DIS3 (DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease) - Rat Genome Database

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Gene: DIS3 (DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease) Homo sapiens
Analyze
Symbol: DIS3
Name: DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
RGD ID: 1312206
HGNC Page HGNC:20604
Description: Enables 3'-5'-RNA exonuclease activity; endonuclease activity; and guanyl-nucleotide exchange factor activity. Involved in CUT catabolic process; RNA processing; and rRNA catabolic process. Located in cytosol and nucleoplasm. Part of nuclear exosome (RNase complex).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2810028N01Rik; bA555G22.1; DIS3 exosome endoribonuclease and 3'-5' exoribonuclease; DIS3 mitotic control homolog; dis3p; DKFZp667L1817; EXOSC11; exosome complex exonuclease RRP44; exosome component 11; FLJ10484; KIAA1008; MGC33035; mitotic control protein dis3 homolog; protein DIS3 homolog; ribosomal RNA-processing protein 44; RP11-342J4.3; RRP44
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
GRCh381372,752,169 - 72,781,900 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1372,752,169 - 72,782,096 (-)EnsemblGRCh38hg38GRCh38
GRCh371373,326,307 - 73,356,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361372,227,541 - 72,254,007 (-)NCBINCBI36Build 36hg18NCBI36
Build 341372,227,541 - 72,254,007NCBI
Celera1354,228,002 - 54,254,806 (-)NCBICelera
Cytogenetic Map13q21.33NCBI
HuRef1354,026,857 - 54,053,683 (-)NCBIHuRef
CHM1_11373,297,230 - 73,324,057 (-)NCBICHM1_1
T2T-CHM13v2.01371,973,643 - 72,003,383 (-)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

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. An overview of pre-ribosomal RNA processing in eukaryotes. Henras AK, etal., Wiley Interdiscip Rev RNA. 2015 Mar-Apr;6(2):225-42. doi: 10.1002/wrna.1269. Epub 2014 Oct 27.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:9562621   PMID:10231032   PMID:11110791   PMID:11719186   PMID:11812149   PMID:11935316   PMID:12168954   PMID:12419256   PMID:12429849   PMID:12477932  
PMID:12788944   PMID:14702039   PMID:15057823   PMID:15231747   PMID:15489334   PMID:15635413   PMID:16344560   PMID:17174896   PMID:19056938   PMID:19615732   PMID:19946888   PMID:20368444  
PMID:20531386   PMID:20531389   PMID:21145461   PMID:21255825   PMID:21873635   PMID:22586326   PMID:22863883   PMID:22939629   PMID:23756462   PMID:24150935   PMID:24478024   PMID:24797263  
PMID:25220460   PMID:25437307   PMID:25521164   PMID:25921289   PMID:25925570   PMID:26186194   PMID:26193331   PMID:26288249   PMID:26305418   PMID:26344197   PMID:26496610   PMID:26508657  
PMID:26972000   PMID:26979993   PMID:27025967   PMID:27173435   PMID:27684187   PMID:28172817   PMID:28302793   PMID:28378594   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28675297  
PMID:28883622   PMID:29053956   PMID:29378950   PMID:29467282   PMID:29564676   PMID:29656893   PMID:29802118   PMID:30021884   PMID:30047866   PMID:30196744   PMID:30266864   PMID:30463901  
PMID:30619736   PMID:30833792   PMID:30840897   PMID:30884312   PMID:30948266   PMID:30967618   PMID:31091453   PMID:31300519   PMID:31428776   PMID:31871319   PMID:31980649   PMID:31988198  
PMID:32239614   PMID:32344865   PMID:32416067   PMID:32513696   PMID:32614325   PMID:32687490   PMID:32807901   PMID:32838362   PMID:32867711   PMID:32941674   PMID:32971831   PMID:33187986  
PMID:33239621   PMID:33567341   PMID:33658012   PMID:33742100   PMID:33845483   PMID:33916271   PMID:33951891   PMID:33961781   PMID:34059908   PMID:34373451   PMID:34728620   PMID:34795231  
PMID:35032548   PMID:35232816   PMID:35256949   PMID:35384245   PMID:35394705   PMID:35509820   PMID:35563538   PMID:35687106   PMID:35831314   PMID:35902094   PMID:35944360   PMID:35973513  
PMID:36057605   PMID:36168627   PMID:36215168   PMID:36215697   PMID:36261009   PMID:36424410   PMID:36538041   PMID:36543142   PMID:36634849   PMID:36835493   PMID:36869713   PMID:37167062  
PMID:37223481   PMID:37267103   PMID:37314216   PMID:37317656   PMID:37439377   PMID:37827155   PMID:38113892   PMID:38580884   PMID:38777146   PMID:39147351  


Genomics

Comparative Map Data
DIS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381372,752,169 - 72,781,900 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1372,752,169 - 72,782,096 (-)EnsemblGRCh38hg38GRCh38
GRCh371373,326,307 - 73,356,038 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361372,227,541 - 72,254,007 (-)NCBINCBI36Build 36hg18NCBI36
Build 341372,227,541 - 72,254,007NCBI
Celera1354,228,002 - 54,254,806 (-)NCBICelera
Cytogenetic Map13q21.33NCBI
HuRef1354,026,857 - 54,053,683 (-)NCBIHuRef
CHM1_11373,297,230 - 73,324,057 (-)NCBICHM1_1
T2T-CHM13v2.01371,973,643 - 72,003,383 (-)NCBIT2T-CHM13v2.0
Dis3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391499,314,070 - 99,337,217 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1499,312,642 - 99,337,206 (-)EnsemblGRCm39 Ensembl
GRCm381499,076,634 - 99,099,780 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1499,075,206 - 99,099,770 (-)EnsemblGRCm38mm10GRCm38
MGSCv371499,475,853 - 99,498,989 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361497,960,404 - 97,982,874 (-)NCBIMGSCv36mm8
Celera1497,752,393 - 97,775,528 (-)NCBICelera
Cytogenetic Map14E2.2NCBI
cM Map1449.25NCBI
Dis3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81582,231,922 - 82,258,299 (-)NCBIGRCr8
mRatBN7.21575,820,040 - 75,850,450 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1575,823,436 - 75,850,642 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1579,808,848 - 79,835,406 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01580,885,466 - 80,912,024 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01577,833,009 - 77,859,568 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01583,466,330 - 83,494,107 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1583,466,428 - 83,494,423 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01586,975,865 - 87,005,393 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41582,855,389 - 82,881,767 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11582,871,188 - 82,897,665 (-)NCBI
Celera1575,064,436 - 75,090,827 (-)NCBICelera
Cytogenetic Map15q21NCBI
Dis3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540433,897,237 - 33,924,069 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540433,897,681 - 33,924,069 (+)NCBIChiLan1.0ChiLan1.0
DIS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21474,335,657 - 74,362,392 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11372,931,207 - 72,953,629 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01353,982,914 - 54,011,076 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11372,760,610 - 72,787,325 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1372,760,610 - 72,787,325 (-)Ensemblpanpan1.1panPan2
DIS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12226,908,502 - 26,935,368 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2226,909,409 - 26,935,033 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2226,761,433 - 26,791,766 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02227,236,965 - 27,267,364 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2227,236,861 - 27,266,597 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12226,899,065 - 26,929,340 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02226,938,509 - 26,968,828 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02227,009,909 - 27,040,201 (-)NCBIUU_Cfam_GSD_1.0
Dis3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945132,665,787 - 132,687,976 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365118,082,406 - 8,108,233 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365118,082,909 - 8,105,203 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DIS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1145,044,508 - 45,075,963 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11145,046,040 - 45,075,973 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21149,594,714 - 49,614,004 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DIS3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1351,890,033 - 51,916,628 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl351,888,707 - 51,916,643 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660467,984,139 - 8,013,994 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dis3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475127,760,776 - 27,785,613 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475127,760,665 - 27,786,403 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DIS3
60 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34
pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|See cases [RCV000053768] Chr13:71509212..82146085 [GRCh38]
Chr13:72083344..82720220 [GRCh37]
Chr13:70981345..81618221 [NCBI36]
Chr13:13q21.33-31.1
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1 copy number loss See cases [RCV000134874] Chr13:66320998..87855429 [GRCh38]
Chr13:66895130..88507684 [GRCh37]
Chr13:65793131..87305685 [NCBI36]
Chr13:13q21.32-31.2
pathogenic
GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1 copy number loss See cases [RCV000134951] Chr13:60536344..84553188 [GRCh38]
Chr13:61110478..85127323 [GRCh37]
Chr13:60008479..84025324 [NCBI36]
Chr13:13q21.2-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1
pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1 copy number loss See cases [RCV000138575] Chr13:72681540..79638468 [GRCh38]
Chr13:73255678..80212603 [GRCh37]
Chr13:72153679..79110604 [NCBI36]
Chr13:13q21.33-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q21.31-22.1(chr13:64065900-73693578)x3 copy number gain See cases [RCV000139020] Chr13:64065900..73693578 [GRCh38]
Chr13:64640033..74267715 [GRCh37]
Chr13:63538034..73165716 [NCBI36]
Chr13:13q21.31-22.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1 copy number loss See cases [RCV000141460] Chr13:63713365..79638415 [GRCh38]
Chr13:64287498..80212550 [GRCh37]
Chr13:63185499..79110551 [NCBI36]
Chr13:13q21.31-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1 copy number loss See cases [RCV000240205] Chr13:72013791..88021559 [GRCh37]
Chr13:13q21.33-31.2
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653)x1 copy number loss See cases [RCV000446609] Chr13:69200998..75160653 [GRCh37]
Chr13:13q21.33-22.1
uncertain significance
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34
pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1 copy number loss See cases [RCV000448053] Chr13:72174742..82221361 [GRCh37]
Chr13:13q21.33-31.1
pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1 copy number loss See cases [RCV000448229] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_014953.5(DIS3):c.731G>C (p.Gly244Ala) single nucleotide variant not specified [RCV004318074] Chr13:72776016 [GRCh38]
Chr13:73350154 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.137C>A (p.Pro46Gln) single nucleotide variant not specified [RCV004299682] Chr13:72781696 [GRCh38]
Chr13:73355834 [GRCh37]
Chr13:13q21.33
uncertain significance
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1
pathogenic
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2
pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
NM_014953.5(DIS3):c.1806G>A (p.Met602Ile) single nucleotide variant Perlman syndrome [RCV000714768] Chr13:72768862 [GRCh38]
Chr13:73343000 [GRCh37]
Chr13:13q21.33
uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 copy number loss not provided [RCV000750731] Chr13:57058434..94684615 [GRCh37]
Chr13:13q21.1-31.3
pathogenic
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe) single nucleotide variant Multiple myeloma [RCV000984121] Chr13:72761930 [GRCh38]
Chr13:73336068 [GRCh37]
Chr13:13q21.33
likely pathogenic
GRCh37/hg19 13q21.33-22.1(chr13:73277686-73565300)x3 copy number gain not provided [RCV000849324] Chr13:73277686..73565300 [GRCh37]
Chr13:13q21.33-22.1
uncertain significance
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3
pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1 copy number loss not provided [RCV001006577] Chr13:71502357..86571730 [GRCh37]
Chr13:13q21.33-31.1
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.33-22.1(chr13:73277686-73561615)x3 copy number gain not provided [RCV000845639] Chr13:73277686..73561615 [GRCh37]
Chr13:13q21.33-22.1
uncertain significance
GRCh37/hg19 13q22.1(chr13:73348945-73449975)x1 copy number loss not provided [RCV001006578] Chr13:73348945..73449975 [GRCh37]
Chr13:13q22.1
uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34
pathogenic
GRCh37/hg19 13q21.1-22.1(chr13:58432035-73649333)x3 copy number gain See cases [RCV001007405] Chr13:58432035..73649333 [GRCh37]
Chr13:13q21.1-22.1
uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34
pathogenic
NM_006346.4(PIBF1):c.151A>G (p.Ile51Val) single nucleotide variant not provided [RCV000901180]|not specified [RCV001818749] Chr13:72783620 [GRCh38]
Chr13:73357758 [GRCh37]
Chr13:13q21.33
benign|likely benign
NM_014953.5(DIS3):c.1202C>T (p.Ala401Val) single nucleotide variant not provided [RCV004707738]|not specified [RCV001820481] Chr13:72773721 [GRCh38]
Chr13:73347859 [GRCh37]
Chr13:13q21.33
benign
NM_014953.5(DIS3):c.1760C>T (p.Ser587Phe) single nucleotide variant not specified [RCV001822554] Chr13:72768908 [GRCh38]
Chr13:73343046 [GRCh37]
Chr13:13q21.33
likely benign
NM_014953.5(DIS3):c.1503+7A>G single nucleotide variant not specified [RCV001822575] Chr13:72772152 [GRCh38]
Chr13:73346290 [GRCh37]
Chr13:13q21.33
benign
NM_006346.4(PIBF1):c.218T>C (p.Met73Thr) single nucleotide variant PIBF1-related disorder [RCV003972951]|not provided [RCV000973714]|not specified [RCV001819135] Chr13:72783687 [GRCh38]
Chr13:73357825 [GRCh37]
Chr13:13q21.33
benign
NM_014953.5(DIS3):c.2875T>C (p.Ter959Gln) single nucleotide variant not provided [RCV004704654]|not specified [RCV001819221] Chr13:72759797 [GRCh38]
Chr13:73333935 [GRCh37]
Chr13:13q21.33
likely benign
NM_014953.5(DIS3):c.1394A>G (p.Lys465Arg) single nucleotide variant DIS3-related disorder [RCV003976226]|not specified [RCV001820651] Chr13:72772268 [GRCh38]
