3:3q29		 pathogenic
Single allele deletion Chromosome 3q29 microdeletion syndrome [RCV002247703] Chr3:195833012..197340883 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195690228-197356334)x1 copy number loss not provided [RCV002474511] Chr3:195690228..197356334 [GRCh37]
Chr3:3q29		 pathogenic
NM_005929.6(MELTF):c.490G>C (p.Val164Leu) single nucleotide variant Inborn genetic diseases [RCV002754099] Chr3:197023111 [GRCh38]
Chr3:196749982 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.1441G>T (p.Gly481Cys) single nucleotide variant Inborn genetic diseases [RCV002754474] Chr3:197009702 [GRCh38]
Chr3:196736573 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.1619A>G (p.Gln540Arg) single nucleotide variant Inborn genetic diseases [RCV002682110] Chr3:197008872 [GRCh38]
Chr3:196735743 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.2209G>A (p.Ala737Thr) single nucleotide variant Inborn genetic diseases [RCV002973371] Chr3:197003380 [GRCh38]
Chr3:196730251 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.824G>A (p.Arg275Gln) single nucleotide variant Inborn genetic diseases [RCV002919303] Chr3:197017179 [GRCh38]
Chr3:196744050 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.1192G>C (p.Val398Leu) single nucleotide variant Inborn genetic diseases [RCV002987528] Chr3:197015406 [GRCh38]
Chr3:196742277 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.592G>A (p.Val198Met) single nucleotide variant Inborn genetic diseases [RCV002699079] Chr3:197023009 [GRCh38]
Chr3:196749880 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.86C>T (p.Ser29Leu) single nucleotide variant Inborn genetic diseases [RCV002669251] Chr3:197027874 [GRCh38]
Chr3:196754745 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.404A>G (p.Asn135Ser) single nucleotide variant Inborn genetic diseases [RCV002989187] Chr3:197024386 [GRCh38]
Chr3:196751257 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.643C>T (p.Arg215Trp) single nucleotide variant Inborn genetic diseases [RCV003010607] Chr3:197022958 [GRCh38]
Chr3:196749829 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.1090C>T (p.Pro364Ser) single nucleotide variant Inborn genetic diseases [RCV002702557] Chr3:197015508 [GRCh38]
Chr3:196742379 [GRCh37]
Chr3:3q29		 uncertain significance
NM_005929.6(MELTF):c.395C>T (p.Thr132Met) single nucleotide variant Inborn genetic diseases [RCV002674717] Chr3:197024395 [GRCh38]
Chr3:196751266 [GRCh37]
Chr3:3q29		 uncertain significance
NC_000003.11:g.(?_195591052)_(197682644_?)dup duplication not provided [RCV003154915] Chr3:195591052..197682644 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195950438-197629463) copy number loss See cases [RCV003223585] Chr3:195950438..197629463 [GRCh38]
Chr3:3q29		 pathogenic
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:196190723-197605588)x3 copy number gain not provided [RCV003484163] Chr3:196190723..197605588 [GRCh37]
Chr3:3q29		 pathogenic
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2622
Count of miRNA genes:993
Interacting mature miRNAs:1243
Transcripts:ENST00000296350, ENST00000296351, ENST00000439320, ENST00000469783, ENST00000473501, ENST00000489445, ENST00000491399
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH102338  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,731,316 - 196,731,450UniSTSGRCh37
Build 363198,215,713 - 198,215,847RGDNCBI36
Celera3195,318,190 - 195,318,324RGD
Cytogenetic Map3q28-q29UniSTS
HuRef3194,031,490 - 194,031,624UniSTS
GeneMap99-GB4 RH Map3730.73UniSTS
MFI2_8468  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,745,703 - 196,746,489UniSTSGRCh37
Build 363198,230,100 - 198,230,886RGDNCBI36
Celera3195,332,577 - 195,333,363RGD
HuRef3194,045,877 - 194,046,663UniSTS
STS-M12154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,730,778 - 196,730,899UniSTSGRCh37
Build 363198,215,175 - 198,215,296RGDNCBI36
Celera3195,317,652 - 195,317,773RGD
Cytogenetic Map3q28-q29UniSTS
HuRef3194,030,952 - 194,031,073UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
D1S3690  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p33UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map13q22.2UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map9q33UniSTS
GDB:181216  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q28-q29UniSTS
UniSTS:490436  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,728,716 - 196,729,558UniSTSGRCh37
Celera3195,315,590 - 195,316,432UniSTS
HuRef3194,029,031 - 194,029,873UniSTS


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 243 58 75 147 405 33 1033 74 55 59 340 228 123 329 533 1
Low 2183 2327 1352 332 921 287 2774 1588 3623 291 1108 1377 52 1 875 1709 3 1
Below cutoff 12 598 298 145 610 145 549 531 52 69 10 5 546 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_005929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A00127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA442552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU099352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW083943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ332373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ447289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC504928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296350   ⟹   ENSP00000296350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,001,740 - 197,029,817 (-)Ensembl
RefSeq Acc Id: ENST00000296351   ⟹   ENSP00000296351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,018,953 - 197,029,791 (-)Ensembl
RefSeq Acc Id: ENST00000439320   ⟹   ENSP00000393439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,023,854 - 197,029,787 (-)Ensembl
RefSeq Acc Id: ENST00000445739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,982,571 - 197,004,179 (-)Ensembl
RefSeq Acc Id: ENST00000469783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,980,590 - 197,004,528 (-)Ensembl
RefSeq Acc Id: ENST00000473501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,025,542 - 197,029,294 (-)Ensembl
RefSeq Acc Id: ENST00000489445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,021,294 - 197,023,095 (-)Ensembl
RefSeq Acc Id: ENST00000491399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,024,335 - 197,027,064 (-)Ensembl
