NBPF11 (NBPF member 11) - 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: NBPF11 (NBPF member 11) Homo sapiens
Analyze
Symbol: NBPF11
Name: NBPF member 11
RGD ID: 1603883
HGNC Page HGNC:31993
Description: Predicted to be located in cytoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC200030; NBPF24; neuroblastoma breakpoint family member 11; neuroblastoma breakpoint family member 24; neuroblastoma breakpoint family, member 11; neuroblastoma breakpoint family, member 24
RGD Orthologs
Bonobo
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381148,102,151 - 148,152,281 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1148,102,047 - 148,152,322 (-)EnsemblGRCh38hg38GRCh38
GRCh371147,574,428 - 147,624,560 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,743,899 - 144,779,602 (-)NCBINCBI36Build 36hg18NCBI36
Celera1120,062,065 - 120,081,102 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1120,818,986 - 120,827,542 (-)NCBIHuRef
CHM1_11149,470,172 - 149,520,316 (-)NCBICHM1_1
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7700633   PMID:12477932   PMID:14702039   PMID:15146197   PMID:16079250   PMID:16344560   PMID:16710414   PMID:17567985   PMID:20096688   PMID:21906983   PMID:23314748   PMID:25798074  
PMID:34373451  


Genomics

Comparative Map Data
NBPF11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381148,102,151 - 148,152,281 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1148,102,047 - 148,152,322 (-)EnsemblGRCh38hg38GRCh38
GRCh371147,574,428 - 147,624,560 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361144,743,899 - 144,779,602 (-)NCBINCBI36Build 36hg18NCBI36
Celera1120,062,065 - 120,081,102 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef1120,818,986 - 120,827,542 (-)NCBIHuRef
CHM1_11149,470,172 - 149,520,316 (-)NCBICHM1_1
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBIT2T-CHM13v2.0
LOC100976640
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21102,604,236 - 102,628,740 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11102,192,588 - 102,217,155 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01122,521,697 - 122,547,069 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11112,983,272 - 113,008,026 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC103247232
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603815,253,554 - 15,268,043 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in NBPF11
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050278] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050868] Chr1:145215697..149076087 [GRCh38]
Chr1:145799543..148545520 [GRCh37]
Chr1:144510900..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x3 copy number gain See cases [RCV000050917] Chr1:146987841..148234205 [GRCh38]
Chr1:145987156..147411593 [GRCh37]
Chr1:144698513..145878217 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000050515] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145439580-148359881)x1 copy number loss See cases [RCV000050516] Chr1:145439580..148359881 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1p11.2-q22(chr1:120836007-149583533)x3 copy number gain See cases [RCV000051109] Chr1:120836007..149583533 [GRCh38]
Chr1:145451329..156102366 [GRCh37]
Chr1:144162686..154368990 [NCBI36]
Chr1:1p11.2-q22		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000051058] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x1 copy number loss Nonsyndromic microcephaly [RCV000051059]|Expressive language delay [RCV000051060]|Global developmental delay [RCV000051061]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051062]|See cases [RCV000051059] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1p12-q21.2(chr1:120836007-149583533)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051844]|See cases [RCV000051844] Chr1:120836007..149583533 [GRCh38]
Chr1:145425395..153212501 [GRCh37]
Chr1:144136752..151479125 [NCBI36]
Chr1:1p12-q21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052252] Chr1:146987841..148437125 [GRCh38]
Chr1:145986956..147909235 [GRCh37]
Chr1:144698313..146375859 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436925)x1 copy number loss See cases [RCV000052262] Chr1:146987841..148436925 [GRCh38]
Chr1:145987156..147909035 [GRCh37]
Chr1:144698513..146375659 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052264] Chr1:146987841..148328747 [GRCh38]
Chr1:146079197..147800872 [GRCh37]
Chr1:144790554..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:145439580-147036021)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052242]|See cases [RCV000052242] Chr1:145439580..147036021 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148534530)x1 copy number loss See cases [RCV000052244] Chr1:145215697..148534530 [GRCh38]