Chr13:73346406 [GRCh37]
Chr13:13q21.33
benign|likely benign
NM_014953.5(DIS3):c.1552G>A (p.Ala518Thr) single nucleotide variant not provided [RCV004692759]|not specified [RCV001822566] Chr13:72771848 [GRCh38]
Chr13:73345986 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2073T>C (p.His691=) single nucleotide variant not specified [RCV001822612] Chr13:72763505 [GRCh38]
Chr13:73337643 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.228+3G>A single nucleotide variant not specified [RCV001822643] Chr13:72781602 [GRCh38]
Chr13:73355740 [GRCh37]
Chr13:13q21.33
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092) copy number loss not specified [RCV002053064] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1
pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3
pathogenic
GRCh37/hg19 13q21.33-22.1(chr13:69200998-75160653) copy number loss not specified [RCV002053066] Chr13:69200998..75160653 [GRCh37]
Chr13:13q21.33-22.1
uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1
pathogenic
GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1 copy number loss not provided [RCV001834426] Chr13:59574760..89410027 [GRCh37]
Chr13:13q21.1-31.2
pathogenic
NC_000013.10:g.(?_73333933)_(73590057_?)del deletion not provided [RCV003109498] Chr13:73333933..73590057 [GRCh37]
Chr13:13q22.1
uncertain significance
NC_000013.10:g.(?_73333933)_(73590057_?)dup duplication not provided [RCV003109499] Chr13:73333933..73590057 [GRCh37]
Chr13:13q22.1
uncertain significance
NM_014953.5(DIS3):c.2533A>G (p.Ile845Val) single nucleotide variant not specified [RCV003151506] Chr13:72761500 [GRCh38]
Chr13:73335638 [GRCh37]
Chr13:13q21.33
benign
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34
pathogenic
NM_014953.5(DIS3):c.1151G>T (p.Arg384Leu) single nucleotide variant not specified [RCV004329686] Chr13:72773772 [GRCh38]
Chr13:73347910 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_024808.5(BORA):c.1579G>C (p.Glu527Gln) single nucleotide variant not specified [RCV004169022] Chr13:72753786 [GRCh38]
Chr13:73327924 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_024808.5(BORA):c.1658C>T (p.Pro553Leu) single nucleotide variant not specified [RCV004085995] Chr13:72755194 [GRCh38]
Chr13:73329332 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.14A>G (p.Lys5Arg) single nucleotide variant not specified [RCV004133796] Chr13:72781819 [GRCh38]
Chr13:73355957 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2612G>A (p.Gly871Glu) single nucleotide variant not specified [RCV004219472] Chr13:72761421 [GRCh38]
Chr13:73335559 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1064C>T (p.Pro355Leu) single nucleotide variant not specified [RCV004238797] Chr13:72773983 [GRCh38]
Chr13:73348121 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2236C>T (p.Arg746Cys) single nucleotide variant not specified [RCV004142234] Chr13:72762029 [GRCh38]
Chr13:73336167 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1913G>A (p.Arg638Gln) single nucleotide variant not specified [RCV004110042] Chr13:72766029 [GRCh38]
Chr13:73340167 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.790T>C (p.Trp264Arg) single nucleotide variant not specified [RCV004208024] Chr13:72775957 [GRCh38]
Chr13:73350095 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.739C>T (p.Leu247Phe) single nucleotide variant not specified [RCV004106060] Chr13:72776008 [GRCh38]
Chr13:73350146 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1211G>A (p.Gly404Asp) single nucleotide variant not specified [RCV004153326] Chr13:72773712 [GRCh38]
Chr13:73347850 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.965A>G (p.Lys322Arg) single nucleotide variant not specified [RCV004206770] Chr13:72775233 [GRCh38]
Chr13:73349371 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1204A>G (p.Ile402Val) single nucleotide variant not specified [RCV004126757] Chr13:72773719 [GRCh38]
Chr13:73347857 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2783T>C (p.Val928Ala) single nucleotide variant not specified [RCV004177893] Chr13:72760539 [GRCh38]
Chr13:73334677 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2552A>G (p.Tyr851Cys) single nucleotide variant not specified [RCV004115772] Chr13:72761481 [GRCh38]
Chr13:73335619 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2866C>T (p.Leu956Phe) single nucleotide variant not specified [RCV004231900] Chr13:72759806 [GRCh38]
Chr13:73333944 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.119G>T (p.Gly40Val) single nucleotide variant not specified [RCV004210149] Chr13:72781714 [GRCh38]
Chr13:73355852 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1129G>A (p.Asp377Asn) single nucleotide variant not specified [RCV004146552] Chr13:72773794 [GRCh38]
