SCRT1 (scratch family transcriptional repressor 1) - Rat Genome Database

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Gene: SCRT1 (scratch family transcriptional repressor 1) Homo sapiens
Analyze
Symbol: SCRT1
Name: scratch family transcriptional repressor 1
RGD ID: 1314736
HGNC Page HGNC
Description: Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in nuclear body.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp547F072; hScrt; scratch 1; scratch family zinc finger 1; scratch homolog 1 zinc finger protein; scratch homolog 1, zinc finger protein; SCRT; transcriptional repressor scratch 1; ZNF898
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 Ensembl8144,330,565 - 144,336,482 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,330,565 - 144,336,482 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,554,228 - 145,560,144 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,525,262 - 145,530,751 (-)NCBINCBI36hg18NCBI36
Celera8141,716,494 - 141,734,723 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,668,727 - 140,674,425 (-)NCBIHuRef
CHM1_18145,592,504 - 145,598,219 (-)NCBICHM1_1
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
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11181995   PMID:11274425   PMID:11687288   PMID:12477932   PMID:15489334   PMID:20043117   PMID:21873635   PMID:23332764   PMID:25201988   PMID:28473536   PMID:33309639   PMID:33888791  
PMID:33961781  


Genomics

Comparative Map Data
SCRT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,330,565 - 144,336,482 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,330,565 - 144,336,482 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,554,228 - 145,560,144 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,525,262 - 145,530,751 (-)NCBINCBI36hg18NCBI36
Celera8141,716,494 - 141,734,723 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,668,727 - 140,674,425 (-)NCBIHuRef
CHM1_18145,592,504 - 145,598,219 (-)NCBICHM1_1
Scrt1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,400,403 - 76,406,329 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,400,403 - 76,406,699 (-)Ensembl
GRCm381576,516,203 - 76,522,129 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,516,203 - 76,522,499 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,346,633 - 76,352,559 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,343,464 - 76,349,157 (-)NCBImm8
Celera1578,016,712 - 78,022,534 (-)NCBICelera
Cytogenetic Map15D3NCBI
Scrt1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,240,986 - 108,244,636 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7108,240,986 - 108,244,636 (-)Ensembl
Rnor_6.07117,583,453 - 117,587,103 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,583,453 - 117,587,103 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,571,084 - 117,574,734 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,569,141 - 114,572,791 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17114,601,230 - 114,606,928 (-)NCBI
Celera7104,592,479 - 104,596,126 (-)NCBICelera
Cytogenetic Map7q34NCBI
Scrt1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,950,663 - 2,953,645 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,948,137 - 2,953,955 (-)NCBIChiLan1.0ChiLan1.0
SCRT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,085,612 - 144,089,875 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v08141,094,285 - 141,100,298 (-)NCBIMhudiblu_PPA_v0panPan3
SCRT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1337,722,410 - 37,728,358 (-)NCBI
ROS_Cfam_1.01338,235,055 - 38,241,000 (-)NCBI
ROS_Cfam_1.0 Ensembl1338,235,042 - 38,240,627 (-)Ensembl
UMICH_Zoey_3.11337,927,195 - 37,933,140 (-)NCBI
UNSW_CanFamBas_1.01338,035,833 - 38,041,760 (-)NCBI
UU_Cfam_GSD_1.01338,512,166 - 38,518,121 (-)NCBI
Scrt1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303481,179 - 487,037 (+)NCBI
SpeTri2.0NW_0049364707,907,294 - 7,913,136 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SCRT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4443,094 - 446,676 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14443,100 - 449,113 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24592,290 - 596,110 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SCRT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,545,221 - 138,551,544 (-)NCBIChlSab1.1chlSab2
ChlSab1.18138,545,221 - 138,551,544 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,547,817 - 138,551,146 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660391,312,425 - 1,318,421 (+)NCBIVero_WHO_p1.0
Scrt1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,515,644 - 12,521,445 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
UniSTS:484395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,554,481 - 145,554,964UniSTSGRCh37
Build 368145,525,289 - 145,525,772RGDNCBI36
HuRef8140,668,980 - 140,669,463UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1426
Count of miRNA genes:597
Interacting mature miRNAs:676
Transcripts:ENST00000332135
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 adipose tissue appendage entire extraembryonic component
High
Medium 2 46 2173 1 12 25
Low 72 15 306 6 28 6 88 37 812 6 392 58 3 50
Below cutoff 2131 2589 1038 361 1158 210 3911 2049 631 127 770 1213 157 1083 2584 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000569446   ⟹   ENSP00000455711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,330,565 - 144,336,482 (-)Ensembl
RefSeq Acc Id: NM_031309   ⟹   NP_112599
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,330,565 - 144,336,482 (-)NCBI
GRCh378145,554,228 - 145,559,943 (-)NCBI
Build 368145,525,262 - 145,530,751 (-)NCBI Archive
Celera8141,716,494 - 141,734,723 (-)RGD
HuRef8140,668,727 - 140,674,425 (-)NCBI
CHM1_18145,592,504 - 145,598,219 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447291   ⟹   XP_024303059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,330,565 - 144,335,284 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_112599 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303059 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14675 (Get FASTA)   NCBI Sequence Viewer  
  AAK01467 (Get FASTA)   NCBI Sequence Viewer  
  EAW82125 (Get FASTA)   NCBI Sequence Viewer  
  Q9BWW7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_112599   ⟸   NM_031309
- UniProtKB: Q9BWW7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024303059   ⟸   XM_024447291
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000455711   ⟸   ENST00000569446

