AC138649.1 (novel transcript, sense overlapping NIPA1) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: AC138649.1 (novel transcript, sense overlapping NIPA1) Homo sapiens
Analyze
Symbol: AC138649.1
Name: novel transcript, sense overlapping NIPA1
RGD ID: 16567140
Description: ASSOCIATED WITH Autism; autistic disorder; chromosome 15q11.2 deletion syndrome
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC283683; uncharacterized LOC283683
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381522,757,857 - 22,778,737 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1522,757,841 - 22,778,741 (+)EnsemblGRCh38hg38GRCh38
GRCh371523,094,331 - 23,115,254 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map15q11.2NCBI
HuRef151,405,882 - 1,424,577 (-)NCBIHuRef
CHM1_11523,043,631 - 23,063,998 (-)NCBICHM1_1
T2T-CHM13v2.01520,429,841 - 20,450,576 (+)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
Autism  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:12477932  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000015.10:g.22698177_(23120963_23380983)del deletion Chromosome 15q11.2 deletion syndrome [RCV003221323] Chr15:22698177..23120963 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000050743] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655583-23107431)x1 copy number loss See cases [RCV000134106] Chr15:22655583..23107431 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22590297-23102647)x1 copy number loss See cases [RCV000143282] Chr15:22590297..23102647 [GRCh38]
Chr15:22770421..23282799 [GRCh37]
Chr15:20321785..20834240 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|likely benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22681827)_(23226874_?)del deletion Schizophrenia [RCV000754152] Chr15:22681827..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22751662)_(23126124_?)del deletion Autism [RCV000754153] Chr15:22751662..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22770232)_(23126124_?)del deletion Autism [RCV000754154] Chr15:22770232..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22726999-23066575)x3 copy number gain See cases [RCV000143066] Chr15:22726999..23066575 [GRCh38]
Chr15:22765637..23146102 [GRCh37]
Chr15:20317001..20697543 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148283] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22581937-23102647)x1 copy number loss See cases [RCV000143552] Chr15:22581937..23102647 [GRCh38]
Chr15:22770421..23291159 [GRCh37]
Chr15:20321785..20842600 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22595661-23102647)x1 copy number loss See cases [RCV000142160] Chr15:22595661..23102647 [GRCh38]
Chr15:22770421..23277435 [GRCh37]
Chr15:20321785..20828876 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050342] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22775968-23066575)x1 copy number loss See cases [RCV000051245] Chr15:22775968..23066575 [GRCh38]
Chr15:22765628..23097100 [GRCh37]
Chr15:20316992..20648541 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22632213-23066575)x1 copy number loss See cases [RCV000051247] Chr15:22632213..23066575 [GRCh38]
Chr15:22779922..23240883 [GRCh37]
Chr15:20331286..20792324 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572658-23066575)x4 copy number gain See cases [RCV000051311] Chr15:22572658..23066575 [GRCh38]
Chr15:22698322..23300438 [GRCh37]
Chr15:20249686..20851879 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22358243-23006180)x3 copy number gain See cases [RCV000136131] Chr15:22358243..23006180 [GRCh38]
Chr15:22866888..23699760 [GRCh37]
Chr15:20418329..21250853 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22484473-23066575)x1 copy number loss See cases [RCV000051250] Chr15:22484473..23066575 [GRCh38]
Chr15:22779922..23388623 [GRCh37]
Chr15:20331286..20940064 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x1 copy number loss See cases [RCV000134444] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000136150] Chr15:22726969..23066575 [GRCh38]
Chr15:22698522..23146132 [GRCh37]
Chr15:20249886..20697573 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133774] Chr15:22612582..23066575 [GRCh38]
Chr15:22765628..23260514 [GRCh37]
Chr15:20316992..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22469457-23066575)x1 copy number loss See cases [RCV000134076] Chr15:22469457..23066575 [GRCh38]
Chr15:22765637..23403639 [GRCh37]
Chr15:20317001..20955080 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x1 copy number loss See cases [RCV000135507] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22444190)_(23226874_?)del deletion Autism [RCV000754148] Chr15:22444190..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22673143)_(23226874_?)del deletion Autism [RCV000754150] Chr15:22673143..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
NC_000015.10:g.(?_22570470)_(23226874_?)del deletion Autism [RCV000754149] Chr15:22570470..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22612562-23066575)x1 copy number loss See cases [RCV000143040] Chr15:22612562..23066575 [GRCh38]
Chr15:22765637..23260534 [GRCh37]
Chr15:20317001..20811975 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000051236] Chr15:22572809..23066575 [GRCh38]
Chr15:22669052..23300287 [GRCh37]
Chr15:20220416..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22750921-23066575)x1 copy number loss See cases [RCV000051248] Chr15:22750921..23066575 [GRCh38]
Chr15:22779922..23122189 [GRCh37]
Chr15:20331286..20673630 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572783-23107431)x3 copy number gain See cases [RCV000134799] Chr15:22572783..23107431 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22726999-23057280)x1 copy number loss See cases [RCV000136105] Chr15:22726999..23057280 [GRCh38]
Chr15:22815788..23146102 [GRCh37]
Chr15:20367152..20697543 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23057491)x3 copy number gain See cases [RCV000137201] Chr15:22655582..23057491 [GRCh38]
Chr15:22815577..23217514 [GRCh37]
Chr15:20366941..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22623415-23066575)x1 copy number loss See cases [RCV000138439] Chr15:22623415..23066575 [GRCh38]
Chr15:22765628..23249681 [GRCh37]
Chr15:20316992..20801122 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22655641-23012211)x1 copy number loss See cases [RCV000134448] Chr15:22655641..23012211 [GRCh38]
