MIR598 (microRNA 598) - Rat Genome Database

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Gene: MIR598 (microRNA 598) Homo sapiens
Analyze
Symbol: MIR598
Name: microRNA 598
RGD ID: 1603078
HGNC Page HGNC:32854
Description: Predicted to act upstream of or within cellular response to lipopolysaccharide. Predicted to be part of RISC complex.
Type: ncrna (Ensembl: miRNA)
RefSeq Status: PROVISIONAL
Previously known as: hsa-mir-598; mir-598; MIRN598
RGD Orthologs
Mouse
Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38811,035,206 - 11,035,302 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl811,035,206 - 11,035,302 (-)EnsemblGRCh38hg38GRCh38
GRCh37810,892,716 - 10,892,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36810,930,125 - 10,930,221 (-)NCBINCBI36Build 36hg18NCBI36
Celera810,020,573 - 10,020,669 (-)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef89,822,679 - 9,822,775 (-)NCBIHuRef
CHM1_1810,957,969 - 10,958,065 (-)NCBICHM1_1
T2T-CHM13v2.088,703,709 - 8,703,805 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component
RISC complex  (IEA)

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:16381832   PMID:16505370   PMID:17604727   PMID:21037258   PMID:23034410   PMID:28161537   PMID:28315020   PMID:28882648   PMID:29257251   PMID:29272478   PMID:29444745   PMID:29768262  
PMID:30240003   PMID:31674056   PMID:32640974   PMID:33287917   PMID:35044104  


Genomics

Comparative Map Data
MIR598
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38811,035,206 - 11,035,302 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl811,035,206 - 11,035,302 (-)EnsemblGRCh38hg38GRCh38
GRCh37810,892,716 - 10,892,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36810,930,125 - 10,930,221 (-)NCBINCBI36Build 36hg18NCBI36
Celera810,020,573 - 10,020,669 (-)NCBICelera
Cytogenetic Map8p23.1NCBI
HuRef89,822,679 - 9,822,775 (-)NCBIHuRef
CHM1_1810,957,969 - 10,958,065 (-)NCBICHM1_1
T2T-CHM13v2.088,703,709 - 8,703,805 (+)NCBIT2T-CHM13v2.0
Mir598
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391463,964,638 - 63,964,716 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1463,964,638 - 63,964,716 (+)EnsemblGRCm39 Ensembl
GRCm381463,727,189 - 63,727,267 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1463,727,189 - 63,727,267 (+)EnsemblGRCm38mm10GRCm38
MGSCv371464,346,026 - 64,346,104 (+)NCBIGRCm37MGSCv37mm9NCBIm37
Celera1461,503,646 - 61,503,724 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1433.34NCBI
Mir598
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81542,138,609 - 42,138,687 (+)NCBIGRCr8
mRatBN7.21537,962,692 - 37,962,770 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1537,962,692 - 37,962,771 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1539,819,872 - 39,819,950 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01540,970,565 - 40,970,643 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01539,423,289 - 39,423,367 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01547,057,496 - 47,057,574 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1547,057,496 - 47,057,575 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01550,816,188 - 50,816,266 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1537,645,076 - 37,645,154 (+)NCBICelera
Cytogenetic Map15p12NCBI


