SKOR2 (SKI family transcriptional corepressor 2) - Rat Genome Database

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Gene: SKOR2 (SKI family transcriptional corepressor 2) Homo sapiens
Analyze
Symbol: SKOR2
Name: SKI family transcriptional corepressor 2
RGD ID: 3160638
HGNC Page HGNC:32695
Description: Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CH18515; CORL2; functional smad suppressing element 18; functional Smad-suppressing element on chromosome 18; fussel-18; FUSSEL18; ladybird homeobox corepressor 1-like protein; LBX1 corepressor 1-like protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381847,206,169 - 47,251,660 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1847,206,169 - 47,251,660 (-)EnsemblGRCh38hg38GRCh38
GRCh371844,732,540 - 44,778,031 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,000,291 - 43,029,552 (-)NCBINCBI36Build 36hg18NCBI36
Celera1841,579,319 - 41,626,006 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1841,586,480 - 41,623,743 (-)NCBIHuRef
CHM1_11844,733,580 - 44,770,699 (-)NCBICHM1_1
T2T-CHM13v2.01847,396,432 - 47,441,946 (-)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

Cellular Component
cytoplasm  (IBA,IDA,IEA)
nucleus  (IBA,IDA,IEA)
transcription regulator complex  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:15809229   PMID:16200078   PMID:18522874   PMID:19274049   PMID:20029986   PMID:21102462   PMID:21873635   PMID:25201988   PMID:25231870   PMID:28473536   PMID:36543142  


Genomics

Comparative Map Data
SKOR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381847,206,169 - 47,251,660 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1847,206,169 - 47,251,660 (-)EnsemblGRCh38hg38GRCh38
GRCh371844,732,540 - 44,778,031 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361843,000,291 - 43,029,552 (-)NCBINCBI36Build 36hg18NCBI36
Celera1841,579,319 - 41,626,006 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1841,586,480 - 41,623,743 (-)NCBIHuRef
CHM1_11844,733,580 - 44,770,699 (-)NCBICHM1_1
T2T-CHM13v2.01847,396,432 - 47,441,946 (-)NCBIT2T-CHM13v2.0
Skor2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391876,934,428 - 76,988,759 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1876,944,100 - 76,988,037 (+)EnsemblGRCm39 Ensembl
GRCm381876,846,733 - 76,901,064 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1876,856,405 - 76,900,342 (+)EnsemblGRCm38mm10GRCm38
MGSCv371877,095,144 - 77,139,081 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361877,060,652 - 77,098,605 (+)NCBIMGSCv36mm8
Celera1878,040,716 - 78,084,655 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1851.93NCBI
Skor2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81872,679,449 - 72,721,117 (+)NCBIGRCr8
mRatBN7.21870,404,431 - 70,446,330 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1870,404,489 - 70,440,342 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01873,145,596 - 73,199,395 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1873,157,973 - 73,193,377 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01872,836,465 - 72,877,011 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41873,821,250 - 73,864,209 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1868,920,342 - 68,974,524 (+)NCBICelera
Cytogenetic Map18q12.3NCBI
Skor2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540232,582,575 - 32,618,436 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540232,577,189 - 32,618,611 (-)NCBIChiLan1.0ChiLan1.0
SKOR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21764,741,516 - 64,787,115 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11850,434,117 - 50,479,718 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01840,594,124 - 40,639,720 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11843,979,245 - 43,997,434 (-)NCBIpanpan1.1PanPan1.1panPan2
SKOR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1744,250,822 - 44,289,737 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha743,735,496 - 43,774,017 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0744,204,550 - 44,243,076 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl744,204,550 - 44,243,129 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1743,904,624 - 43,943,147 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0743,959,109 - 43,997,423 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0744,242,454 - 44,280,984 (+)NCBIUU_Cfam_GSD_1.0
Skor2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494440,472,580 - 40,516,135 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936983161,836 - 197,276 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936983156,466 - 197,281 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SKOR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl196,803,098 - 96,844,492 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1196,795,362 - 96,842,360 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21309,491,307 - 309,538,198 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SKOR2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11833,687,044 - 33,731,464 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1833,687,057 - 33,716,606 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660507,988,355 - 8,035,852 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Skor2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477810,758,013 - 10,809,789 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477810,757,829 - 10,807,277 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SKOR2
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:40718750-48354407)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053833]|See cases [RCV000053833] Chr18:40718750..48354407 [GRCh38]
Chr18:38298714..45880778 [GRCh37]
Chr18:36552712..44134776 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 copy number loss See cases [RCV000142696] Chr18:41722823..49043887 [GRCh38]
Chr18:39302787..46570257 [GRCh37]
Chr18:37556785..44824255 [NCBI36]
Chr18:18q12.3-21.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31		 pathogenic
GRCh37/hg19 18q21.1(chr18:44558006-44752041)x1 copy number loss not provided [RCV000739813] Chr18:44558006..44752041 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q21.1(chr18:44774077-44775573)x1 copy number loss not provided [RCV000739814] Chr18:44774077..44775573 [GRCh37]
Chr18:18q21.1		 benign
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.1(chr18:44552637-44765469)x3 copy number gain not provided [RCV000848851] Chr18:44552637..44765469 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3 copy number gain not provided [RCV000847739] Chr18:44619805..46854791 [GRCh37]
Chr18:18q21.1		 uncertain significance
GRCh37/hg19 18q12.3-21.1(chr18:41630585-45107905)x1 copy number loss not provided [RCV001006977] Chr18:41630585..45107905 [GRCh37]
Chr18:18q12.3-21.1		 pathogenic
NC_000018.9:g.(?_42281312)_(45423127_?)del deletion Microcephaly, epilepsy, and diabetes syndrome [RCV001300957] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 uncertain significance
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NC_000018.9:g.(?_42281312)_(45423127_?)dup duplication Microcephaly, epilepsy, and diabetes syndrome [RCV001923035]|Vici syndrome [RCV001923036] Chr18:42281312..45423127 [GRCh37]
Chr18:18q12.3-21.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 copy number loss not specified [RCV003987274] Chr18:33793283..46823898 [GRCh37]
Chr18:18q12.2-21.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:197
Count of miRNA genes:154
Interacting mature miRNAs:164
Transcripts:ENST00000400404, ENST00000425639
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-77853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371844,739,828 - 44,740,159UniSTSGRCh37
Build 361842,993,826 - 42,994,157RGDNCBI36
Celera1841,590,273 - 41,590,604RGD
Cytogenetic Map18q21.1UniSTS
HuRef1841,587,848 - 41,588,179UniSTS
TNG Radiation Hybrid Map1817342.0UniSTS
G18029  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371844,754,099 - 44,754,257UniSTSGRCh37
Build 361843,008,097 - 43,008,255RGDNCBI36
Celera1841,604,544 - 41,604,702RGD
Cytogenetic Map18q21.1UniSTS
HuRef1841,602,123 - 41,602,281UniSTS
Fussel18  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371844,774,932 - 44,775,454UniSTSGRCh37
Celera1841,625,384 - 41,625,906UniSTS
HuRef1841,623,121 - 41,623,643UniSTS


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
High
Medium 1 2 9 2
Low 4 5 80 259 3 379 14
Below cutoff 279 366 239 59 149 28 642 294 1120 23 128 215 31 138 392

