LOC130002712 (ATAC-STARR-seq lymphoblastoid silent region 20345) - Rat Genome Database

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Gene: LOC130002712 (ATAC-STARR-seq lymphoblastoid silent region 20345) Homo sapiens
Analyze
Symbol: LOC130002712
Name: ATAC-STARR-seq lymphoblastoid silent region 20345
RGD ID: 329832606
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,552,231 - 128,553,000 (+)NCBIGRCh38GRCh38hg38GRCh38
T2T-CHM13v2.09140,759,071 - 140,759,840 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35858748  


Genomics

Variants

.
Variants in LOC130002712
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 copy number gain See cases [RCV000053777] Chr9:127919476..130079974 [GRCh38]
Chr9:130681755..132842253 [GRCh37]
Chr9:129721576..131882074 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:128236347-128912067)x1 copy number loss See cases [RCV000138929] Chr9:128236347..128912067 [GRCh38]
Chr9:130998626..131674346 [GRCh37]
Chr9:130038447..130714167 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_001130438.3(SPTAN1):c.-34C>G single nucleotide variant not specified [RCV000189465] Chr9:128552666 [GRCh38]
Chr9:131314945 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001130438.3(SPTAN1):c.-4G>A single nucleotide variant not specified [RCV000189515] Chr9:128552696 [GRCh38]
Chr9:131314975 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001130438.3(SPTAN1):c.-20T>C single nucleotide variant not specified [RCV000423151] Chr9:128552680 [GRCh38]
Chr9:131314959 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001130438.3(SPTAN1):c.-4+17G>A single nucleotide variant not specified [RCV000439340] Chr9:128552713 [GRCh38]
Chr9:131314992 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001130438.3(SPTAN1):c.-66_-49dup duplication not specified [RCV000482721] Chr9:128552633..128552634 [GRCh38]
Chr9:131314912..131314913 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001130438.3(SPTAN1):c.-13C>G single nucleotide variant not specified [RCV000615619] Chr9:128552687 [GRCh38]
Chr9:131314966 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.12:g.(?_127612384)_(128566997_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000819894]|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV001387712] Chr9:127612384..128566997 [GRCh38]
Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001130438.3(SPTAN1):c.-4+56C>G single nucleotide variant not provided [RCV002276258] Chr9:128552752 [GRCh38]
Chr9:131315031 [GRCh37]
Chr9:9q34.11		 likely benign

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130002712 COSMIC
GTEx LOC130002712 GTEx
Human Proteome Map LOC130002712 Human Proteome Map
NCBI Gene LOC130002712 ENTREZGENE