MIR200A (microRNA 200a) - Rat Genome Database

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Gene: MIR200A (microRNA 200a) Homo sapiens
Analyze
Symbol: MIR200A
Name: microRNA 200a
RGD ID: 1348162
HGNC Page HGNC:31578
Description: Enables mRNA base-pairing translational repressor activity. Involved in miRNA-mediated post-transcriptional gene silencing and positive regulation of blood vessel endothelial cell migration. Predicted to be part of RISC complex.
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: mir-200a; MIRN200A
RGD Orthologs
Mouse
Rat
Dog
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
GRCh3811,167,863 - 1,167,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,167,863 - 1,167,952 (+)EnsemblGRCh38hg38GRCh38
GRCh3711,103,243 - 1,103,332 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,093,105 - 1,093,194 (+)NCBINCBI36Build 36hg18NCBI36
Celera11,479,492 - 1,479,581 (-)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1374,624 - 374,713 (+)NCBIHuRef
CHM1_111,090,213 - 1,090,302 (+)NCBICHM1_1
T2T-CHM13v2.01596,460 - 596,549 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component
RISC complex  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Gli3 is a novel downstream target of miR‑200a with an anti‑fibrotic role for progression of liver fibrosis in vivo and in vitro. Li L, etal., Mol Med Rep. 2020 Apr;21(4):1861-1871. doi: 10.3892/mmr.2020.10997. Epub 2020 Feb 21.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA in human colorectal cancer by repressing RAS p21 GTPase activating protein 1 (RASA1). Sun D, etal., J Biol Chem. 2013 Mar 29;288(13):9508-18. doi: 10.1074/jbc.M112.367763. Epub 2013 Jan 15.
4. Identifying Involvement of H19-miR-675-3p-IGF1R and H19-miR-200a-PDCD4 in Treating Pulmonary Hypertension with Melatonin. Wang R, etal., Mol Ther Nucleic Acids. 2018 Dec 7;13:44-54. doi: 10.1016/j.omtn.2018.08.015. Epub 2018 Aug 24.
Additional References at PubMed
PMID:12554859   PMID:15634332   PMID:15891114   PMID:16381832   PMID:17604727   PMID:17616659   PMID:18381893   PMID:19501389   PMID:19671845   PMID:19703993   PMID:19931509   PMID:20124485  
PMID:20167074   PMID:20473948   PMID:20514023   PMID:20551052   PMID:20826811   PMID:21037258   PMID:21051560   PMID:21115742   PMID:21237487   PMID:21285251   PMID:21529905   PMID:21596753  
PMID:21698760   PMID:21837748   PMID:21926171   PMID:21955614   PMID:22077060   PMID:22082152   PMID:22101765   PMID:22161972   PMID:22183793   PMID:22294131   PMID:22529366   PMID:22868917  
PMID:22957494   PMID:22987275   PMID:23074016   PMID:23318438   PMID:23329838   PMID:23340296   PMID:23381389   PMID:23455327   PMID:23525011   PMID:23635949   PMID:23679328   PMID:23708087  
PMID:23760980   PMID:23774697   PMID:23784775   PMID:23813959   PMID:23872359   PMID:23888941   PMID:23888967   PMID:23938385   PMID:23943804   PMID:23975430   PMID:24009066   PMID:24162743  
PMID:24280074   PMID:24390222   PMID:24393345   PMID:24413994   PMID:24503464   PMID:24504363   PMID:24521357   PMID:24554510   PMID:24599990   PMID:24627491   PMID:24684598   PMID:24755707  
PMID:24812058   PMID:24830724   PMID:24858044   PMID:24966949   PMID:24969902   PMID:25004804   PMID:25069772   PMID:25116353   PMID:25122764   PMID:25239643   PMID:25269476   PMID:25348003  
PMID:25374174   PMID:25412960   PMID:25422078   PMID:25482402   PMID:25738863   PMID:25750291   PMID:25768283   PMID:25797260   PMID:25813153   PMID:25832648   PMID:25938517   PMID:25972084  
PMID:26045795   PMID:26063644   PMID:26068592   PMID:26184032   PMID:26283635   PMID:26517683   PMID:26586458   PMID:26617701   PMID:26718506   PMID:26797273   PMID:26887977   PMID:27008704  
PMID:27113480   PMID:27189341   PMID:27257068   PMID:27267902   PMID:27285757   PMID:27374174   PMID:27380494   PMID:27402080   PMID:27433802   PMID:27460529   PMID:27473170   PMID:27497669  
PMID:27542259   PMID:27573160   PMID:27734462   PMID:27753009   PMID:27835595   PMID:27983967   PMID:28008308   PMID:28025999   PMID:28057023   PMID:28081727   PMID:28148392   PMID:28164117  
PMID:28179587   PMID:28302418   PMID:28349057   PMID:28403886   PMID:28431233   PMID:28440466   PMID:28488544   PMID:28496200   PMID:28639399   PMID:28677748   PMID:28717923   PMID:28738533  
PMID:28817830   PMID:28857253   PMID:28944840   PMID:29048657   PMID:29105802   PMID:29329575   PMID:29388209   PMID:29442045   PMID:29496454   PMID:29710483   PMID:29765508   PMID:29936262  
PMID:30005075   PMID:30024595   PMID:30171729   PMID:30268479   PMID:30280784   PMID:30338796   PMID:30537722   PMID:30569179   PMID:30784214   PMID:30786836   PMID:30910587   PMID:30962265  
PMID:31026335   PMID:31112871   PMID:31113469   PMID:31150646   PMID:31187349   PMID:31265170   PMID:31266372   PMID:31298342   PMID:31347327   PMID:31486500   PMID:31500453   PMID:31500506  
PMID:31593646   PMID:31772330   PMID:31887809   PMID:32016973   PMID:32017082   PMID:32034251   PMID:32176463   PMID:32236578   PMID:32316405   PMID:32323771   PMID:32324317   PMID:32471743  