RefSeq Acc Id: ENST00000696016   ⟹   ENSP00000512332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,004,766 - 197,029,835 (-)Ensembl
RefSeq Acc Id: NM_005929   ⟹   NP_005920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,001,740 - 197,029,817 (-)NCBI
GRCh373196,728,611 - 196,756,687 (-)ENTREZGENE
Build 363198,214,553 - 198,241,083 (-)NCBI Archive
HuRef3194,028,926 - 194,056,861 (-)ENTREZGENE
CHM1_13196,699,891 - 196,727,973 (-)NCBI
T2T-CHM13v2.03199,727,923 - 199,756,006 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033316   ⟹   NP_201573
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,018,953 - 197,029,817 (-)NCBI
GRCh373196,728,611 - 196,756,687 (-)ENTREZGENE
Build 363198,230,221 - 198,241,083 (-)NCBI Archive
HuRef3194,028,926 - 194,056,861 (-)ENTREZGENE
CHM1_13196,717,110 - 196,727,972 (-)NCBI
T2T-CHM13v2.03199,745,142 - 199,756,006 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713643   ⟹   XP_006713706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,001,740 - 197,029,817 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512850   ⟹   XP_011511152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,001,740 - 197,029,817 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448150   ⟹   XP_047304106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,001,740 - 197,029,817 (-)NCBI
RefSeq Acc Id: XM_054346561   ⟹   XP_054202536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,727,923 - 199,756,006 (-)NCBI
RefSeq Acc Id: XM_054346562   ⟹   XP_054202537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,727,923 - 199,756,006 (-)NCBI
RefSeq Acc Id: XM_054346563   ⟹   XP_054202538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,727,923 - 199,756,006 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_005920   ⟸   NM_005929
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q9BQE2 (UniProtKB/Swiss-Prot),   P08582 (UniProtKB/Swiss-Prot),   A0A8Q3WLY9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_201573   ⟸   NM_033316
- Peptide Label: isoform 2 precursor
- UniProtKB: Q53XS6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006713706   ⟸   XM_006713643
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011511152   ⟸   XM_011512850
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000393439   ⟸   ENST00000439320
RefSeq Acc Id: ENSP00000296351   ⟸   ENST00000296351
RefSeq Acc Id: ENSP00000296350   ⟸   ENST00000296350
RefSeq Acc Id: ENSP00000512332   ⟸   ENST00000696016
RefSeq Acc Id: XP_047304106   ⟸   XM_047448150
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054202538   ⟸   XM_054346563
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054202537   ⟸   XM_054346562
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054202536   ⟸   XM_054346561
- Peptide Label: isoform X1
Protein Domains
Transferrin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08582-F1-model_v2 AlphaFold P08582 1-738 view protein structure

Promoters
RGD ID:6866724
Promoter ID:EPDNEW_H6526
Type:initiation region
Name:MELTF_1
Description:melanotransferrin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,029,786 - 197,029,846EPDNEW
RGD ID:6801294
Promoter ID:HG_KWN:47518
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000340464
Position:
Human AssemblyChrPosition (strand)Source
Build 363198,215,149 - 198,215,649 (-)MPROMDB
RGD ID:6812343
Promoter ID:HG_ACW:57614
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:MFI2.HAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 363198,227,434 - 198,227,934 (-)MPROMDB
RGD ID:6801293
Promoter ID:HG_KWN:47519
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000340462
Position:
Human AssemblyChrPosition (strand)Source
Build 363198,234,236 - 198,234,982 (-)MPROMDB
RGD ID:6801292
Promoter ID:HG_KWN:47520
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000340463
Position:
Human AssemblyChrPosition (strand)Source
Build 363198,237,726 - 198,238,226 (-)MPROMDB
RGD ID:6801291
Promoter ID:HG_KWN:47521
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_033316,   OTTHUMT00000340458,   OTTHUMT00000340459,   OTTHUMT00000340460,   OTTHUMT00000340461
Position:
Human AssemblyChrPosition (strand)Source
Build 363198,239,956 - 198,241,117 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7037 AgrOrtholog
COSMIC MELTF COSMIC
Ensembl Genes ENSG00000163975 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296350 ENTREZGENE
  ENST00000296350.10 UniProtKB/Swiss-Prot
  ENST00000296351 ENTREZGENE
  ENST00000296351.8 UniProtKB/Swiss-Prot
  ENST00000439320.1 UniProtKB/TrEMBL
  ENST00000696016.1 UniProtKB/TrEMBL
Gene3D-CATH Periplasmic binding protein-like II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163975 GTEx
HGNC ID HGNC:7037 ENTREZGENE
Human Proteome Map MELTF Human Proteome Map
InterPro Transferrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferrin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferrin_Fe_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4241 UniProtKB/Swiss-Prot
NCBI Gene 4241 ENTREZGENE
OMIM 155750 OMIM
PANTHER LD22449P UniProtKB/TrEMBL
  PTHR11485:SF21 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFERRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Transferrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30774 PharmGKB
PIRSF Transferrin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS TRANSFERRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TRANSFERRIN_LIKE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFERRIN_LIKE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFERRIN_LIKE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFERRIN_LIKE_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TR_FER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Periplasmic binding protein-like II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8Q3WLY9 ENTREZGENE, UniProtKB/TrEMBL
  C9JVN1_HUMAN UniProtKB/TrEMBL
  P08582 ENTREZGENE
  Q53XS6 ENTREZGENE, UniProtKB/TrEMBL
  Q9BQE2 ENTREZGENE
  TRFM_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9BQE2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 MELTF  melanotransferrin  MFI2  antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5  Symbol and/or name change 5135510 APPROVED