Chr13:73347932 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.5T>G (p.Leu2Arg) single nucleotide variant not specified [RCV004192606] Chr13:72781828 [GRCh38]
Chr13:73355966 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2699T>C (p.Val900Ala) single nucleotide variant not specified [RCV004094956] Chr13:72760623 [GRCh38]
Chr13:73334761 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1897T>C (p.Ser633Pro) single nucleotide variant not specified [RCV004283109] Chr13:72766045 [GRCh38]
Chr13:73340183 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1505T>C (p.Val502Ala) single nucleotide variant not specified [RCV004280343] Chr13:72771895 [GRCh38]
Chr13:73346033 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_024808.5(BORA):c.1576T>C (p.Cys526Arg) single nucleotide variant not specified [RCV004279825] Chr13:72753783 [GRCh38]
Chr13:73327921 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_024808.5(BORA):c.1675C>A (p.Pro559Thr) single nucleotide variant not specified [RCV004252097] Chr13:72755211 [GRCh38]
Chr13:73329349 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_024808.5(BORA):c.1664A>T (p.Gln555Leu) single nucleotide variant not specified [RCV004272134] Chr13:72755200 [GRCh38]
Chr13:73329338 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.163C>G (p.Pro55Ala) single nucleotide variant not specified [RCV004274152] Chr13:72781670 [GRCh38]
Chr13:73355808 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2249A>G (p.Gln750Arg) single nucleotide variant not specified [RCV004268983] Chr13:72762016 [GRCh38]
Chr13:73336154 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1228A>G (p.Arg410Gly) single nucleotide variant not specified [RCV004251082] Chr13:72773695 [GRCh38]
Chr13:73347833 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1168G>C (p.Ala390Pro) single nucleotide variant not specified [RCV004354685] Chr13:72773755 [GRCh38]
Chr13:73347893 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.199C>A (p.Leu67Met) single nucleotide variant not specified [RCV004359381] Chr13:72781634 [GRCh38]
Chr13:73355772 [GRCh37]
Chr13:13q21.33
uncertain significance
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1
pathogenic
GRCh37/hg19 13q21.33-22.2(chr13:71119640-76667297)x1 copy number loss not provided [RCV003483189] Chr13:71119640..76667297 [GRCh37]
Chr13:13q21.33-22.2
uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34
pathogenic
GRCh37/hg19 13q22.1(chr13:73335021-73482893)x1 copy number loss not specified [RCV003987037] Chr13:73335021..73482893 [GRCh37]
Chr13:13q22.1
uncertain significance
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2
pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:56450978-93582180)x1 copy number loss not specified [RCV003987013] Chr13:56450978..93582180 [GRCh37]
Chr13:13q21.1-31.3
pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1
pathogenic
NM_014953.5(DIS3):c.2057C>T (p.Ala686Val) single nucleotide variant not specified [RCV004373883] Chr13:72763521 [GRCh38]
Chr13:73337659 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2236C>A (p.Arg746Ser) single nucleotide variant not specified [RCV004373884] Chr13:72762029 [GRCh38]
Chr13:73336167 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2384T>C (p.Ile795Thr) single nucleotide variant not specified [RCV004373886] Chr13:72761773 [GRCh38]
Chr13:73335911 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2819A>G (p.Asp940Gly) single nucleotide variant not specified [RCV004373888] Chr13:72759853 [GRCh38]
Chr13:73333991 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.676A>G (p.Ile226Val) single nucleotide variant not specified [RCV004373889] Chr13:72776071 [GRCh38]
Chr13:73350209 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.757G>A (p.Ala253Thr) single nucleotide variant not specified [RCV004373891] Chr13:72775990 [GRCh38]
Chr13:73350128 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.910G>A (p.Ala304Thr) single nucleotide variant not specified [RCV004373892] Chr13:72775288 [GRCh38]
Chr13:73349426 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.266T>C (p.Ile89Thr) single nucleotide variant not specified [RCV004373887] Chr13:72780966 [GRCh38]
Chr13:73355104 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.691C>T (p.His231Tyr) single nucleotide variant not specified [RCV004373890] Chr13:72776056 [GRCh38]
Chr13:73350194 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.121G>C (p.Gly41Arg) single nucleotide variant DIS3-related disorder [RCV003912252]|not provided [RCV004704928] Chr13:72781712 [GRCh38]
Chr13:73355850 [GRCh37]
Chr13:13q21.33
likely benign