PMID:32572929   PMID:32655542   PMID:32683950   PMID:32684096   PMID:32820688   PMID:32841775   PMID:32904674   PMID:33099935   PMID:33150936   PMID:33208870   PMID:33419253   PMID:33568625  
PMID:33599894   PMID:33958720   PMID:34021858   PMID:34086186   PMID:34129971   PMID:34235224   PMID:34448644   PMID:34632930   PMID:34751841   PMID:34903128   PMID:35137328   PMID:35276351  
PMID:35352818   PMID:35371343   PMID:35595718   PMID:36076930   PMID:36195847   PMID:36544170   PMID:37318032   PMID:37874693   PMID:37975481   PMID:38238951   PMID:38372106  


Genomics

Comparative Map Data
MIR200A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811,167,863 - 1,167,952 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11,167,863 - 1,167,952 (+)EnsemblGRCh38hg38GRCh38
GRCh3711,103,243 - 1,103,332 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611,093,105 - 1,093,194 (+)NCBINCBI36Build 36hg18NCBI36
Celera11,479,492 - 1,479,581 (-)NCBICelera
Cytogenetic Map1p36.33NCBI
HuRef1374,624 - 374,713 (+)NCBIHuRef
CHM1_111,090,213 - 1,090,302 (+)NCBICHM1_1
T2T-CHM13v2.01596,460 - 596,549 (+)NCBIT2T-CHM13v2.0
Mir200a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394156,139,353 - 156,139,442 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4156,139,353 - 156,139,442 (-)EnsemblGRCm39 Ensembl
GRCm384156,054,896 - 156,054,985 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4156,054,896 - 156,054,985 (-)EnsemblGRCm38mm10GRCm38
MGSCv374155,429,005 - 155,429,094 (-)NCBIGRCm37MGSCv37mm9NCBIm37
Celera4158,317,292 - 158,317,381 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map487.96NCBI
Mir200a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85171,930,717 - 171,930,805 (-)NCBIGRCr8
mRatBN7.25166,648,494 - 166,648,582 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx5169,352,034 - 169,352,122 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05171,173,456 - 171,173,544 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05171,135,990 - 171,136,078 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05173,489,366 - 173,489,454 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05176,963,388 - 176,963,476 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera5164,849,297 - 164,849,385 (-)NCBICelera
Cytogenetic Map5q36NCBI
MIR200A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1556,369,063 - 56,369,152 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl556,369,061 - 56,369,151 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha556,446,057 - 56,446,146 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0556,571,960 - 56,572,049 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl556,571,958 - 56,572,048 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1556,562,727 - 56,562,816 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0556,454,985 - 56,455,074 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0556,844,978 - 56,845,067 (+)NCBIUU_Cfam_GSD_1.0


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3 copy number gain Distal trisomy 1p36 [RCV000519759] Chr1:852863..4203509 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|See cases [RCV000050339] Chr1:149041013..149699420 [GRCh37]
Chr1:1q21.2		 benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1 copy number loss See cases [RCV000050857] Chr1:844347..3006252 [GRCh38]
Chr1:779727..2922816 [GRCh37]
Chr1:769590..2912676 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1 copy number loss See cases [RCV000050882] Chr1:844347..3712147 [GRCh38]
Chr1:779727..3628711 [GRCh37]
Chr1:769590..3618571 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1 copy number loss See cases [RCV000050642] Chr1:844347..5682587 [GRCh38]
Chr1:779727..5742647 [GRCh37]
Chr1:769590..5665234 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1 copy number loss See cases [RCV000050647] Chr1:844347..3319395 [GRCh38]
Chr1:779727..3235959 [GRCh37]
Chr1:769590..3225819 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000050752] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1 copy number loss See cases [RCV000051143] Chr1:844347..6477436 [GRCh38]
Chr1:779727..6537496 [GRCh37]
Chr1:769590..6460083 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3 copy number gain See cases [RCV000051779] Chr1:792758..5006311 [GRCh38]
Chr1:728138..5066371 [GRCh37]
Chr1:718001..4966231 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3 copy number gain See cases [RCV000051780] Chr1:826553..4719105 [GRCh38]
Chr1:761933..4779165 [GRCh37]
Chr1:751796..4679025 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:832679-1254039)x3 copy number gain See cases [RCV000051781] Chr1:832679..1254039 [GRCh38]
Chr1:768059..1189419 [GRCh37]
Chr1:757922..1179282 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]|See cases [RCV000051782] Chr1:844347..6231924 [GRCh38]
Chr1:779727..6291984 [GRCh37]
