NPAS2-AS1 (NPAS2 antisense RNA 1) - Rat Genome Database

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Gene: NPAS2-AS1 (NPAS2 antisense RNA 1) Homo sapiens
Analyze
Symbol: NPAS2-AS1
Name: NPAS2 antisense RNA 1
RGD ID: 14700840
HGNC Page HGNC:40408
Description: ASSOCIATED WITH genetic disease; Non-obstructive azoospermia; spermatogenic failure 3
Type: ncrna
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382100,972,648 - 100,977,161 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372101,589,110 - 101,593,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map2q11.2NCBI
HuRef295,353,146 - 95,358,224 (-)NCBIHuRef
CHM1_12101,593,351 - 101,598,502 (-)NCBICHM1_1
T2T-CHM13v2.02101,431,345 - 101,435,858 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Genomics

Variants

.
Variants in NPAS2-AS1
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1 copy number loss See cases [RCV000139206] Chr2:98411773..101636907 [GRCh38]
Chr2:99028236..102253369 [GRCh37]
Chr2:98394668..101619801 [NCBI36]
Chr2:2q11.2		 likely pathogenic
NM_002518.4(NPAS2):c.1200G>C (p.Ser400=) single nucleotide variant not provided [RCV000896622] Chr2:100974862 [GRCh38]
Chr2:101591324 [GRCh37]
Chr2:2q11.2		 likely benign
NM_002518.4(NPAS2):c.1152A>G (p.Ser384=) single nucleotide variant not provided [RCV000884301] Chr2:100974814 [GRCh38]
Chr2:101591276 [GRCh37]
Chr2:2q11.2		 benign
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2		 pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
NM_002518.4(NPAS2):c.1282+9G>A single nucleotide variant not provided [RCV000936940] Chr2:100974953 [GRCh38]
Chr2:101591415 [GRCh37]
Chr2:2q11.2		 likely benign
GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3 copy number gain See cases [RCV000136916] Chr2:99253497..101559639 [GRCh38]
Chr2:99869960..102176101 [GRCh37]
Chr2:99236392..101542533 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3		 pathogenic
GRCh38/hg38 2q11.2(chr2:100705617-101466731)x3 copy number gain See cases [RCV000140755] Chr2:100705617..101466731 [GRCh38]
Chr2:101322079..102083193 [GRCh37]
Chr2:100688511..101449625 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 copy number gain See cases [RCV000141445] Chr2:100478285..106498909 [GRCh38]
Chr2:101094747..107115365 [GRCh37]
Chr2:100461179..106481797 [NCBI36]
Chr2:2q11.2-12.2		 uncertain significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1		 pathogenic
NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala) single nucleotide variant Non-obstructive azoospermia [RCV000234891] Chr2:100975538 [GRCh38]
Chr2:101592000 [GRCh37]
Chr2:2q11.2		 likely pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13		 pathogenic
NM_002518.4(NPAS2):c.1227G>A (p.Ser409=) single nucleotide variant not provided [RCV000953676] Chr2:100974889 [GRCh38]
Chr2:101591351 [GRCh37]
Chr2:2q11.2		 benign
NM_002518.4(NPAS2):c.1248C>T (p.His416=) single nucleotide variant not provided [RCV000909216] Chr2:100974910 [GRCh38]
Chr2:101591372 [GRCh37]
Chr2:2q11.2		 benign
NM_002518.4(NPAS2):c.1216C>G (p.His406Asp) single nucleotide variant not provided [RCV000971480] Chr2:100974878 [GRCh38]
Chr2:101591340 [GRCh37]
Chr2:2q11.2		 benign
NM_002518.4(NPAS2):c.1142A>G (p.Asp381Gly) single nucleotide variant Inborn genetic diseases [RCV002840304] Chr2:100974804 [GRCh38]
Chr2:101591266 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_002518.4(NPAS2):c.1366G>A (p.Gly456Arg) single nucleotide variant Inborn genetic diseases [RCV002869712] Chr2:100975541 [GRCh38]
Chr2:101592003 [GRCh37]
Chr2:2q11.2		 uncertain significance
NM_002518.4(NPAS2):c.1213A>G (p.Ser405Gly) single nucleotide variant Inborn genetic diseases [RCV002955489] Chr2:100974875 [GRCh38]
Chr2:101591337 [GRCh37]
Chr2:2q11.2		 uncertain significance

Expression


Sequence


Reference Sequences
RefSeq Acc Id: NR_110213
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382100,972,648 - 100,977,161 (-)NCBI
T2T-CHM13v2.02101,431,345 - 101,435,858 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC NPAS2-AS1 COSMIC
GTEx NPAS2-AS1 GTEx
HGNC ID HGNC:40408 ENTREZGENE
Human Proteome Map NPAS2-AS1 Human Proteome Map
NCBI Gene NPAS2-AS1 ENTREZGENE
RNAcentral URS000075CE7A RNACentral