NM_014953.5(DIS3):c.1109G>A (p.Arg370Lys) single nucleotide variant DIS3-related disorder [RCV003951910] Chr13:72773814 [GRCh38]
Chr13:73347952 [GRCh37]
Chr13:13q21.33
likely benign
NM_014953.5(DIS3):c.1978A>G (p.Asn660Asp) single nucleotide variant DIS3-related disorder [RCV003969690] Chr13:72763600 [GRCh38]
Chr13:73337738 [GRCh37]
Chr13:13q21.33
likely benign
NM_014953.5(DIS3):c.1696A>G (p.Met566Val) single nucleotide variant not specified [RCV004373882] Chr13:72770963 [GRCh38]
Chr13:73345101 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_024808.5(BORA):c.1672A>G (p.Ser558Gly) single nucleotide variant not specified [RCV004434101] Chr13:72755208 [GRCh38]
Chr13:73329346 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1083C>T (p.Ser361=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560229] Chr13:72773964 [GRCh38]
Chr13:73348102 [GRCh37]
Chr13:13q21.33
likely benign
NM_014953.5(DIS3):c.1884G>A (p.Gly628=) single nucleotide variant not specified [RCV004616434] Chr13:72766058 [GRCh38]
Chr13:73340196 [GRCh37]
Chr13:13q21.33
likely benign
NM_014953.5(DIS3):c.2567G>T (p.Arg856Ile) single nucleotide variant not specified [RCV004616439] Chr13:72761466 [GRCh38]
Chr13:73335604 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1529G>A (p.Ser510Asn) single nucleotide variant not specified [RCV004616436] Chr13:72771871 [GRCh38]
Chr13:73346009 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.949G>A (p.Glu317Lys) single nucleotide variant not specified [RCV004616441] Chr13:72775249 [GRCh38]
Chr13:73349387 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.1036G>C (p.Val346Leu) single nucleotide variant not specified [RCV004616433] Chr13:72774011 [GRCh38]
Chr13:73348149 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.2632A>C (p.Lys878Gln) single nucleotide variant not specified [RCV004616435] Chr13:72761401 [GRCh38]
Chr13:73335539 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.631C>T (p.Leu211Phe) single nucleotide variant not specified [RCV004616437] Chr13:72777443 [GRCh38]
Chr13:73351581 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.624A>G (p.Ile208Met) single nucleotide variant not specified [RCV004616440] Chr13:72777450 [GRCh38]
Chr13:73351588 [GRCh37]
Chr13:13q21.33
uncertain significance
NM_014953.5(DIS3):c.865G>A (p.Glu289Lys) single nucleotide variant not specified [RCV004616442] Chr13:72775333 [GRCh38]
Chr13:73349471 [GRCh37]
Chr13:13q21.33
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR124-2hsa-miR-124-3pTarbaseexternal_infoProteomicsNEGATIVE

Predicted Target Of
Summary Value
Count of predictions:3161
Count of miRNA genes:1074
Interacting mature miRNAs:1285
Transcripts:ENST00000377767, ENST00000377780, ENST00000469339, ENST00000475871, ENST00000490646, ENST00000545453
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406914995GWAS563971_Hbody height QTL GWAS563971 (human)2e-08body height (VT:0001253)body height (CMO:0000106)137275522072755221Human
406951859GWAS600835_Hwellbeing measurement QTL GWAS600835 (human)0.000005wellbeing measurement137275680472756805Human
407175991GWAS824967_Hprostate carcinoma QTL GWAS824967 (human)0.000007prostate carcinoma137277594172775942Human
407362864GWAS1011840_Herythrocyte count QTL GWAS1011840 (human)1e-11erythrocyte countred blood cell count (CMO:0000025)137276526372765264Human
2289192BW359_HBody weight QTL 359 (human)0.0344Body fat amountpercent fat134998940475989404Human
407328073GWAS977049_Hdiet measurement QTL GWAS977049 (human)2e-08diet measurementfood intake measurement (CMO:0000772)137276789872767899Human

Markers in Region
WI-11923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,333,838 - 73,333,955UniSTSGRCh37
Build 361372,231,839 - 72,231,956RGDNCBI36
Celera1354,232,300 - 54,232,417RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,031,178 - 54,031,295UniSTS
GeneMap99-GB4 RH Map13214.01UniSTS
Whitehead-RH Map13191.5UniSTS
NCBI RH Map13624.1UniSTS
RH78453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,333,256 - 73,333,392UniSTSGRCh37
Build 361372,231,257 - 72,231,393RGDNCBI36
Celera1354,231,718 - 54,231,854RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,030,596 - 54,030,732UniSTS
GeneMap99-GB4 RH Map13213.61UniSTS
D13S1090E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,330,059 - 73,330,164UniSTSGRCh37
Build 361372,228,060 - 72,228,165RGDNCBI36
Celera1354,228,521 - 54,228,626RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,027,376 - 54,027,481UniSTS
D13S1212E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,329,460 - 73,329,526UniSTSGRCh37
Build 361372,227,461 - 72,227,527RGDNCBI36
Celera1354,227,922 - 54,227,988RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,026,777 - 54,026,843UniSTS