Chr1:769590..6214571 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1 copy number loss See cases [RCV000052043] Chr1:844347..2131805 [GRCh38]
Chr1:779727..2063244 [GRCh37]
Chr1:769590..2053104 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1 copy number loss See cases [RCV000052044] Chr1:845437..2523513 [GRCh38]
Chr1:780817..2454952 [GRCh37]
Chr1:770680..2444812 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 copy number loss See cases [RCV000052045] Chr1:859215..8747647 [GRCh38]
Chr1:794595..8807706 [GRCh37]
Chr1:784458..8730293 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1 copy number loss See cases [RCV000052063] Chr1:870177..4426613 [GRCh38]
Chr1:805557..4486673 [GRCh37]
Chr1:795420..4386533 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1 copy number loss See cases [RCV000052064] Chr1:872305..2047715 [GRCh38]
Chr1:807685..1979154 [GRCh37]
Chr1:797548..1969014 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1 copy number loss See cases [RCV000052065] Chr1:872305..3054463 [GRCh38]
Chr1:807685..2971027 [GRCh37]
Chr1:797548..2960887 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1 copy number loss See cases [RCV000052066] Chr1:872305..4133409 [GRCh38]
Chr1:807685..4193469 [GRCh37]
Chr1:797548..4093329 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3 copy number gain See cases [RCV000052067] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 copy number loss See cases [RCV000051993] Chr1:629025..8537745 [GRCh38]
Chr1:564405..8597804 [GRCh37]
Chr1:554268..8520391 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1 copy number loss See cases [RCV000052068] Chr1:872305..2642603 [GRCh38]
Chr1:807685..2574042 [GRCh37]
Chr1:797548..2563902 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]|See cases [RCV000052069] Chr1:1084373..3367776 [GRCh38]
Chr1:1019753..3284340 [GRCh37]
Chr1:1009616..3274200 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1 copy number loss See cases [RCV000051994] Chr1:629044..3346226 [GRCh38]
Chr1:564424..3262790 [GRCh37]
Chr1:554287..3252650 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1 copy number loss See cases [RCV000051995] Chr1:629044..7008678 [GRCh38]
Chr1:564424..7068738 [GRCh37]
Chr1:554287..6991325 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1 copy number loss See cases [RCV000051996] Chr1:821713..4155674 [GRCh38]
Chr1:757093..4215734 [GRCh37]
Chr1:746956..4115594 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1 copy number loss See cases [RCV000052014] Chr1:844147..5970026 [GRCh38]
Chr1:779527..6030086 [GRCh37]
Chr1:769390..5952673 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1 copy number loss See cases [RCV000052015] Chr1:844147..5827203 [GRCh38]
Chr1:779527..5887263 [GRCh37]
Chr1:769390..5809850 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]|See cases [RCV000052016] Chr1:844147..2963530 [GRCh38]
Chr1:779527..2880095 [GRCh37]
Chr1:769390..2869955 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1 copy number loss See cases [RCV000052017] Chr1:844147..4598532 [GRCh38]
Chr1:779527..4658592 [GRCh37]
Chr1:769390..4558452 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1 copy number loss See cases [RCV000052018] Chr1:844147..5020772 [GRCh38]
Chr1:779527..5080832 [GRCh37]
Chr1:769390..4980692 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]|See cases [RCV000052037] Chr1:844347..5363885 [GRCh38]
Chr1:779727..5423945 [GRCh37]
Chr1:769590..5323805 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]|See cases [RCV000052039] Chr1:844347..5431639 [GRCh38]
Chr1:779727..5491699 [GRCh37]
Chr1:769590..5414286 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1 copy number loss See cases [RCV000052040] Chr1:844347..4665295 [GRCh38]
Chr1:779727..4725355 [GRCh37]
Chr1:769590..4625215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]|See cases [RCV000052041] Chr1:844347..2014739 [GRCh38]
Chr1:779727..1946178 [GRCh37]
Chr1:769590..1936038 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]|See cases [RCV000052042] Chr1:844347..7151129 [GRCh38]
Chr1:779727..7211189 [GRCh37]
Chr1:769590..7133776 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3 copy number gain See cases [RCV000133658] Chr1:911300..3614487 [GRCh38]
Chr1:846680..3531051 [GRCh37]
Chr1:836543..3520911 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1 copy number loss See cases [RCV000134145] Chr1:1013081..1722599 [GRCh38]
Chr1:948461..1654038 [GRCh37]
Chr1:938324..1643898 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3 copy number gain See cases [RCV000134750] Chr1:844353..5827192 [GRCh38]
Chr1:779733..5887252 [GRCh37]
Chr1:769596..5809839 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1 copy number loss See cases [RCV000134211] Chr1:1118636..4179080 [GRCh38]
Chr1:1054016..4239140 [GRCh37]
Chr1:1043879..4139000 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1 copy number loss See cases [RCV000134747] Chr1:844353..3487877 [GRCh38]
Chr1:779733..3404441 [GRCh37]