Promoters
RGD ID:7214451
Promoter ID:EPDNEW_H12972
Type:initiation region
Name:SCRT1_1
Description:scratch family transcriptional repressor 1
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
GRCh388144,336,458 - 144,336,518EPDNEW
RGD ID:6815655
Promoter ID:HG_MRA:16152
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:AL512683,   BC024967,   BC093806,   BC112229
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,526,281 - 145,526,781 (-)MPROMDB
RGD ID:6815647
Promoter ID:HG_MRA:16153
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:BC014675
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,526,931 - 145,527,431 (-)MPROMDB
RGD ID:6807017
Promoter ID:HG_KWN:62332
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562
Transcripts:NM_031309
Position:
Human AssemblyChrPosition (strand)Source
Build 368145,531,181 - 145,531,681 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
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 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
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 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
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 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
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 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
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 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 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 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
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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 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 8q24.3(chr8:145487123-145554934)x3 copy number gain See cases [RCV000445849] Chr8:145487123..145554934 [GRCh37]
Chr8:8q24.3
likely benign
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 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
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 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely 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 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
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 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
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 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
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 8q24.3(chr8:145536497-145562111)x1 copy number loss not provided [RCV000748012] Chr8:145536497..145562111 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145567438)x1 copy number loss not provided [RCV000748013] Chr8:145536497..145567438 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145567872)x1 copy number loss not provided [RCV000748014] Chr8:145536497..145567872 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145536497-145574608)x1 copy number loss not provided [RCV000748015] Chr8:145536497..145574608 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537235-145567438)x1 copy number loss not provided [RCV000748016] Chr8:145537235..145567438 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537339-145561963)x3 copy number gain not provided [RCV000748017] Chr8:145537339..145561963 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145537339-145562215)x1 copy number loss not provided [RCV000748018] Chr8:145537339..145562215 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
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 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15950 AgrOrtholog
COSMIC SCRT1 COSMIC
Ensembl Genes ENSG00000261678 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000455711 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000569446 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000261678 GTEx
HGNC ID HGNC:15950 ENTREZGENE
Human Proteome Map SCRT1 Human Proteome Map
InterPro SCRATCH1/2 UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot
  Znf_C2H2_type UniProtKB/Swiss-Prot
KEGG Report hsa:83482 UniProtKB/Swiss-Prot
NCBI Gene 83482 ENTREZGENE
OMIM 605858 OMIM
PANTHER PTHR24388:SF60 UniProtKB/Swiss-Prot
Pfam zf-C2H2 UniProtKB/Swiss-Prot
PharmGKB PA35015 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot
SMART ZnF_C2H2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot
UniProt Q9BWW7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MX66 UniProtKB/Swiss-Prot
  Q96C52 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 SCRT1  scratch family transcriptional repressor 1    scratch family zinc finger 1  Symbol and/or name change 5135510 APPROVED
2013-10-22 SCRT1  scratch family zinc finger 1    scratch homolog 1, zinc finger protein (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-09-01 SCRT1  scratch homolog 1, zinc finger protein (Drosophila)  SCRT1  scratch homolog 1, zinc finger protein (Drosophila)  Symbol and/or name change 5135510 APPROVED