LOC117125601 (CRISPRi-FlowFISH-validated FUT1 regulatory element 3) - Rat Genome Database

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Gene: LOC117125601 (CRISPRi-FlowFISH-validated FUT1 regulatory element 3) Homo sapiens
Analyze
Symbol: LOC117125601
Name: CRISPRi-FlowFISH-validated FUT1 regulatory element 3
RGD ID: 38670376
Description: This genomic region was predicted to be an enhancer based on an activity-by-contact (ABC) model that predicts enhancer-gene connections, where the putative enhancer strength is measured by DNase I hypersensitivity and H3K27 acetylation, and the contact frequency by Hi-C. It was validated as a positively-acting cis-regulatory element for the FUT1 (fucosyltransferase 1, H blood group) gene based on CRISPR/Cas9-mediated perturbation (CRISPRi-FlowFISH method) in K562 erythroleukemia cells. [provided by RefSeq, Apr 2020]
Type: biological-region
RefSeq Status: REVIEWED
Previously known as: CRISPRi-FlowFISH-validated FUT1 regulatory element
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381948,745,108 - 48,745,628 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371949,248,365 - 49,248,885 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19qNCBI
T2T-CHM13v2.01951,739,529 - 51,740,049 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:31784727  


Genomics

Variants

.
Variants in LOC117125601
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3 copy number gain See cases [RCV000135686] Chr19:48577651..48839042 [GRCh38]
Chr19:49080908..49342299 [GRCh37]
Chr19:53772720..54034111 [NCBI36]
Chr19:19q13.33		 uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC117125601 COSMIC
GTEx LOC117125601 GTEx
Human Proteome Map LOC117125601 Human Proteome Map
NCBI Gene LOC117125601 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-12-13 LOC117125601  CRISPRi-FlowFISH-validated FUT1 regulatory element 3  LOC117125601  CRISPRi-FlowFISH-validated FUT1 regulatory element  Symbol and/or name change 5135510 APPROVED