Chr1:769596..3394301 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1 copy number loss See cases [RCV000134137] Chr1:844347..4398122 [GRCh38]
Chr1:779727..4458182 [GRCh37]
Chr1:769590..4358042 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1 copy number loss See cases [RCV000133943] Chr1:844347..6916587 [GRCh38]
Chr1:779727..6976647 [GRCh37]
Chr1:769590..6899234 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1 copy number loss See cases [RCV000134055] Chr1:844353..2420916 [GRCh38]
Chr1:779733..2352355 [GRCh37]
Chr1:769596..2342215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4 copy number gain See cases [RCV000134939] Chr1:932163..1792271 [GRCh38]
Chr1:867543..1723710 [GRCh37]
Chr1:857406..1713570 [NCBI36]
Chr1:1p36.33		 likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1 copy number loss See cases [RCV000136554] Chr1:844347..8171914 [GRCh38]
Chr1:779727..8231974 [GRCh37]
Chr1:769590..8154561 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1 copy number loss See cases [RCV000136715] Chr1:874379..4973261 [GRCh38]
Chr1:809759..5033321 [GRCh37]
Chr1:799622..4933181 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.33(chr1:821713-1223352)x1 copy number loss See cases [RCV000137560] Chr1:821713..1223352 [GRCh38]
Chr1:757093..1158732 [GRCh37]
Chr1:746956..1148595 [NCBI36]
Chr1:1p36.33		 uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1 copy number loss See cases [RCV000137380] Chr1:1022094..4665295 [GRCh38]
Chr1:957474..4725355 [GRCh37]
Chr1:947337..4625215 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1 copy number loss See cases [RCV000138225] Chr1:821713..3569891 [GRCh38]
Chr1:757093..3486455 [GRCh37]
Chr1:746956..3476315 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3 copy number gain See cases [RCV000138165] Chr1:821713..3928354 [GRCh38]
Chr1:757093..3823583 [GRCh37]
Chr1:746956..3834778 [NCBI36]
Chr1:1p36.33-36.32		 likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1 copy number loss See cases [RCV000137890] Chr1:821713..2463016 [GRCh38]
Chr1:757093..2394455 [GRCh37]
Chr1:746956..2384315 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4 copy number gain See cases [RCV000137894] Chr1:821713..2463016 [GRCh38]
Chr1:757093..2394455 [GRCh37]
Chr1:746956..2384315 [NCBI36]
Chr1:1p36.33-36.32		 uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1 copy number loss See cases [RCV000137978] Chr1:821713..5239643 [GRCh38]
Chr1:757093..5299703 [GRCh37]
Chr1:746956..5199563 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1 copy number loss See cases [RCV000138704] Chr1:844353..3153909 [GRCh38]
Chr1:779733..3070473 [GRCh37]
Chr1:769596..3060333 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1 copy number loss See cases [RCV000138883] Chr1:1072906..2806838 [GRCh38]
Chr1:1008286..2723403 [GRCh37]
Chr1:998149..2713263 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1 copy number loss See cases [RCV000139404] Chr1:844353..6477474 [GRCh38]
Chr1:779733..6537534 [GRCh37]
Chr1:769596..6460121 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1 copy number loss See cases [RCV000138896] Chr1:821713..7000838 [GRCh38]
Chr1:757093..7060898 [GRCh37]
Chr1:746956..6983485 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1 copy number loss See cases [RCV000140164] Chr1:778698..4898439 [GRCh38]
Chr1:714078..4958499 [GRCh37]
Chr1:703941..4858359 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:1143156-1223303)x1 copy number loss See cases [RCV000140046] Chr1:1143156..1223303 [GRCh38]
Chr1:1078536..1158683 [GRCh37]
Chr1:1068399..1148546 [NCBI36]
Chr1:1p36.33		 benign
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1 copy number loss See cases [RCV000139876] Chr1:821713..2554047 [GRCh38]
Chr1:757093..2485486 [GRCh37]
Chr1:746956..2479281 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1 copy number loss See cases [RCV000139780] Chr1:821713..3438208 [GRCh38]
Chr1:757093..3354772 [GRCh37]
Chr1:746956..3344632 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1 copy number loss See cases [RCV000141208] Chr1:821713..2636393 [GRCh38]
Chr1:757093..2567832 [GRCh37]
Chr1:746956..2557692 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1 copy number loss See cases [RCV000141318] Chr1:821713..5099990 [GRCh38]
Chr1:757093..5160050 [GRCh37]
Chr1:746956..5059910 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1 copy number loss See cases [RCV000141227] Chr1:821713..2976123 [GRCh38]
Chr1:757093..2892687 [GRCh37]
Chr1:746956..2882547 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1 copy number loss See cases [RCV000141356] Chr1:821713..4225085 [GRCh38]
Chr1:757093..4285145 [GRCh37]
Chr1:746956..4185005 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1 copy number loss See cases [RCV000140894] Chr1:914086..3305463 [GRCh38]
Chr1:849466..3222027 [GRCh37]
Chr1:839329..3211887 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1 copy number loss See cases [RCV000140709] Chr1:821713..5480263 [GRCh38]
Chr1:757093..5540323 [GRCh37]
Chr1:746956..5462910 [NCBI36]
