AC063977.5 (novel transcript, antisense to SIGLEC7 and SIGLEC17P) - Rat Genome Database

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Gene: AC063977.5 (novel transcript, antisense to SIGLEC7 and SIGLEC17P) Homo sapiens
Analyze
Symbol: AC063977.5
Name: novel transcript, antisense to SIGLEC7 and SIGLEC17P
RGD ID: 16565108
Description: ASSOCIATED WITH genetic disease
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC063977.6; LOC101928517; uncharacterized LOC101928517
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381951,152,923 - 51,181,966 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1951,152,923 - 51,181,966 (-)EnsemblGRCh38hg38GRCh38
GRCh371951,656,180 - 51,685,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.41NCBI
HuRef1947,989,383 - 48,018,454 (-)NCBIHuRef
CHM1_11951,658,334 - 51,687,289 (-)NCBICHM1_1
T2T-CHM13v2.01954,241,531 - 54,270,594 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Genomics

Variants

.
Variants in AC063977.5
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014385.4(SIGLEC7):c.1231A>T (p.Thr411Ser) single nucleotide variant Inborn genetic diseases [RCV003248228] Chr19:51153072 [GRCh38]
Chr19:51656329 [GRCh37]
Chr19:19q13.41		 uncertain significance
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(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_014385.4(SIGLEC7):c.1332G>C (p.Lys444Asn) single nucleotide variant Inborn genetic diseases [RCV003251078] Chr19:51153173 [GRCh38]
Chr19:51656430 [GRCh37]
Chr19:19q13.41		 uncertain significance
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
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_014385.4(SIGLEC7):c.1370A>G (p.Asn457Ser) single nucleotide variant Inborn genetic diseases [RCV003282207] Chr19:51153211 [GRCh38]
Chr19:51656468 [GRCh37]
Chr19:19q13.41		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:79
Count of miRNA genes:79
Interacting mature miRNAs:79
Transcripts:ENST00000600074
Prediction methods:Miranda, Rnahybrid
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 1 1 1 5 1
Low 12 182 47 30 438 31 68 5 356 13 465 65 1 8 2 1
Below cutoff 1433 1735 1168 436 874 332 1981 992 2342 199 603 997 106 942 1170

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000600074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,152,923 - 51,181,966 (-)Ensembl
RefSeq Acc Id: ENST00000701322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1951,146,475 - 51,181,966 (-)Ensembl
RefSeq Acc Id: NR_110732
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381951,152,923 - 51,181,966 (-)NCBI
T2T-CHM13v2.01954,241,531 - 54,270,594 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AC063977.5 COSMIC
Ensembl Genes ENSG00000269072 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000600074 ENTREZGENE
GTEx ENSG00000269072 GTEx
Human Proteome Map AC063977.5 Human Proteome Map
NCBI Gene LOC101928517 ENTREZGENE
RNAcentral URS000075C27D RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-12-03 AC063977.5  novel transcript, antisense to SIGLEC7 and SIGLEC17P  AC063977.6  novel transcript, antisense to SIGLEC7 and SIGLEC17P  Symbol and/or name change 19259462 PROVISIONAL
2020-06-25 AC063977.6  novel transcript, antisense to SIGLEC7 and SIGLEC17P  LOC101928517  uncharacterized LOC101928517  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC101928517  uncharacterized LOC101928517  AC063977.6  novel transcript, antisense to SIGLEC7 and SIGLEC17P  Symbol and/or name change 5135510 APPROVED