DSCC1 (DNA replication and sister chromatid cohesion 1) - Rat Genome Database

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Gene: DSCC1 (DNA replication and sister chromatid cohesion 1) Homo sapiens
Analyze
Symbol: DSCC1
Name: DNA replication and sister chromatid cohesion 1
RGD ID: 1604296
HGNC Page HGNC
Description: Contributes to DNA clamp loader activity and single-stranded DNA helicase activity. Involved in maintenance of mitotic sister chromatid cohesion; positive regulation of DNA-directed DNA polymerase activity; and post-translational protein acetylation. Localizes to chromosome and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DCC1; defective in sister chromatid cohesion 1 homolog; defective in sister chromatid cohesion protein 1 homolog; MGC5528; sister chromatid cohesion protein DCC1
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
GRCh38.p13 Ensembl8119,833,976 - 119,855,894 (-)EnsemblGRCh38hg38GRCh38
GRCh388119,833,960 - 119,855,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,846,216 - 120,868,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,915,397 - 120,937,330 (-)NCBINCBI36hg18NCBI36
Celera8117,035,242 - 117,057,287 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,167,062 - 116,189,042 (-)NCBIHuRef
CHM1_18120,887,012 - 120,908,997 (-)NCBICHM1_1
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

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12171929   PMID:12477932   PMID:12766176   PMID:12930902   PMID:12975309   PMID:14702039   PMID:16344560   PMID:16682347   PMID:18499658   PMID:19907496   PMID:20826785   PMID:21873635  
PMID:22939629   PMID:24465681   PMID:26186194   PMID:26344197   PMID:26496610   PMID:28514442   PMID:29576527   PMID:32814053  


Genomics

Comparative Map Data
DSCC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8119,833,976 - 119,855,894 (-)EnsemblGRCh38hg38GRCh38
GRCh388119,833,960 - 119,855,920 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,846,216 - 120,868,134 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,915,397 - 120,937,330 (-)NCBINCBI36hg18NCBI36
Celera8117,035,242 - 117,057,287 (-)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,167,062 - 116,189,042 (-)NCBIHuRef
CHM1_18120,887,012 - 120,908,997 (-)NCBICHM1_1
Dscc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,939,497 - 54,953,887 (-)NCBIGRCm39mm39
GRCm39 Ensembl1554,939,495 - 54,953,887 (-)Ensembl
GRCm381555,076,101 - 55,090,491 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1555,076,099 - 55,090,491 (-)EnsemblGRCm38mm10GRCm38
MGSCv371554,907,656 - 54,922,033 (-)NCBIGRCm37mm9NCBIm37
MGSCv361554,906,184 - 54,920,561 (-)NCBImm8
Celera1556,614,624 - 56,628,975 (-)NCBICelera
Cytogenetic Map15D1NCBI
Dscc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2786,482,588 - 86,498,212 (-)NCBI
Rnor_6.0 Ensembl794,758,800 - 94,774,569 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0794,759,076 - 94,774,787 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0795,399,906 - 95,415,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4791,602,671 - 91,618,122 (-)NCBIRGSC3.4rn4RGSC3.4
Celera783,276,534 - 83,292,120 (-)NCBICelera
Cytogenetic Map7q32NCBI
Dscc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541725,519,341 - 25,527,168 (-)NCBIChiLan1.0ChiLan1.0
DSCC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18119,272,490 - 119,294,342 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8119,272,490 - 119,294,342 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08116,524,249 - 116,546,178 (-)NCBIMhudiblu_PPA_v0panPan3
DSCC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,825,522 - 18,841,905 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,825,844 - 18,841,873 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,838,548 - 18,854,898 (-)NCBI
ROS_Cfam_1.01319,154,668 - 19,171,101 (-)NCBI
UMICH_Zoey_3.11318,881,784 - 18,898,141 (-)NCBI
UNSW_CanFamBas_1.01318,981,280 - 18,997,700 (-)NCBI
UU_Cfam_GSD_1.01319,212,008 - 19,228,492 (-)NCBI
Dscc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,423,427 - 19,442,974 (+)NCBI
SpeTri2.0NW_00493647026,849,541 - 26,869,040 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DSCC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl419,161,006 - 19,267,412 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1419,161,063 - 19,180,002 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2420,185,806 - 20,200,160 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DSCC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18114,396,295 - 114,418,371 (-)NCBI
ChlSab1.1 Ensembl8114,397,251 - 114,418,227 (-)Ensembl
Vero_WHO_p1.0NW_02366603925,869,186 - 25,891,106 (+)NCBI
Dscc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476317,916,694 - 17,928,092 (-)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:471
Count of miRNA genes:395
Interacting mature miRNAs:432
Transcripts:ENST00000313655, ENST00000521795
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 168 12 49 41 640 43 270 52 149 70 258 264 10 2 2 1
Low 2252 2203 1539 492 657 331 4056 2001 3442 301 1198 1300 165 1 1200 2759 4 1
Below cutoff 19 737 138 91 614 91 31 144 143 48 4 49 4 27