Chr1:1p36.33-36.31		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1 copy number loss See cases [RCV000140892] Chr1:914086..2465738 [GRCh38]
Chr1:849466..2397177 [GRCh37]
Chr1:839329..2387037 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 copy number loss See cases [RCV000141970] Chr1:914086..9567122 [GRCh38]
Chr1:849466..9627180 [GRCh37]
Chr1:839329..9549767 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 copy number loss See cases [RCV000141577] Chr1:902111..9556305 [GRCh38]
Chr1:837491..9616363 [GRCh37]
Chr1:827354..9538950 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1 copy number loss See cases [RCV000141668] Chr1:914086..3587042 [GRCh38]
Chr1:849466..3503606 [GRCh37]
Chr1:839329..3493466 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1 copy number loss See cases [RCV000142178] Chr1:914086..1538895 [GRCh38]
Chr1:849466..1474275 [GRCh37]
Chr1:839329..1464138 [NCBI36]
Chr1:1p36.33		 likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1 copy number loss See cases [RCV000142754] Chr1:911300..2963389 [GRCh38]
Chr1:846680..2879954 [GRCh37]
Chr1:836543..2869814 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1 copy number loss See cases [RCV000142651] Chr1:898721..7811306 [GRCh38]
Chr1:834101..7871366 [GRCh37]
Chr1:823964..7793953 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 copy number loss See cases [RCV000142615] Chr1:911300..9329925 [GRCh38]
Chr1:846680..9389984 [GRCh37]
Chr1:836543..9312571 [NCBI36]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1 copy number loss See cases [RCV000142709] Chr1:844347..7870545 [GRCh38]
Chr1:779727..7930605 [GRCh37]
Chr1:769590..7853192 [NCBI36]
Chr1:1p36.33-36.23		 pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1 copy number loss See cases [RCV000143224] Chr1:914086..1613769 [GRCh38]
Chr1:849466..1549149 [GRCh37]
Chr1:839329..1539012 [NCBI36]
Chr1:1p36.33		 pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1 copy number loss See cases [RCV000148161] Chr1:844347..2627474 [GRCh38]
Chr1:779727..2558913 [GRCh37]
Chr1:769590..2548773 [NCBI36]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1 copy number loss See cases [RCV000240189] Chr1:874455..2577794 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1 copy number loss See cases [RCV000240333] Chr1:874455..3177921 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3 copy number gain See cases [RCV000449132] Chr1:849466..3396845 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1 copy number loss See cases [RCV000449148] Chr1:849466..6566086 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1 copy number loss See cases [RCV000449322] Chr1:849466..5318552 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1 copy number loss See cases [RCV000446331] Chr1:849466..9683808 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3 copy number gain See cases [RCV000447000] Chr1:19225..4401691 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1 copy number loss See cases [RCV000446544] Chr1:849466..4099471 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1 copy number loss See cases [RCV000447515] Chr1:564424..3582058 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1 copy number loss See cases [RCV000448903] Chr1:849466..5707515 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1 copy number loss See cases [RCV000448061] Chr1:849466..7300178 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1 copy number loss See cases [RCV000512052] Chr1:849466..6374209 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1 copy number loss See cases [RCV000510494] Chr1:849466..6505278 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1 copy number loss See cases [RCV000510640] Chr1:849466..4048535 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3 copy number gain See cases [RCV000510511] Chr1:849466..1663402 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1 copy number loss See cases [RCV000511408] Chr1:849466..2607016 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1 copy number loss See cases [RCV000512029] Chr1:849466..2330338 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1 copy number loss See cases [RCV000511381] Chr1:849466..7637060 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1 copy number loss See cases [RCV000511834] Chr1:849466..2748837 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1 copy number loss See cases [RCV000510858] Chr1:849466..2554275 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140) copy number loss Primary dilated cardiomyopathy [RCV000626523] Chr1:834101..6076140 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
NC_000001.11:g.(?_1020153)_(1313808_?)del deletion Congenital myasthenic syndrome 8 [RCV000651427] Chr1:1020153..1313808 [GRCh38]