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000400404   ⟹   ENSP00000383255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,231,123 - 47,249,183 (-)Ensembl
RefSeq Acc Id: ENST00000425639   ⟹   ENSP00000414750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,206,169 - 47,251,660 (-)Ensembl
RefSeq Acc Id: ENST00000620245   ⟹   ENSP00000483333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1847,212,089 - 47,249,183 (-)Ensembl
RefSeq Acc Id: NM_001037802   ⟹   NP_001032891
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,231,123 - 47,251,660 (-)NCBI
GRCh371844,738,460 - 44,775,554 (-)NCBI
HuRef1841,586,480 - 41,623,743 (-)NCBI
CHM1_11844,752,617 - 44,770,699 (-)NCBI
T2T-CHM13v2.01847,421,389 - 47,441,946 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278063   ⟹   NP_001264992
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,206,169 - 47,251,660 (-)NCBI
HuRef1841,586,480 - 41,623,743 (-)NCBI
CHM1_11844,733,580 - 44,770,699 (-)NCBI
T2T-CHM13v2.01847,396,432 - 47,441,946 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437757   ⟹   XP_047293713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,206,169 - 47,249,524 (-)NCBI
RefSeq Acc Id: XM_054319019   ⟹   XP_054174994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01847,396,432 - 47,439,805 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001264992   ⟸   NM_001278063
- Peptide Label: isoform 1
- UniProtKB: Q2VWA4 (UniProtKB/Swiss-Prot),   A0A087X0E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001032891   ⟸   NM_001037802
- Peptide Label: isoform 2
- UniProtKB: Q2VWA4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000483333   ⟸   ENST00000620245
RefSeq Acc Id: ENSP00000414750   ⟸   ENST00000425639
RefSeq Acc Id: ENSP00000383255   ⟸   ENST00000400404
RefSeq Acc Id: XP_047293713   ⟸   XM_047437757
- Peptide Label: isoform X1
- UniProtKB: Q2VWA4 (UniProtKB/Swiss-Prot),   A0A087X0E6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054174994   ⟸   XM_054319019
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q2VWA4-F1-model_v2 AlphaFold Q2VWA4 1-1015 view protein structure

Promoters
RGD ID:7237273
Promoter ID:EPDNEW_H24383
Type:initiation region
Name:SKOR2_1
Description:SKI family transcriptional corepressor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381847,251,654 - 47,251,714EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:32695 AgrOrtholog
COSMIC SKOR2 COSMIC
Ensembl Genes ENSG00000215474 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000400404 ENTREZGENE
  ENST00000400404.1 UniProtKB/Swiss-Prot
  ENST00000425639 ENTREZGENE
  ENST00000425639.3 UniProtKB/Swiss-Prot
  ENST00000620245 ENTREZGENE
  ENST00000620245.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.10.260.20 UniProtKB/Swiss-Prot
  3.10.390.10 UniProtKB/Swiss-Prot
GTEx ENSG00000215474 GTEx
HGNC ID HGNC:32695 ENTREZGENE
Human Proteome Map SKOR2 Human Proteome Map
InterPro c-SKI_SMAD4-bd_dom UniProtKB/Swiss-Prot
  DNA-bd_dom_put_sf UniProtKB/Swiss-Prot
  SAND-like_dom_sf UniProtKB/Swiss-Prot
  SKI/SNO/DAC UniProtKB/Swiss-Prot
  Ski_DNA-bd_sf UniProtKB/Swiss-Prot
  Tscrpt_reg_SKI_SnoN UniProtKB/Swiss-Prot
KEGG Report hsa:652991 UniProtKB/Swiss-Prot
NCBI Gene 652991 ENTREZGENE
OMIM 617138 OMIM
PANTHER PTHR10005 UniProtKB/Swiss-Prot
  PTHR10005:SF7 UniProtKB/Swiss-Prot
Pfam c-SKI_SMAD_bind UniProtKB/Swiss-Prot
  Ski_Sno UniProtKB/Swiss-Prot
PharmGKB PA165429121 PharmGKB
SMART c-SKI_SMAD_bind UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46955 UniProtKB/Swiss-Prot
  SSF63763 UniProtKB/Swiss-Prot
UniProt A0A087X0E6 ENTREZGENE
  Q2VWA4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A087X0E6 UniProtKB/Swiss-Prot