Chr15:22860857..23217455 [GRCh37]
Chr15:20412298..20768896 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22591732-23102647)x1 copy number loss See cases [RCV000143718] Chr15:22591732..23102647 [GRCh38]
Chr15:22770421..23281364 [GRCh37]
Chr15:20321785..20832805 [NCBI36]
Chr15:15q11.2		 likely benign|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22358243-23066575)x1 copy number loss See cases [RCV000051246] Chr15:22358243..23066575 [GRCh38]
Chr15:22765628..23739406 [GRCh37]
Chr15:20316992..21290499 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000050332] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050334] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22559691-23066575)x1 copy number loss See cases [RCV000051249] Chr15:22559691..23066575 [GRCh38]
Chr15:22779922..23313405 [GRCh37]
Chr15:20331286..20864846 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133685] Chr15:22612582..23066575 [GRCh38]
Chr15:22698522..23260514 [GRCh37]
Chr15:20249886..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572783-23066575)x1 copy number loss See cases [RCV000134798] Chr15:22572783..23066575 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2(chr15:22693148-23066575)x1 copy number loss See cases [RCV000142918] Chr15:22693148..23066575 [GRCh38]
Chr15:22765628..23179948 [GRCh37]
Chr15:20316992..20731389 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22673675)_(23126124_?)del deletion Schizophrenia [RCV000754151] Chr15:22673675..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22658112-23102647)x1 copy number loss See cases [RCV000139932] Chr15:22658112..23102647 [GRCh38]
Chr15:22770421..23214984 [GRCh37]
Chr15:20321785..20766425 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000148278] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22582277-23102647)x1 copy number loss See cases [RCV000142122] Chr15:22582277..23102647 [GRCh38]
Chr15:22770421..23290819 [GRCh37]
Chr15:20321785..20842260 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1 copy number loss See cases [RCV000050507] Chr15:22572809..23174546 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655583-23066575)x3 copy number gain See cases [RCV000134105] Chr15:22655583..23066575 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000148236] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148277] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000133674] Chr15:22572809..23066575 [GRCh38]
Chr15:22765628..23300287 [GRCh37]
Chr15:20316992..20851728 [NCBI36]
Chr15:15q11.2		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23107440)x3 copy number gain See cases [RCV000133722] Chr15:22655582..23107440 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3 copy number gain See cases [RCV000134443] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:20412298..20851679 [NCBI36]
Chr15:15q11.2		 likely benign
GRCh38/hg38 15q11.2(chr15:22590191-23102647)x1 copy number loss See cases [RCV000142110] Chr15:22590191..23102647 [GRCh38]
Chr15:22770421..23282905 [GRCh37]
Chr15:20321785..20834346 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22358243-23102647)x1 copy number loss See cases [RCV000143598] Chr15:22358243..23102647 [GRCh38]
Chr15:22770421..23682708 [GRCh37]
Chr15:20321785..21234149 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000051238] Chr15:22655582..23066575 [GRCh38]
Chr15:22756505..23217514 [GRCh37]
Chr15:20307869..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3 copy number gain See cases [RCV000135477] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 conflicting interpretations of pathogenicity|conflicting data from submitters
NC_000015.10:g.22723843_23122692dup duplication Neurodevelopmental disorder [RCV001839393] Chr15:22723843..23122692 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 copy number loss Angelman syndrome [RCV003327724] Chr15:20966971..25963714 [GRCh38]
Chr15:15q11.2-12		 pathogenic
GRCh38/hg38 15q11.2(chr15:22542702-23121344)x1 copy number loss Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444177] Chr15:22542702..23121344 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22633497-23084434) copy number loss Autism spectrum disorder [RCV003883419] Chr15:22633497..23084434 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4 copy number gain 15q11q13 microduplication syndrome [RCV003985068] Chr15:22612582..28435882 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118) copy number gain 15q11q13 microduplication syndrome [RCV003985066] Chr15:22612582..32116118 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699) copy number gain 15q11q13 microduplication syndrome [RCV003985067] Chr15:22612582..29993699 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:339
Count of miRNA genes:313
Interacting mature miRNAs:335
Transcripts:ENST00000458160
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 27 10 46 2 27 2 2 20 1891 2 407 43
Low 1843 1550 1154 50 486 31 1448 1384 1596 145 679 1248 25 691 798 3
Below cutoff 453 1146 225 319 896 183 2721 771 173 33 166 162 142 504 1885 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000618814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1522,758,493 - 22,764,516 (+)Ensembl
RefSeq Acc Id: ENST00000619611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1522,757,857 - 22,778,741 (+)Ensembl
RefSeq Acc Id: ENST00000619879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1522,757,835 - 22,768,189 (+)Ensembl
RefSeq Acc Id: NR_040057
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,757,857 - 22,778,737 (+)NCBI
T2T-CHM13v2.01520,429,841 - 20,450,576 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AC138649.1 COSMIC
Ensembl Genes ENSG00000274253 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000619611 ENTREZGENE
GTEx ENSG00000274253 GTEx
Human Proteome Map AC138649.1 Human Proteome Map
NCBI Gene LOC283683 ENTREZGENE
RNAcentral URS000075EC6E RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-06-25 AC138649.1  novel transcript, sense overlapping NIPA1  LOC283683  uncharacterized LOC283683  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC283683  uncharacterized LOC283683  AC138649.1  novel transcript, sense overlapping NIPA1  Symbol and/or name change 5135510 APPROVED