Chr1:955533..1249188 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1 copy number loss See cases [RCV000512568] Chr1:849466..8901938 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1 copy number loss See cases [RCV000512243] Chr1:849466..5352492 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1314437)x1 copy number loss not provided [RCV000684531] Chr1:849466..1314437 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1 copy number loss not provided [RCV000684532] Chr1:849466..2240632 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1 copy number loss not provided [RCV000684533] Chr1:849466..4262915 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1 copy number loss not provided [RCV000684534] Chr1:849466..7305595 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33(chr1:82154-1226512)x3 copy number gain not provided [RCV000736300] Chr1:82154..1226512 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1 copy number loss not provided [RCV000736304] Chr1:82154..7936272 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1 copy number loss not provided [RCV000736294] Chr1:47851..6659872 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33(chr1:47851-1165310)x1 copy number loss not provided [RCV000736293] Chr1:47851..1165310 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:724519-1165310)x1 copy number loss not provided [RCV000736311] Chr1:724519..1165310 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33(chr1:82154-1289835)x3 copy number gain not provided [RCV000736301] Chr1:82154..1289835 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33(chr1:82154-1289863)x3 copy number gain not provided [RCV000736302] Chr1:82154..1289863 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1 copy number loss not provided [RCV000736303] Chr1:82154..3340855 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:727037-1366830)x1 copy number loss not provided [RCV000748800] Chr1:727037..1366830 [GRCh37]
Chr1:1p36.33		 likely benign
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1 copy number loss not provided [RCV000748814] Chr1:977062..5179574 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:1040026-1156131)x1 copy number loss not provided [RCV000748817] Chr1:1040026..1156131 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33(chr1:1060174-1196471)x3 copy number gain not provided [RCV000748818] Chr1:1060174..1196471 [GRCh37]
Chr1:1p36.33		 benign
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1 copy number loss See cases [RCV000790584] Chr1:82154..7637060 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3 copy number gain See cases [RCV001007411] Chr1:82154..3349513 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949) copy number loss Chromosome 1p36 deletion syndrome [RCV000767775] Chr1:568708..3662949 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:568708-1283779) copy number loss not provided [RCV000767825] Chr1:568708..1283779 [GRCh37]
Chr1:1p36.33		 likely pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363) copy number loss Chromosome 1p36 deletion syndrome [RCV000767774] Chr1:823964..6828363 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832) copy number loss Chromosome 1p36 deletion syndrome [RCV000767776] Chr1:568708..2567832 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del deletion Shprintzen-Goldberg syndrome [RCV000816642] Chr1:955543..2957600 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33(chr1:854277-1165197)x1 copy number loss not provided [RCV000848570] Chr1:854277..1165197 [GRCh37]
Chr1:1p36.33		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787413] Chr1:554375..9779842 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33(chr1:958859-1211292)x3 copy number gain not provided [RCV000847774] Chr1:958859..1211292 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1 copy number loss not provided [RCV003312163] Chr1:536777..6012896 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3 copy number gain not provided [RCV000846682] Chr1:727731..2107858 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1 copy number loss not provided [RCV001005060] Chr1:849466..4829059 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1 copy number loss not provided [RCV001005056] Chr1:849466..1649932 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33(chr1:849467-1174365)x3 copy number gain not provided [RCV002473433] Chr1:849467..1174365 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1 copy number loss not provided [RCV001005058] Chr1:849466..6002955 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1 copy number loss not provided [RCV001005059] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
NC_000001.11:g.(?_1013554)_(1313808_?)del deletion Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001032824] Chr1:948934..1249188 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1 copy number loss not provided [RCV001005057] Chr1:849466..7786545 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
NC_000001.10:g.(?_955543)_(2238214_?)del deletion Congenital myasthenic syndrome 8 [RCV001033252] Chr1:955543..2238214 [GRCh37]
Chr1:1p36.33		 pathogenic