SHGC-8155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,356,325 - 73,356,513UniSTSGRCh37
Build 361372,254,326 - 72,254,514RGDNCBI36
Celera1354,254,787 - 54,254,975RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,053,664 - 54,053,852UniSTS
Stanford-G3 RH Map131834.0UniSTS
NCBI RH Map13609.6UniSTS
RH15742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,330,059 - 73,330,227UniSTSGRCh37
Build 361372,228,060 - 72,228,228RGDNCBI36
Celera1354,228,521 - 54,228,689RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,027,376 - 54,027,544UniSTS
GeneMap99-GB4 RH Map13213.61UniSTS
RH67956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,329,601 - 73,329,690UniSTSGRCh37
Build 361372,227,602 - 72,227,691RGDNCBI36
Celera1354,228,063 - 54,228,152RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,026,918 - 54,027,007UniSTS
GeneMap99-GB4 RH Map13213.71UniSTS
SHGC-34349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,329,419 - 73,329,546UniSTSGRCh37
Build 361372,227,420 - 72,227,547RGDNCBI36
Celera1354,227,881 - 54,228,008RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,026,736 - 54,026,863UniSTS
Stanford-G3 RH Map131851.0UniSTS
GeneMap99-GB4 RH Map13210.67UniSTS
Whitehead-RH Map13183.9UniSTS
NCBI RH Map13611.8UniSTS
GeneMap99-G3 RH Map131844.0UniSTS
WI-20990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,330,059 - 73,330,314UniSTSGRCh37
Build 361372,228,060 - 72,228,315RGDNCBI36
Celera1354,228,521 - 54,228,776RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,027,376 - 54,027,631UniSTS
GeneMap99-GB4 RH Map13214.11UniSTS
Whitehead-RH Map13191.6UniSTS
NCBI RH Map13619.3UniSTS
126o3FWD  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,355,477 - 73,355,591UniSTSGRCh37
Build 361372,253,478 - 72,253,592RGDNCBI36
Celera1354,253,939 - 54,254,053RGD
Cytogenetic Map13q22.1UniSTS
HuRef1354,052,816 - 54,052,930UniSTS
D22S296  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map20q13.32UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
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Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
MARC_7833-7834:996688078:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371373,346,003 - 73,346,865UniSTSGRCh37
Celera1354,244,465 - 54,245,327UniSTS
HuRef1354,043,343 - 54,044,205UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7305 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001128226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB001743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB023225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF035310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF330044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL080158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB075344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB091752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000377767   ⟹   ENSP00000366997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1372,752,169 - 72,781,900 (-)Ensembl
Ensembl Acc Id: ENST00000377780   ⟹   ENSP00000367011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1372,757,443 - 72,781,925 (-)Ensembl
Ensembl Acc Id: ENST00000475871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1372,780,846 - 72,782,094 (-)Ensembl
Ensembl Acc Id: ENST00000490646   ⟹   ENSP00000436350
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1372,759,675 - 72,781,854 (-)Ensembl
Ensembl Acc Id: ENST00000545453   ⟹   ENSP00000440058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1372,759,044 - 72,782,096 (-)Ensembl
RefSeq Acc Id: NM_001128226   ⟹   NP_001121698
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381372,752,169 - 72,781,900 (-)NCBI
GRCh371373,329,540 - 73,356,344 (-)RGD
Celera1354,228,002 - 54,254,806 (-)RGD
HuRef1354,026,857 - 54,053,605 (-)NCBI
CHM1_11373,297,230 - 73,323,979 (-)NCBI
T2T-CHM13v2.01371,973,643 - 72,003,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322348   ⟹   NP_001309277
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381372,752,169 - 72,781,900 (-)NCBI
CHM1_11373,297,230 - 73,323,979 (-)NCBI
T2T-CHM13v2.01371,973,643 - 72,003,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322349   ⟹   NP_001309278
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381372,752,169 - 72,781,900 (-)NCBI
CHM1_11373,297,230 - 73,323,979 (-)NCBI
T2T-CHM13v2.01371,973,643 - 72,003,383 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014953   ⟹   NP_055768
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381372,752,169 - 72,781,900 (-)NCBI
GRCh371373,329,540 - 73,356,344 (-)RGD
GRCh371373,329,540 - 73,356,344 (-)NCBI
Build 361372,227,541 - 72,254,007 (-)NCBI Archive
Celera1354,228,002 - 54,254,806 (-)RGD
HuRef1354,026,857 - 54,053,605 (-)NCBI
