AC188617.1 (novel transcript) - Rat Genome Database

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Gene: AC188617.1 (novel transcript) Homo sapiens
Analyze
Symbol: AC188617.1
Name: novel transcript
RGD ID: 16571817
Description:
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC116435278; uncharacterized LOC116435278
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387425,462 - 439,389 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7425,373 - 439,389 (+)EnsemblGRCh38hg38GRCh38
GRCh377465,428 - 479,372 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p22.3NCBI
T2T-CHM13v2.07524,989 - 538,933 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Genomics

Variants

.
Variants in AC188617.1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3(chr7:54165-725325)x1 copy number loss See cases [RCV000138846] Chr7:54165..725325 [GRCh38]
Chr7:54165..764962 [GRCh37]
Chr7:149248..731488 [NCBI36]
Chr7:7p22.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1441125)x1 copy number loss See cases [RCV000052254] Chr7:54185..1441125 [GRCh38]
Chr7:54185..1480761 [GRCh37]
Chr7:149268..1447287 [NCBI36]
Chr7:7p22.3		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1206119)x3 copy number gain See cases [RCV000134140] Chr7:54185..1206119 [GRCh38]
Chr7:54185..1245755 [GRCh37]
Chr7:149268..1212281 [NCBI36]
Chr7:7p22.3		 uncertain significance
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 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1		 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 7p22.3(chr7:54185-1331046)x1 copy number loss See cases [RCV000137163] Chr7:54185..1331046 [GRCh38]
Chr7:54185..1370682 [GRCh37]
Chr7:149268..1337208 [NCBI36]
Chr7:7p22.3		 pathogenic|uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2		 pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2		 uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000052253] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3(chr7:45130-821632)x1 copy number loss See cases [RCV000138365] Chr7:45130..821632 [GRCh38]
Chr7:45130..861269 [GRCh37]
Chr7:140213..827795 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3(chr7:45130-1298050)x1 copy number loss See cases [RCV000143341] Chr7:45130..1298050 [GRCh38]
Chr7:45130..1337686 [GRCh37]
Chr7:140213..1304212 [NCBI36]
Chr7:7p22.3		 uncertain significance
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000148193] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic

Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000652788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7425,483 - 428,341 (+)Ensembl
RefSeq Acc Id: ENST00000659509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7425,373 - 430,834 (+)Ensembl
RefSeq Acc Id: ENST00000664509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7425,482 - 439,389 (+)Ensembl
RefSeq Acc Id: NR_165237
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387425,462 - 430,834 (+)NCBI
T2T-CHM13v2.07524,989 - 530,374 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165238
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387425,462 - 428,341 (+)NCBI
T2T-CHM13v2.07524,989 - 527,880 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165239
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387425,462 - 439,389 (+)NCBI
T2T-CHM13v2.07524,989 - 538,933 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AC188617.1 COSMIC
Ensembl Genes ENSG00000286710 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000652788 ENTREZGENE
  ENST00000659509 ENTREZGENE
  ENST00000664509 ENTREZGENE
GTEx ENSG00000286710 GTEx
Human Proteome Map AC188617.1 Human Proteome Map
NCBI Gene LOC116435278 ENTREZGENE
RNAcentral URS00019811B0 RNACentral
  URS0001981222 RNACentral
  URS00019812DE RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-07-02 AC188617.1  novel transcript  LOC116435278  uncharacterized LOC116435278  Symbol and/or name change 19259462 PROVISIONAL
2020-06-30 LOC116435278  uncharacterized LOC116435278  AC188617.1  novel transcript  Symbol and/or name change 5135510 APPROVED
2020-06-25 AC188617.1  novel transcript  LOC116435278  uncharacterized LOC116435278  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC116435278  uncharacterized LOC116435278  AC188617.1  novel transcript  Symbol and/or name change 5135510 APPROVED