NC_000001.10:g.(?_955543)_(3350385_?)del deletion Left ventricular noncompaction 8 [RCV001033604] Chr1:955543..3350385 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686) copy number loss Harel-Yoon syndrome [RCV001254115] Chr1:762080..7309686 [GRCh37]
Chr1:1p36.33-36.23		 likely pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1 copy number loss See cases [RCV002285055] Chr1:849466..2518608 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1 copy number loss not provided [RCV001260110] Chr1:849466..1806659 [GRCh37]
Chr1:1p36.33		 likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1 copy number loss not provided [RCV001260111] Chr1:849466..2033256 [GRCh37]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1 copy number loss not provided [RCV001260116] Chr1:1..5592835 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1 copy number loss not provided [RCV001260112] Chr1:849466..1976788 [GRCh37]
Chr1:1p36.33		 pathogenic
NC_000001.10:g.(?_948954)_(1284445_?)dup duplication Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001305754]|not provided [RCV001308818] Chr1:948954..1284445 [GRCh37]
Chr1:1p36.33		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1 copy number loss not provided [RCV001270634] Chr1:753462..1717335 [GRCh37]
Chr1:1p36.33		 pathogenic
Single allele deletion Chromosome 1p36 deletion syndrome [RCV002247723] Chr1:817861..1836133 [GRCh38]
Chr1:1p36.33		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1 copy number loss not provided [RCV001795535] Chr1:753552..4034574 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1 copy number loss not provided [RCV001829223] Chr1:849466..2621542 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13		 pathogenic
NC_000001.10:g.(?_989123)_(3160711_?)del deletion Left ventricular noncompaction 8 [RCV002004579] Chr1:989123..3160711 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NC_000001.10:g.(?_949364)_(1198766_?)del deletion Congenital myasthenic syndrome 8 [RCV001956550] Chr1:949364..1198766 [GRCh37]
Chr1:1p36.33		 pathogenic
NC_000001.10:g.(?_955553)_(3350375_?)del deletion Left ventricular noncompaction 8 [RCV001955735] Chr1:955553..3350375 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del deletion Combined immunodeficiency due to OX40 deficiency [RCV001919158]|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]|Joubert syndrome 25 [RCV001923368]|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]|not provided [RCV001943250] Chr1:861322..3768971 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000001.10:g.(?_861322)_(2161194_?)del deletion Idiopathic generalized epilepsy [RCV002050272] Chr1:861322..2161194 [GRCh37]
Chr1:1p36.33		 uncertain significance
NC_000001.10:g.(?_980719)_(1168648_?)dup duplication Congenital myasthenic syndrome 8 [RCV003113991] Chr1:980719..1168648 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006) copy number loss Chromosome 1p36 deletion syndrome [RCV002280716] Chr1:849466..4183006 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566) copy number loss Chromosome 1p36 deletion syndrome [RCV002280715] Chr1:849466..5625566 [GRCh37]
Chr1:1p36.33-36.31		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV002279763] Chr1:834101..7930605 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1 copy number loss not provided [RCV002472529] Chr1:849467..2972435 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1 copy number loss Chromosome 1p36 deletion syndrome [RCV003226604] Chr1:1..2580976 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1 copy number loss not provided [RCV003482983] Chr1:849467..3500877 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
GRCh37/hg19 1p36.33(chr1:849467-1207958)x3 copy number gain not provided [RCV003483998] Chr1:849467..1207958 [GRCh37]
Chr1:1p36.33		 uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3 copy number gain not provided [RCV003483999] Chr1:1089596..2607016 [GRCh37]
Chr1:1p36.33-36.32		 uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1 copy number loss not provided [RCV003482961] Chr1:849467..9627901 [GRCh37]
Chr1:1p36.33-36.22		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1 copy number loss not specified [RCV003986962] Chr1:849466..8966102 [GRCh37]
Chr1:1p36.33-36.23		 pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3 copy number gain not specified [RCV003986984] Chr1:849466..4529103 [GRCh37]
Chr1:1p36.33-36.32		 pathogenic
miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
DLX5hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19454767
BAP1hsa-miR-200a-3pMirtarbaseexternal_infoMicroarrayFunctional MTI (Weak)17875710
BAP1hsa-miR-200a-3pMirtarbaseexternal_infoReporter assayFunctional MTI20005803
G3BP2hsa-miR-200a-3pMirtarbaseexternal_infoMicroarray//Northern blotFunctional MTI (Weak)16331254
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI18411277
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI19703993
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI18381893
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI18376396
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI19854497
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI18829540
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infointrarenal expressionFunctional MTI (Weak)19910931
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blot//Functional MTI19931509
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21049046
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21529905
CTNNB1hsa-miR-200a-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19703993
MAPK14hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Western bloFunctional MTI22101765
ZEB1hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Reporter assayNon-Functional MTI18411277
ZEB1hsa-miR-200a-3pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blot//Functional MTI18381893
ZEB2hsa-miR-200a-3pMirtarbaseexternal_infoReporter assayFunctional MTI18381893
ZEB1hsa-miR-200a-3pMirtarbaseexternal_infoimmunohistochemistry//Microarray//qRT-PCR//WesternFunctional MTI19167416
WASF3hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19801681
TFRChsa-miR-200a-3pMirtarbaseexternal_infoNorthern blotFunctional MTI (Weak)19135902
ZFPM2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blot//Reporter Functional MTI20005803
GDAP1hsa-miR-200a-3pMirtarbaseexternal_infoImmunofluorescence//In situ hybridization//LuciferFunctional MTI20827281
CCNE2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22183793
KEAP1hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI21914820
SMAD2hsa-miR-200a-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22020340
YAP1hsa-miR-200a-3pMirtarbaseexternal_infoWestern blotFunctional MTI23340296
ZEB1hsa-miR-200a-3pTarbaseexternal_infoReporter GenePOSITIVE
ZEB1hsa-miR-200a-3pTarbaseexternal_infoReporter GeneNEGATIVE
ZEB2hsa-miR-200a-3pTarbaseexternal_infoqPCRPOSITIVE
ZEB2hsa-miR-200a-3pTarbaseexternal_infoWesternblitPOSITIVE
ZEB2hsa-miR-200a-3pMirecordsexternal_infoNANA18376396
ZFPM2hsa-miR-200a-3pMirecordsexternal_infoNANA20005803
CTNNBIP1hsa-miR-200a-3pMirecordsexternal_info{changed}NA19703993
ZEB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA23436804
YAP1hsa-miR-200a-3pOncomiRDBexternal_infoNANA23340296
GNA13hsa-miR-200a-3pOncomiRDBexternal_infoNANA23329838
SNAI2hsa-miR-200a-3pOncomiRDBexternal_infoNANA22370643
CTNNB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA22211245
CCNE2hsa-miR-200a-3pOncomiRDBexternal_infoNANA22183793
MAPK14hsa-miR-200a-3pOncomiRDBexternal_infoNANA22101765
ZEB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA22020340
KEAP1hsa-miR-200a-3pOncomiRDBexternal_infoNANA21926171
HDAC4hsa-miR-200a-3pOncomiRDBexternal_infoNANA21837748
SEC23Ahsa-miR-200a-3pOncomiRDBexternal_infoNANA21822286
SIRT1hsa-miR-200a-3pOncomiRDBexternal_infoNANA21596753
ZEB2hsa-miR-200a-3pOncomiRDBexternal_infoNANA21529905
ZEB2hsa-miR-200a-3pMirecordsexternal_info{changed}NA20037478
JAG1hsa-miR-200a-3pOncomiRDBexternal_infoNANA21224848
JAG1hsa-miR-200a-3pOncomiRDBexternal_infoNANA21224847
FLT1hsa-miR-200a-3pOncomiRDBexternal_infoNANA21115742
ZEB2hsa-miR-200a-3pOncomiRDBexternal_infoNANA20826811
NOTCH1hsa-miR-200a-3pOncomiRDBexternal_infoNANA20805998
ZEB2hsa-miR-200a-3pOncomiRDBexternal_infoNANA19931509
ZEB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA19854497
ZEB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA19839049
WASF3hsa-miR-200a-3pOncomiRDBexternal_infoNANA19801681
CTNNB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA19703993
ZEB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA18381893
ZEB1hsa-miR-200a-3pOncomiRDBexternal_infoNANA18376396

Predicted Targets
Summary Value
Count of predictions:21876
Count of gene targets:8302
Count of transcripts:16035
Interacting mature miRNAs:hsa-miR-200a-3p, hsa-miR-200a-5p
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 85 7 3 2 5 3 1 12 87 51 1 1
Low 598 59 538 120 133 80 705 52 325 202 467 510 47 57 317 1
Below cutoff 202 188 129 67 82 29 357 202 338 44 121 144 38 99 224

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000384875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11,167,863 - 1,167,952 (+)Ensembl
RefSeq Acc Id: NR_029834
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811,167,863 - 1,167,952 (+)NCBI
GRCh3711,103,243 - 1,103,332 (+)ENTREZGENE
HuRef1374,624 - 374,713 (+)ENTREZGENE
CHM1_111,090,213 - 1,090,302 (+)NCBI
T2T-CHM13v2.01596,460 - 596,549 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31578 AgrOrtholog
COSMIC MIR200A COSMIC
Ensembl Genes ENSG00000207607 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000384875 ENTREZGENE
GTEx ENSG00000207607 GTEx
HGNC ID HGNC:31578 ENTREZGENE
Human Proteome Map MIR200A Human Proteome Map
miRBase MI0000737 ENTREZGENE
NCBI Gene 406983 ENTREZGENE
OMIM 612090 OMIM
PharmGKB PA164722575 PharmGKB
RNAcentral URS000008DA94 RNACentral
  URS000023B77E RNACentral
  URS000075A884 RNACentral