CHM1_11373,297,230 - 73,323,979 (-)NCBI
T2T-CHM13v2.01371,973,643 - 72,003,383 (-)NCBI
Sequence:
RefSeq Acc Id: NP_055768   ⟸   NM_014953
- Peptide Label: isoform a
- UniProtKB: Q8WWI2 (UniProtKB/Swiss-Prot),   Q7Z481 (UniProtKB/Swiss-Prot),   Q658Z7 (UniProtKB/Swiss-Prot),   Q5W0P8 (UniProtKB/Swiss-Prot),   Q5W0P7 (UniProtKB/Swiss-Prot),   B2RBL2 (UniProtKB/Swiss-Prot),   A6NI21 (UniProtKB/Swiss-Prot),   Q9UG36 (UniProtKB/Swiss-Prot),   Q9Y2L1 (UniProtKB/Swiss-Prot),   A8QI98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121698   ⟸   NM_001128226
- Peptide Label: isoform b
- UniProtKB: A8QI98 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309277   ⟸   NM_001322348
- Peptide Label: isoform c
- UniProtKB: Q49AG4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309278   ⟸   NM_001322349
- Peptide Label: isoform d
- UniProtKB: G3V1J5 (UniProtKB/TrEMBL),   Q49AG4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000436350   ⟸   ENST00000490646
Ensembl Acc Id: ENSP00000440058   ⟸   ENST00000545453
Ensembl Acc Id: ENSP00000366997   ⟸   ENST00000377767
Ensembl Acc Id: ENSP00000367011   ⟸   ENST00000377780
Protein Domains
PIN   PINc   Ribonuclease II/R

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2L1-F1-model_v2 AlphaFold Q9Y2L1 1-958 view protein structure

Promoters
RGD ID:6815064
Promoter ID:HG_MRA:4380
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AF035310,   U79246
Position:
Human AssemblyChrPosition (strand)Source
Build 361372,228,054 - 72,228,554 (-)MPROMDB
RGD ID:6790924
Promoter ID:HG_KWN:18077
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001128226,   NM_014953,   OTTHUMT00000045252,   OTTHUMT00000045253,   UC001VIZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361372,253,886 - 72,254,386 (-)MPROMDB
RGD ID:7226569
Promoter ID:EPDNEW_H19030
Type:initiation region
Name:DIS3_1
Description:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
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
GRCh381372,781,900 - 72,781,960EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20604 AgrOrtholog
COSMIC DIS3 COSMIC
Ensembl Genes ENSG00000083520 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377767 ENTREZGENE
  ENST00000377767.9 UniProtKB/Swiss-Prot
  ENST00000377780 ENTREZGENE
  ENST00000377780.8 UniProtKB/Swiss-Prot
  ENST00000490646.1 UniProtKB/TrEMBL
  ENST00000545453 ENTREZGENE
  ENST00000545453.5 UniProtKB/TrEMBL
Gene3D-CATH 2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.690 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  5'-nuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000083520 GTEx
HGNC ID HGNC:20604 ENTREZGENE
Human Proteome Map DIS3 Human Proteome Map
InterPro Dis3_CSD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_II/R UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNase_II/R_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNR_Ribonuclease UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rrp44_CSD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRP44_S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:22894 UniProtKB/Swiss-Prot
NCBI Gene 22894 ENTREZGENE
OMIM 607533 OMIM
PANTHER EXOSOME COMPLEX EXONUCLEASE RRP44 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RIBONUCLEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam OB_Dis3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIN_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rrp44_CSD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rrp44_S1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162383628 PharmGKB
PROSITE RIBONUCLEASE_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PINc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF88723 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NI21 ENTREZGENE
  A8QI98 ENTREZGENE, UniProtKB/TrEMBL
  B2RBL2 ENTREZGENE
  F2Z2C0_HUMAN UniProtKB/TrEMBL
  G3V1J5 ENTREZGENE, UniProtKB/TrEMBL
  Q49AG4 ENTREZGENE, UniProtKB/TrEMBL
  Q5W0P7 ENTREZGENE
  Q5W0P8 ENTREZGENE
  Q658Z7 ENTREZGENE
  Q7Z481 ENTREZGENE
  Q8WWI2 ENTREZGENE
  Q9UG36 ENTREZGENE
  Q9Y2L1 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NI21 UniProtKB/Swiss-Prot
  B2RBL2 UniProtKB/Swiss-Prot
  Q5W0P7 UniProtKB/Swiss-Prot
  Q5W0P8 UniProtKB/Swiss-Prot
  Q658Z7 UniProtKB/Swiss-Prot
  Q7Z481 UniProtKB/Swiss-Prot
  Q8WWI2 UniProtKB/Swiss-Prot
  Q9UG36 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 DIS3  DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease    DIS3 exosome endoribonuclease and 3'-5' exoribonuclease  Symbol and/or name change 5135510 APPROVED
2014-03-12 DIS3  DIS3 exosome endoribonuclease and 3'-5' exoribonuclease    DIS3 mitotic control homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED