LOC129998866 (ATAC-STARR-seq lymphoblastoid silent region 18406) - Rat Genome Database

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Gene: LOC129998866 (ATAC-STARR-seq lymphoblastoid silent region 18406) Homo sapiens
Analyze
Symbol: LOC129998866
Name: ATAC-STARR-seq lymphoblastoid silent region 18406
RGD ID: 329813956
Description: This genomic sequence represents an accessible chromatin region that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Genome Annotation Status: not in current annotation release
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3 copy number gain See cases [RCV000135630] Chr7:99195836..100348063 [GRCh38]
Chr7:98793459..99945686 [GRCh37]
Chr7:98631395..99783622 [NCBI36]
Chr7:7q22.1		 likely benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1 copy number loss See cases [RCV000135782] Chr7:99195836..102258175 [GRCh38]
Chr7:98793459..101718950 [GRCh37]
Chr7:98631395..101688175 [NCBI36]
Chr7:7q22.1		 pathogenic|uncertain significance
NC_000007.14:g.99369754_99378887del deletion Combined immunodeficiency [RCV001027545]|Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease [RCV001251028] Chr7:99369753..99378886 [GRCh38]
Chr7:98967376..98976509 [GRCh37]
Chr7:7q22.1		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1 copy number loss Multiple congenital anomalies/dysmorphic syndrome [RCV003327701] Chr7:98454022..100723798 [GRCh38]
Chr7:7q22.1		 pathogenic
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 copy number gain See cases [RCV000053573] Chr7:98288474..101259804 [GRCh38]
Chr7:97917786..100903085 [GRCh37]
Chr7:97755722..100689805 [NCBI36]
Chr7:7q21.3-22.1		 pathogenic
GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1 copy number loss See cases [RCV000054154] Chr7:99219420..100902269 [GRCh38]
Chr7:98817043..100499889 [GRCh37]
Chr7:98654979..100337825 [NCBI36]
Chr7:7q22.1		 pathogenic

Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_178311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information

Database Acc Id Source(s)
COSMIC LOC129998866 COSMIC
GTEx LOC129998866 GTEx
Human Proteome Map LOC129998866 Human Proteome Map
NCBI Gene LOC129998866 ENTREZGENE