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000313655   ⟹   ENSP00000322180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,833,976 - 119,855,894 (-)Ensembl
RefSeq Acc Id: ENST00000521795
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,852,758 - 119,855,858 (-)Ensembl
RefSeq Acc Id: NM_024094   ⟹   NP_076999
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,833,976 - 119,855,894 (-)NCBI
GRCh378120,846,181 - 120,868,170 (-)RGD
Build 368120,915,397 - 120,937,330 (-)NCBI Archive
Celera8117,035,242 - 117,057,287 (-)RGD
HuRef8116,167,062 - 116,189,042 (-)RGD
CHM1_18120,887,012 - 120,908,997 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251065   ⟹   XP_005251122
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,833,960 - 119,855,920 (-)NCBI
GRCh378120,846,181 - 120,868,170 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_076999   ⟸   NM_024094
- UniProtKB: Q9BVC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251122   ⟸   XM_005251065
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000322180   ⟸   ENST00000313655

Promoters
RGD ID:7214069
Promoter ID:EPDNEW_H12781
Type:initiation region
Name:DSCC1_2
Description:DNA replication and sister chromatid cohesion 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12782  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,855,858 - 119,855,918EPDNEW
RGD ID:7214071
Promoter ID:EPDNEW_H12782
Type:initiation region
Name:DSCC1_1
Description:DNA replication and sister chromatid cohesion 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12781  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,856,064 - 119,856,124EPDNEW
RGD ID:6806615
Promoter ID:HG_KWN:61987
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_024094
Position:
Human AssemblyChrPosition (strand)Source
Build 368120,937,129 - 120,937,629 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
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-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 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.12(chr8:119336700-119893839)x3 copy number gain See cases [RCV000136693] Chr8:119336700..119893839 [GRCh38]
Chr8:120348940..120906079 [GRCh37]
Chr8:120418121..120975260 [NCBI36]
Chr8:8q24.12
uncertain significance
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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
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 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120602818-120960053)x3 copy number gain See cases [RCV000447837] Chr8:120602818..120960053 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120582871-120958270)x3 copy number gain not provided [RCV000747800] Chr8:120582871..120958270 [GRCh37]
Chr8:8q24.12
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120572884-120976352)x3 copy number gain not provided [RCV000849946] Chr8:120572884..120976352 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120577149-120973977)x3 copy number gain not provided [RCV001006139] Chr8:120577149..120973977 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24453 AgrOrtholog
COSMIC DSCC1 COSMIC
Ensembl Genes ENSG00000136982 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000322180 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000313655 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000136982 GTEx
HGNC ID HGNC:24453 ENTREZGENE
Human Proteome Map DSCC1 Human Proteome Map
InterPro Dcc1 UniProtKB/Swiss-Prot
KEGG Report hsa:79075 UniProtKB/Swiss-Prot
NCBI Gene 79075 ENTREZGENE
OMIM 613203 OMIM
PANTHER PTHR13395 UniProtKB/Swiss-Prot
Pfam Dcc1 UniProtKB/Swiss-Prot
PharmGKB PA162384079 PharmGKB
UniProt DCC1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q969N5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-06-04 DSCC1  DNA replication and sister chromatid cohesion 1  DSCC1  defective in sister chromatid cohesion 1 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED