AC004522.5 (novel transcript) - Rat Genome Database

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Gene: AC004522.5 (novel transcript) Homo sapiens
Analyze
Symbol: AC004522.5
Name: novel transcript
RGD ID: 16572022
Description:
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC004522.6; LOC105375423; uncharacterized LOC105375423
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38799,997,075 - 100,011,634 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl799,997,690 - 100,011,634 (+)EnsemblGRCh38hg38GRCh38
GRCh37799,594,698 - 99,609,257 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7q22.1NCBI
CHM1_1799,524,422 - 99,539,424 (+)NCBICHM1_1
T2T-CHM13v2.07101,236,584 - 101,251,139 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 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 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 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q22.1(chr7:99880388-100288453)x3 copy number gain See cases [RCV000142715] Chr7:99880388..100288453 [GRCh38]
Chr7:99478011..99886076 [GRCh37]
Chr7:99315947..99724012 [NCBI36]
Chr7:7q22.1		 likely benign|uncertain significance
GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3 copy number gain See cases [RCV000138109] Chr7:99932610..102473188 [GRCh38]
Chr7:99530233..102113635 [GRCh37]
Chr7:99368169..101900640 [NCBI36]
Chr7:7q22.1		 uncertain significance
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
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 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
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

Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000671037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl799,997,690 - 100,011,634 (+)Ensembl
RefSeq Acc Id: ENST00000689825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl799,997,693 - 100,011,630 (+)Ensembl
RefSeq Acc Id: ENST00000702863
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl799,997,765 - 99,998,713 (+)Ensembl
RefSeq Acc Id: NR_159959
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38799,997,690 - 100,011,634 (+)NCBI
T2T-CHM13v2.07101,237,199 - 101,251,139 (+)NCBI
Sequence:
RefSeq Acc Id: NR_159960
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38799,997,075 - 100,011,634 (+)NCBI
T2T-CHM13v2.07101,236,584 - 101,251,139 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AC004522.5 COSMIC
Ensembl Genes ENSG00000286923 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000671037 ENTREZGENE
GTEx ENSG00000286923 GTEx
Human Proteome Map AC004522.5 Human Proteome Map
NCBI Gene LOC105375423 ENTREZGENE
RNAcentral URS0000E60A48 RNACentral
  URS0000E60A4E RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-08-20 AC004522.5  novel transcript  AC004522.6  novel transcript  Symbol and/or name change 19259462 PROVISIONAL
2020-06-25 AC004522.6  novel transcript  LOC105375423  uncharacterized LOC105375423  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC105375423  uncharacterized LOC105375423  AC004522.6  novel transcript  Symbol and/or name change 5135510 APPROVED
2020-02-07 AC004522.6  novel transcript  AC004522.5  novel transcript  Symbol and/or name change 19259462 PROVISIONAL