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1 copy number loss See cases [RCV000053169] Chr8:8222339..12182465 [GRCh38]
Chr8:8079861..12039974 [GRCh37]
Chr8:8117271..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x3 copy number gain See cases [RCV000053484] Chr8:8273108..11948451 [GRCh38]
Chr8:8130630..11805960 [GRCh37]
Chr8:8168040..11843369 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7834379-12182465)x3 copy number gain See cases [RCV000134177] Chr8:7834379..12182465 [GRCh38]
Chr8:7691901..12039974 [GRCh37]
Chr8:7729311..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.1(chr8:8545843-11814470)x1 copy number loss See cases [RCV000134092] Chr8:8545843..11814470 [GRCh38]
Chr8:8403353..11671979 [GRCh37]
Chr8:8440763..11709388 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12546553)x3 copy number gain See cases [RCV000134923] Chr8:8273108..12546553 [GRCh38]
Chr8:8130630..12404062 [GRCh37]
Chr8:8168040..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-11948451)x1 copy number loss See cases [RCV000135749] Chr8:8273108..11948451 [GRCh38]
Chr8:8130630..11805960 [GRCh37]
Chr8:8168040..11843369 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12383643)x1 copy number loss See cases [RCV000135775] Chr8:8273108..12383643 [GRCh38]
Chr8:8130630..12241152 [GRCh37]
Chr8:8168040..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3 copy number gain See cases [RCV000136522] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x1 copy number loss See cases [RCV000136523] Chr8:7311968..12546553 [GRCh38]
Chr8:7169490..12404062 [GRCh37]
Chr8:7156900..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-21.3(chr8:241530-23198398)x3 copy number gain See cases [RCV000135967] Chr8:241530..23198398 [GRCh38]
Chr8:191530..23055911 [GRCh37]
Chr8:181530..23111856 [NCBI36]
Chr8:8p23.3-21.3		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2		 pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12610034)x1 copy number loss See cases [RCV000137505] Chr8:8253505..12610034 [GRCh38]
Chr8:8111027..12467543 [GRCh37]
Chr8:8148437..12511914 [NCBI36]
Chr8:8p23.1		 pathogenic|likely benign
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12712987)x3 copy number gain See cases [RCV000137984] Chr8:226452..12712987 [GRCh38]
Chr8:176452..12570496 [GRCh37]
Chr8:166452..12614867 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12050329)x3 copy number gain See cases [RCV000137864] Chr8:8222339..12050329 [GRCh38]
Chr8:8079861..11907838 [GRCh37]
Chr8:8117271..11945247 [NCBI36]
Chr8:8p23.1		 likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7103661-12299882)x3 copy number gain See cases [RCV000138529] Chr8:7103661..12299882 [GRCh38]
Chr8:6961183..12157391 [GRCh37]
Chr8:6948593..12201760 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-12003060)x1 copy number loss See cases [RCV000138559] Chr8:8253505..12003060 [GRCh38]
Chr8:8111027..11860569 [GRCh37]
Chr8:8148437..11897978 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.2-23.1(chr8:3934205-11526939)x1 copy number loss See cases [RCV000138943] Chr8:3934205..11526939 [GRCh38]
Chr8:3791727..11384448 [GRCh37]
Chr8:3779135..11421857 [NCBI36]
Chr8:8p23.2-23.1		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:226452-16280146)x3 copy number gain See cases [RCV000141418] Chr8:226452..16280146 [GRCh38]
Chr8:176452..16137655 [GRCh37]
Chr8:166452..16182026 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.1(chr8:8253505-11422633)x1 copy number loss See cases [RCV000141377] Chr8:8253505..11422633 [GRCh38]
Chr8:8111027..11280142 [GRCh37]
Chr8:8148437..11317552 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:10510192-12003060)x3 copy number gain See cases [RCV000140847] Chr8:10510192..12003060 [GRCh38]
Chr8:10367702..11860569 [GRCh37]
Chr8:10405112..11897978 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.1(chr8:8222339-11984333)x1 copy number loss See cases [RCV000140886] Chr8:8222339..11984333 [GRCh38]
Chr8:8079861..11841842 [GRCh37]
Chr8:8117271..11879251 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12037723)x1 copy number loss See cases [RCV000141976] Chr8:8235647..12037723 [GRCh38]
Chr8:8093169..11895232 [GRCh37]
Chr8:8130579..11932641 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3 copy number gain See cases [RCV000141557] Chr8:8764178..11063564 [GRCh38]
Chr8:8621688..10921074 [GRCh37]
Chr8:8659098..10958484 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:8273108-12610034)x1 copy number loss See cases [RCV000142710] Chr8:8273108..12610034 [GRCh38]
Chr8:8130630..12467543 [GRCh37]
Chr8:8168040..12511914 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8235647-12077956)x1 copy number loss See cases [RCV000143356] Chr8:8235647..12077956 [GRCh38]
Chr8:8093169..11935465 [GRCh37]
Chr8:8130579..11972874 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8235544-12088347)x3 copy number gain See cases [RCV000143280] Chr8:8235544..12088347 [GRCh38]
Chr8:8093066..11945856 [GRCh37]
Chr8:8130476..11983265 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:226452-12698554)x3 copy number gain See cases [RCV000143248] Chr8:226452..12698554 [GRCh38]
Chr8:176452..12556063 [GRCh37]
Chr8:166452..12600434 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12182465)x1 copy number loss See cases [RCV000148286] Chr8:8222339..12182465 [GRCh38]
Chr8:8079861..12039974 [GRCh37]
Chr8:8117271..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12182465)x3 copy number gain See cases [RCV000051192] Chr8:7411297..12182465 [GRCh38]
Chr8:7268819..12039974 [GRCh37]
Chr8:7256229..12077383 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:8222339-12383643)x1 copy number loss See cases [RCV000050658] Chr8:8222339..12383643 [GRCh38]
Chr8:8079861..12241152 [GRCh37]
Chr8:8117271..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:9970431-11984392)x3 copy number gain See cases [RCV000052154] Chr8:9970431..11984392 [GRCh38]
Chr8:9827941..11841901 [GRCh37]
Chr8:9865351..11879310 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:10056979-11573632)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052155]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052155]|See cases [RCV000052155] Chr8:10056979..11573632 [GRCh38]
Chr8:9914489..11431141 [GRCh37]
Chr8:9951899..11468550 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.1(chr8:10094463-11518412)x3 copy number gain See cases [RCV000052156] Chr8:10094463..11518412 [GRCh38]
Chr8:9951973..11375921 [GRCh37]
Chr8:9989383..11413330 [NCBI36]
Chr8:8p23.1		 uncertain significance
GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3 copy number gain See cases [RCV000053482] Chr8:8222139..12383784 [GRCh38]
Chr8:8079661..12241293 [GRCh37]
Chr8:8117071..12285664 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8272908-12182621)x3 copy number gain See cases [RCV000053483] Chr8:8272908..12182621 [GRCh38]
Chr8:8130430..12040130 [GRCh37]
Chr8:8167840..12077539 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8336212-11984392)x3 copy number gain See cases [RCV000053485] Chr8:8336212..11984392 [GRCh38]
Chr8:8193728..11841901 [GRCh37]
Chr8:8231138..11879310 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.1(chr8:8336212-11984392)x1 copy number loss See cases [RCV000053486] Chr8:8336212..11984392 [GRCh38]
Chr8:8193728..11841901 [GRCh37]
Chr8:8231138..11879310 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:8336212-12021806)x3 copy number gain See cases [RCV000053489] Chr8:8336212..12021806 [GRCh38]
Chr8:8193728..11879315 [GRCh37]
Chr8:8231138..11916724 [NCBI36]
Chr8:8p23.1		 pathogenic|uncertain significance
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-23.1(chr8:96310-12021806)x3 copy number gain See cases [RCV000053600] Chr8:96310..12021806 [GRCh38]
Chr8:46310..11879315 [GRCh37]
Chr8:36310..11916724 [NCBI36]
Chr8:8p23.3-23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7195664-12383643)x1 copy number loss See cases [RCV000053154] Chr8:7195664..12383643 [GRCh38]
Chr8:7053186..12241152 [GRCh37]
Chr8:7040596..12285523 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-22(chr8:241530-17678697)x3 copy number gain See cases [RCV000053603] Chr8:241530..17678697 [GRCh38]
Chr8:191530..17536206 [GRCh37]
Chr8:181530..17580486 [NCBI36]
Chr8:8p23.3-22		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1(chr8:7234837-12514815)x1 copy number loss See cases [RCV000053165] Chr8:7234837..12514815 [GRCh38]
Chr8:7092359..12372324 [GRCh37]
Chr8:7079769..12416695 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411097-12610175)x1 copy number loss See cases [RCV000053166] Chr8:7411097..12610175 [GRCh38]
Chr8:7268619..12467684 [GRCh37]
Chr8:7256029..12512055 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-11961807)x1 copy number loss See cases [RCV000053167] Chr8:7411297..11961807 [GRCh38]
Chr8:7268819..11819316 [GRCh37]
Chr8:7256229..11856725 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:7411297-12546553)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053168]|See cases [RCV000053168] Chr8:7411297..12546553 [GRCh38]
Chr8:7268819..12404062 [GRCh37]
Chr8:7256229..12448433 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.1(chr8:9924272-11573632)x1 copy number loss See cases [RCV000054226] Chr8:9924272..11573632 [GRCh38]
Chr8:9781782..11431141 [GRCh37]
Chr8:9819192..11468550 [NCBI36]
Chr8:8p23.1		 pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1 copy number loss Neurodevelopmental disorder [RCV003327729] Chr8:449893..23854904 [GRCh38]
Chr8:8p23.3-21.2		 pathogenic
miRNA Target Status

Confirmed Targets
Gene TargetMature miRNAMethod NameResult TypeData TypeSupport TypePMID
WASHC2Chsa-miR-598-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Targets
Summary Value
Count of predictions:7874
Count of gene targets:3991
Count of transcripts:6859
Interacting mature miRNAs:hsa-miR-598-3p, hsa-miR-598-5p
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
Medium
Low 31 25 61 9 223 8 87 31 74 28 83 112 1 2 21
Below cutoff 78 36 50 8 53 4 73 41 73 21 34 58 7 17 40 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000384868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl811,035,206 - 11,035,302 (-)Ensembl
RefSeq Acc Id: NR_030328
RefSeq Status: PROVISIONAL
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38811,035,206 - 11,035,302 (-)NCBI
GRCh37810,892,716 - 10,892,812 (-)RGD
Celera810,020,573 - 10,020,669 (-)RGD
HuRef89,822,679 - 9,822,775 (-)ENTREZGENE
CHM1_1810,957,969 - 10,958,065 (-)NCBI
T2T-CHM13v2.088,703,709 - 8,703,805 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32854 AgrOrtholog
COSMIC MIR598 COSMIC
Ensembl Genes ENSG00000207600 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000384868 ENTREZGENE
GTEx ENSG00000207600 GTEx
HGNC ID HGNC:32854 ENTREZGENE
Human Proteome Map MIR598 Human Proteome Map
miRBase MI0003610 ENTREZGENE
NCBI Gene 693183 ENTREZGENE
PharmGKB PA164722894 PharmGKB
RNAcentral URS000028FD1A RNACentral
  URS0000669010 RNACentral
  URS000075F0D1 RNACentral