Chr1:145451329..148309094 [GRCh37]
Chr1:144162686..146675718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052245]|See cases [RCV000052245] Chr1:146987841..148437125 [GRCh38]
Chr1:145655792..147909235 [GRCh37]
Chr1:144367149..146375859 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052247] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000052248] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3 copy number gain See cases [RCV000053170] Chr1:145215697..148492647 [GRCh38]
Chr1:145388356..148216139 [GRCh37]
Chr1:144099713..146582763 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053171]|See cases [RCV000053171]|See cases [RCV000509068] Chr1:145215697..149076087 [GRCh38]
Chr1:145425395..148545520 [GRCh37]
Chr1:144136752..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053172]|See cases [RCV000053172] Chr1:145425395..148867610 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053173]|See cases [RCV000053173] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148936712 [GRCh37]
Chr1:144136752..147203336 [NCBI36]
Chr1:1q21.1-21.2		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053185] Chr1:144572470..149076087 [GRCh38]
Chr1:145746912..148752268 [GRCh37]
Chr1:144458269..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148492647)x3 copy number gain See cases [RCV000053186] Chr1:146987841..148492647 [GRCh38]
Chr1:145764367..147988684 [GRCh37]
Chr1:144475724..146455308 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000053187] Chr1:144572470..149076087 [GRCh38]
Chr1:145764368..148752268 [GRCh37]
Chr1:144475725..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053191] Chr1:145215697..149076087 [GRCh38]
Chr1:145764368..148346383 [GRCh37]
Chr1:144475725..146713007 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000053734] Chr1:146987841..148234205 [GRCh38]
Chr1:145310254..146491118 [GRCh37]
Chr1:144021611..144957742 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000053743] Chr1:146987841..148437125 [GRCh38]
Chr1:145425195..147909235 [GRCh37]
Chr1:144136552..146375859 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1 copy number loss See cases [RCV000053699] Chr1:143646745..148752268 [GRCh37]
Chr1:142438268..147018892 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1 copy number loss See cases [RCV000053725] Chr1:146987841..149343657 [GRCh38]
Chr1:144912271..147814815 [GRCh37]
Chr1:143623628..146281439 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143721526-149232481)x1 copy number loss See cases [RCV000053700] Chr1:143721526..149232481 [GRCh37]
Chr1:142513049..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:143646638-146126442)x3 copy number gain See cases [RCV000053578] Chr1:143646638..146126442 [GRCh37]
Chr1:142438161..144837799 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1 copy number loss See cases [RCV000053882] Chr1:144810725..146858488 [GRCh37]
Chr1:143456705..145325112 [NCBI36]
Chr1:1q21.1		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000133640] Chr1:145232830..148587578 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000051059] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3 copy number gain See cases [RCV000051832] Chr1:143965076..149471555 [GRCh38]
Chr1:119457515..121050554 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000050634] Chr1:146354110..148503773 [GRCh38]
Chr1:146143189..149699420 [GRCh37]
Chr1:144854546..147966044 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x1 copy number loss See cases [RCV000133790] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148436984)x3 copy number gain See cases [RCV000050346] Chr1:147035964..148436984 [GRCh38]
Chr1:146507518..147909094 [GRCh37]
Chr1:144974142..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000050689] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x4 copy number gain See cases [RCV000053172] Chr1:144572470..149076087 [GRCh38]
Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052242] Chr1:146987841..148234205 [GRCh38]
Chr1:145425395..146507577 [GRCh37]
Chr1:144136752..144974201 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1 copy number loss See cases [RCV000134191] Chr1:146354110..148503773 [GRCh38]
Chr1:145388355..149418924 [GRCh37]
Chr1:144099712..147685548 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000134219] Chr1:146964168..148572213 [GRCh38]
Chr1:146038914..147838700 [GRCh37]
Chr1:144750271..146305324 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147035964-148352079)x3 copy number gain See cases [RCV000133957] Chr1:147035964..148352079 [GRCh38]
Chr1:146507518..147824207 [GRCh37]
Chr1:144974142..146290831 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148415560)x3 copy number gain See cases [RCV000134089] Chr1:146987841..148415560 [GRCh38]
Chr1:145899359..147887713 [GRCh37]
Chr1:144610716..146354337 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000135335] Chr1:145601946..148572213 [GRCh38]
Chr1:145311043..147915048 [GRCh37]
Chr1:144022400..146381672 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137606] Chr1:146987841..148234205 [GRCh38]
Chr1:145415190..146474275 [GRCh37]
Chr1:144126547..144940899 [NCBI36]
Chr1:1q21.1		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3 copy number gain See cases [RCV000135345] Chr1:146355224..148494171 [GRCh38]
Chr1:145899339..148782879 [GRCh37]
Chr1:144610696..147049503 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3 copy number gain See cases [RCV000135353] Chr1:145338382..148599763 [GRCh38]
Chr1:145271815..148254822 [GRCh37]
Chr1:143983172..146621446 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x3 copy number gain See cases [RCV000135740] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145425395-148867610)x1 copy number loss See cases [RCV000135741] Chr1:145425395..148867610 [GRCh37]
Chr1:144136752..147134234 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x3 copy number gain See cases [RCV000135684] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000135484] Chr1:146964168..148572213 [GRCh38]
Chr1:146074031..147834140 [GRCh37]
Chr1:144785388..146300764 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x4 copy number gain See cases [RCV000135513] Chr1:146987841..148359881 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic|uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146355224-148503773)x3 copy number gain See cases [RCV000136532] Chr1:146355224..148503773 [GRCh38]
Chr1:145425395..149768855 [GRCh37]
Chr1:144136752..148035479 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:142618650-148535229)x3 copy number gain See cases [RCV000135936] Chr1:142618650..148535229 [GRCh37]
Chr1:141560173..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely benign
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000136047] Chr1:144572470..149076087 [GRCh38]
Chr1:145799556..148867640 [GRCh37]
Chr1:144510913..147134264 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 copy number gain See cases [RCV000136866] Chr1:143515074..149076087 [GRCh38]
Chr1:145425395..149091187 [GRCh37]
Chr1:144136752..147357811 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3 copy number gain See cases [RCV000137646] Chr1:144572470..149076087 [GRCh38]
Chr1:145788863..148809863 [GRCh37]
Chr1:144500220..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000137559] Chr1:145215697..149076087 [GRCh38]
Chr1:146053414..148535229 [GRCh37]
Chr1:144764771..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000137435] Chr1:143515074..149076087 [GRCh38]
Chr1:145626237..149244468 [GRCh37]
Chr1:144337594..147511092 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137526] Chr1:146987841..148355961 [GRCh38]
Chr1:145655992..147828089 [GRCh37]
Chr1:144367349..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000137600] Chr1:146987841..148355961 [GRCh38]
Chr1:145804679..147828089 [GRCh37]
Chr1:144516036..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000137231] Chr1:146987841..148234205 [GRCh38]
Chr1:146143189..147721869 [GRCh37]
Chr1:144854546..146188493 [NCBI36]
Chr1:1q21.1-21.2		 uncertain significance
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138054] Chr1:146987841..148355961 [GRCh38]
Chr1:146053414..147828089 [GRCh37]
Chr1:144764771..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148352079)x3 copy number gain See cases [RCV000137889] Chr1:147029419..148352079 [GRCh38]
Chr1:146500972..147824207 [GRCh37]
Chr1:144967596..146290831 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147002657-148355961)x1 copy number loss See cases [RCV000137764] Chr1:147002657..148355961 [GRCh38]
Chr1:146474216..147828089 [GRCh37]
Chr1:144940840..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147071299-148355961)x1 copy number loss See cases [RCV000137947] Chr1:147071299..148355961 [GRCh38]
Chr1:146542843..147828089 [GRCh37]
Chr1:145009467..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148494217)x1 copy number loss See cases [RCV000138709] Chr1:146354110..148494217 [GRCh38]
Chr1:145626237..149453964 [GRCh37]
Chr1:144337594..147720588 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3 copy number gain See cases [RCV000138851] Chr1:147036093..148352084 [GRCh38]
Chr1:146507649..147824212 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:147156522-148352084)x3 copy number gain See cases [RCV000138854] Chr1:147156522..148352084 [GRCh38]
Chr1:146628101..147824212 [GRCh37]
Chr1:145094725..146290836 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145232830-148587578)x3 copy number gain See cases [RCV000138437] Chr1:145232830..148587578 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x4 copy number gain See cases [RCV000138438] Chr1:145215697..149076087 [GRCh38]
Chr1:146500972..148535229 [GRCh37]
Chr1:144967596..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x1 copy number loss See cases [RCV000138516] Chr1:146987841..148352084 [GRCh38]
Chr1:145415156..147824212 [GRCh37]
Chr1:144126513..146290836 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148352084)x3 copy number gain See cases [RCV000138637] Chr1:146987841..148352084 [GRCh38]
Chr1:145799556..147824212 [GRCh37]
Chr1:144510913..146290836 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000138893] Chr1:146987841..148355961 [GRCh38]
Chr1:145723321..147828089 [GRCh37]
Chr1:144434678..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000139942] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147830830 [GRCh37]
Chr1:144816527..146297454 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145751815-148000664)x3 copy number gain See cases [RCV000140155] Chr1:145751815..148000664 [GRCh37]
Chr1:144463172..146467288 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149563337)x1 copy number loss See cases [RCV000139762] Chr1:143515074..149563337 [GRCh38]
Chr1:145415156..149433207 [GRCh37]
Chr1:144126513..147699831 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145601946-148572213)x1 copy number loss See cases [RCV000141206] Chr1:145601946..148572213 [GRCh38]
Chr1:145376675..147860552 [GRCh37]
Chr1:144088032..146327176 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141344] Chr1:146964168..148572213 [GRCh38]
Chr1:146053414..147860552 [GRCh37]
Chr1:144764771..146327176 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000140902] Chr1:146964168..148572213 [GRCh38]
Chr1:145932455..147385641 [GRCh37]
Chr1:144643812..145852265 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145415190-148809863)x3 copy number gain See cases [RCV000140695] Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000140697] Chr1:144572470..149076087 [GRCh38]
Chr1:145415190..148809863 [GRCh37]
Chr1:144126547..147076487 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000141896] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147830830 [GRCh37]
Chr1:144813147..146297454 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000141980] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147844758 [GRCh37]
Chr1:144755070..146311382 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000141560] Chr1:143515074..149076087 [GRCh38]
Chr1:145747242..149155026 [GRCh37]
Chr1:144458599..147421650 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145888925-148020200)x1 copy number loss See cases [RCV000141688] Chr1:145888925..148020200 [GRCh37]
Chr1:144600282..146486824 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142511] Chr1:145215697..149076087 [GRCh38]
Chr1:145655992..148545520 [GRCh37]
Chr1:144367349..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000142480] Chr1:145215697..149076087 [GRCh38]
Chr1:146507649..148545664 [GRCh37]
Chr1:144974273..146812288 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x3 copy number gain See cases [RCV000142509] Chr1:146354110..148503773 [GRCh38]
Chr1:145425395..149699420 [GRCh37]
Chr1:144136752..147966044 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000142212] Chr1:146964168..148572213 [GRCh38]
Chr1:146096701..147832190 [GRCh37]
Chr1:144808058..146298814 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000142030] Chr1:146964168..148572213 [GRCh38]
Chr1:146101790..147897962 [GRCh37]
Chr1:144813147..146364586 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142100] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147830830 [GRCh37]
Chr1:144969915..146297454 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000142150] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819294 [GRCh37]
Chr1:144969915..146285918 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147016574-149087283)x3 copy number gain See cases [RCV000142102] Chr1:147016574..149087283 [GRCh38]
Chr1:146488131..147995251 [GRCh37]
Chr1:144954755..146461875 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.2(chr1:147773472-148355961)x3 copy number gain See cases [RCV000143021] Chr1:147773472..148355961 [GRCh38]
Chr1:147245576..147828089 [GRCh37]
Chr1:145712200..146294713 [NCBI36]
Chr1:1q21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147054748-148355961)x3 copy number gain See cases [RCV000142921] Chr1:147054748..148355961 [GRCh38]
Chr1:146526310..147828089 [GRCh37]
Chr1:144992934..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142804] Chr1:145215697..149076087 [GRCh38]
Chr1:146526310..148535229 [GRCh37]
Chr1:144992934..146801853 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148355961)x1 copy number loss See cases [RCV000142561] Chr1:147029419..148355961 [GRCh38]
Chr1:146500972..147828089 [GRCh37]
Chr1:144967596..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000142666] Chr1:145215697..149076087 [GRCh38]
Chr1:146571304..148545520 [GRCh37]
Chr1:145037928..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148355961)x1 copy number loss See cases [RCV000142798] Chr1:146987841..148355961 [GRCh38]
Chr1:145626237..147828089 [GRCh37]
Chr1:144337594..146294713 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147026741-149087283)x3 copy number gain See cases [RCV000143372] Chr1:147026741..149087283 [GRCh38]
Chr1:146498298..147828510 [GRCh37]
Chr1:144964922..146295134 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143304] Chr1:146964168..148572213 [GRCh38]
Chr1:146145424..147929323 [GRCh37]
Chr1:144856781..146395947 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143128] Chr1:146964168..148572213 [GRCh38]
Chr1:145886339..147926347 [GRCh37]
Chr1:144597696..146392971 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000148082] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147031738-149087283)x3 copy number gain See cases [RCV000143769] Chr1:147031738..149087283 [GRCh38]
Chr1:146503291..147819815 [GRCh37]
Chr1:144969915..146286439 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148050] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148051]|See cases [RCV000509064] Chr1:146987841..148436984 [GRCh38]
Chr1:145655992..147909094 [GRCh37]
Chr1:144367349..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 copy number loss See cases [RCV000148052] Chr1:143515074..149076087 [GRCh38]
Chr1:145655992..149232481 [GRCh37]
Chr1:144367349..147499105 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148054] Chr1:146987841..148436984 [GRCh38]
Chr1:145987156..147909094 [GRCh37]
Chr1:144698513..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143745] Chr1:146964168..148572213 [GRCh38]
Chr1:146105170..147929323 [GRCh37]
Chr1:144816527..146395947 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x3 copy number gain See cases [RCV000148055] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148057] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146999330-149087283)x4 copy number gain See cases [RCV000143488] Chr1:146999330..149087283 [GRCh38]
Chr1:146470888..147830903 [GRCh37]
Chr1:144937512..146297527 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143533] Chr1:146964168..148572213 [GRCh38]
Chr1:145895747..147831170 [GRCh37]
Chr1:144607104..146297794 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143646] Chr1:146964168..148572213 [GRCh38]
Chr1:146043713..147830830 [GRCh37]
Chr1:144755070..146297454 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147978640)x3 copy number gain See cases [RCV000143585] Chr1:145885646..147978640 [GRCh37]
Chr1:144597003..146445264 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x3 copy number gain See cases [RCV000143509] Chr1:146964168..148572213 [GRCh38]
Chr1:145932454..147819294 [GRCh37]
Chr1:144643811..146285918 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1 copy number loss See cases [RCV000143612] Chr1:146964168..148572213 [GRCh38]
Chr1:145888925..147926347 [GRCh37]
Chr1:144600282..146392971 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000148155] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000148163] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000148176] Chr1:146987841..148436984 [GRCh38]
Chr1:145425395..147909094 [GRCh37]
Chr1:144136752..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss See cases [RCV000148183] Chr1:145215697..149076087 [GRCh38]
Chr1:145987156..148545520 [GRCh37]
Chr1:144698513..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000050688] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545520 [GRCh37]
Chr1:144854546..146812144 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052267] Chr1:146987841..148328747 [GRCh38]
Chr1:146083024..147800872 [GRCh37]
Chr1:144794381..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x1 copy number loss See cases [RCV000052269] Chr1:146987841..148444397 [GRCh38]
Chr1:146096433..147916499 [GRCh37]
Chr1:144807790..146383123 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148234205)x1 copy number loss See cases [RCV000052271] Chr1:146987841..148234205 [GRCh38]
Chr1:146096433..147400685 [GRCh37]
Chr1:144807790..145867309 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148328747)x1 copy number loss See cases [RCV000052272] Chr1:146987841..148328747 [GRCh38]
Chr1:146096433..147800872 [GRCh37]
Chr1:144807790..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x3 copy number gain See cases [RCV000052276] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148437125)x1 copy number loss See cases [RCV000052277] Chr1:146987841..148437125 [GRCh38]
Chr1:146142989..147909235 [GRCh37]
Chr1:144854346..146375859 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3 copy number gain See cases [RCV000052282] Chr1:146987841..148359881 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1 copy number loss See cases [RCV000052283] Chr1:146987841..148436984 [GRCh38]
Chr1:146143189..147909094 [GRCh37]
Chr1:144854546..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052297]|See cases [RCV000052297] Chr1:145215697..149076087 [GRCh38]
Chr1:146143189..148545535 [GRCh37]
Chr1:144854546..146812159 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148167468)x1 copy number loss See cases [RCV000052299] Chr1:147029419..148167468 [GRCh38]
Chr1:146500972..147711813 [GRCh37]
Chr1:144967596..146178437 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147029419-148342687)x1 copy number loss See cases [RCV000052303] Chr1:147029419..148342687 [GRCh38]
Chr1:146500972..147814815 [GRCh37]
Chr1:144967596..146281439 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1 copy number loss See cases [RCV000052306] Chr1:147093177..148262736 [GRCh38]
Chr1:146564743..147735011 [GRCh37]
Chr1:145031367..146201635 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148287692)x3 copy number gain See cases [RCV000053192] Chr1:146987841..148287692 [GRCh38]
Chr1:146083023..147759798 [GRCh37]
Chr1:144794380..146226422 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148444397)x3 copy number gain See cases [RCV000053193] Chr1:146987841..148444397 [GRCh38]
Chr1:146083024..147916499 [GRCh37]
Chr1:144794381..146383123 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3 copy number gain See cases [RCV000053203] Chr1:145215697..149076087 [GRCh38]
Chr1:146142989..148545676 [GRCh37]
Chr1:144854346..146812300 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147055789-148328747)x3 copy number gain See cases [RCV000053204] Chr1:147055789..148328747 [GRCh38]
Chr1:146527351..147800872 [GRCh37]
Chr1:144993975..146267496 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148273480)x3 copy number gain See cases [RCV000053205] Chr1:147099720..148273480 [GRCh38]
Chr1:146571304..147745610 [GRCh37]
Chr1:145037928..146212234 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:147099720-148436984)x3 copy number gain See cases [RCV000053206] Chr1:147099720..148436984 [GRCh38]
Chr1:146571304..147909094 [GRCh37]
Chr1:145037928..146375718 [NCBI36]
Chr1:1q21.1-21.2		 pathogenic|likely pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x1 copy number loss See cases [RCV000141565] Chr1:144572470..149076087 [GRCh38]
Chr1:146500972..148809863 [GRCh37]
Chr1:144967596..147076487 [NCBI36]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145416056-146089268)x3 copy number gain See cases [RCV000515605] Chr1:145416056..146089268 [GRCh37]
Chr1:1q21.1		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144842544-147832190)x1 copy number loss not provided [RCV001005133] Chr1:144842544..147832190 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148665189)x1 copy number loss not provided [RCV001005134] Chr1:144884331..148665189 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145015937-147416122) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767544] Chr1:145015937..147416122 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145740598-147825678) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767826] Chr1:145740598..147825678 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145765424-147142037) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767546] Chr1:145765424..147142037 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144833672-148870387)x3 copy number gain See cases [RCV000447303] Chr1:144833672..148870387 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147819294)x3 copy number gain See cases [RCV000446850] Chr1:146043713..147819294 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145886339-147897962)x1 copy number loss See cases [RCV000447310] Chr1:145886339..147897962 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146016526-147830830)x3 copy number gain See cases [RCV000447628] Chr1:146016526..147830830 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885645-147947839)x1 copy number loss See cases [RCV000446765] Chr1:145885645..147947839 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147856007)x1 copy number loss See cases [RCV000445872] Chr1:145895746..147856007 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss See cases [RCV000445777] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000448739] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1(chr1:145388004-146535353)x1 copy number loss See cases [RCV000448068] Chr1:145388004..146535353 [GRCh37]
Chr1:1q21.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147844758)x3 copy number gain See cases [RCV000512098] Chr1:145885646..147844758 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147929323)x1 copy number loss See cases [RCV000510416] Chr1:146043713..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147929323)x3 copy number gain See cases [RCV000510318] Chr1:145808308..147929323 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145885646-147947839)x3 copy number gain See cases [RCV000510580] Chr1:145885646..147947839 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144368497-148636756)x1 copy number loss See cases [RCV000511406] Chr1:144368497..148636756 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-148893164)x3 copy number gain See cases [RCV000511678] Chr1:145895746..148893164 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144371838-148832359)x1 copy number loss See cases [RCV000511474] Chr1:144371838..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic|uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147897962)x1 copy number loss See cases [RCV000511760] Chr1:146043713..147897962 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144880315-148832359)x1 copy number loss See cases [RCV000511224] Chr1:144880315..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145927662-147830830)x4 copy number gain See cases [RCV000511031] Chr1:145927662..147830830 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146003044-147832190)x3 copy number gain See cases [RCV000510735] Chr1:146003044..147832190 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146023923-147929323)x1 copy number loss See cases [RCV000510977] Chr1:146023923..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147995251)x3 copy number gain See cases [RCV000512287] Chr1:145895746..147995251 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147926347)x3 copy number gain See cases [RCV000512412] Chr1:145808308..147926347 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144549794-147978640)x3 copy number gain not provided [RCV000684622] Chr1:144549794..147978640 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144842544-148832359)x1 copy number loss not provided [RCV000684624] Chr1:144842544..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144884331-148514236)x1 copy number loss not provided [RCV000684625] Chr1:144884331..148514236 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145068491-147929323)x1 copy number loss not provided [RCV000684626] Chr1:145068491..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145376052-147819815)x3 copy number gain not provided [RCV000684628] Chr1:145376052..147819815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145733443-147929323)x1 copy number loss not provided [RCV000684633] Chr1:145733443..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145764393-147830830)x1 copy number loss not provided [RCV000684634] Chr1:145764393..147830830 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145769108-147929323)x1 copy number loss not provided [RCV000684635] Chr1:145769108..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770625-148514899)x1 copy number loss not provided [RCV000684636] Chr1:145770625..148514899 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-147926347)x1 copy number loss not provided [RCV000684637] Chr1:145770679..147926347 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770679-148519140)x1 copy number loss not provided [RCV000684638] Chr1:145770679..148519140 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145784611-148519963)x1 copy number loss not provided [RCV000684639] Chr1:145784611..148519963 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786289-147830830)x1 copy number loss not provided [RCV000684640] Chr1:145786289..147830830 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145786360-148514899)x1 copy number loss not provided [RCV000684641] Chr1:145786360..148514899 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792037-147929323)x1 copy number loss not provided [RCV000684642] Chr1:145792037..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148846369)x1 copy number loss not provided [RCV000684643] Chr1:145792051..148846369 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147897962)x1 copy number loss not provided [RCV000684644] Chr1:145895746..147897962 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895746-147926347)x1 copy number loss not provided [RCV000684645] Chr1:145895746..147926347 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146030328-147897962)x1 copy number loss not provided [RCV000684646] Chr1:146030328..147897962 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147898062)x1 copy number loss not provided [RCV000684647] Chr1:146043713..147898062 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_145430995)_(148257619_?)del deletion Schizophrenia [RCV000754126] Chr1:145430995..148257619 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145430995)_(148427734_?)del deletion Schizophrenia [RCV000754127] Chr1:145430995..148427734 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.(?_145580669)_(149095000_?)del deletion Schizophrenia [RCV000754128] Chr1:145580669..149095000 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
Single allele duplication Schizophrenia [RCV000754132] Chr1:145601945..148889374 [GRCh38]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1(chr1:145625979-146089268)x3 copy number gain not provided [RCV000736676] Chr1:145625979..146089268 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145101177-146508774)x3 copy number gain not provided [RCV000749159] Chr1:145101177..146508774 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1-21.2(chr1:145395440-148242053)x3 copy number gain not provided [RCV000749164] Chr1:145395440..148242053 [GRCh37]
Chr1:1q21.1-21.2		 uncertain significance
GRCh37/hg19 1q21.1(chr1:145594220-146089268)x3 copy number gain not provided [RCV000749165] Chr1:145594220..146089268 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1(chr1:145599038-146089268)x3 copy number gain not provided [RCV000749170] Chr1:145599038..146089268 [GRCh37]
Chr1:1q21.1		 benign
GRCh37/hg19 1q21.1-21.2(chr1:145804679-147735815)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000856632] Chr1:145804679..147735815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145103956-147220326) copy number gain Chromosome 1q21.1 duplication syndrome [RCV000767545] Chr1:145103956..147220326 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144823069-148839976)x3 copy number gain not provided [RCV000848311] Chr1:144823069..148839976 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
Single allele duplication Growth abnormality [RCV000787430] Chr1:145461209..146467333 [GRCh37]
Chr1:1q21.1		 uncertain significance
Single allele deletion Chromosome 1q21.1 deletion syndrome [RCV000844901] Chr1:145723417..147897962 [GRCh37]
Chr1:1q21.1-21.2		 not provided
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147845170)x4 copy number gain not provided [RCV000849214] Chr1:143940435..147845170 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143940435-147823872)x3 copy number gain not provided [RCV001005132] Chr1:143940435..147823872 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145053968-148823133)x3 copy number gain not provided [RCV001005135] Chr1:145053968..148823133 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144887445-148801960)x1 copy number loss not provided [RCV001260118] Chr1:144887445..148801960 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144849457-147819815)x3 copy number gain not provided [RCV001260124] Chr1:144849457..147819815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265) copy number gain Hypoplastic left heart syndrome 1 [RCV002280613] Chr1:145792051..148001265 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266) copy number gain Delayed speech and language development [RCV001291985] Chr1:145818702..149378266 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207) copy number gain Mayer-Rokitansky-Kuster-Hauser syndrome [RCV001291962] Chr1:145818702..147824207 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NC_000001.11:g.145601946_148597425del deletion Radial aplasia-thrombocytopenia syndrome [RCV000853559] Chr1:145601946..148597425 [GRCh38]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV001801176] Chr1:146022474..147599371 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145768022-148020154) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280721] Chr1:145768022..148020154 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043714-148514899)x1 copy number loss not provided [RCV001827839] Chr1:146043714..148514899 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
Single allele duplication Chromosome 1q21.1 duplication syndrome [RCV002227717] Chr1:147050137..148438699 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145157447-148016122)x1 copy number loss See cases [RCV002287572] Chr1:145157447..148016122 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145808308-147819294) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280722] Chr1:145808308..147819294 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830) copy number gain Chromosome 1q21.1 duplication syndrome [RCV002280723] Chr1:146043713..147830830 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145074728-148832359)x1 copy number loss not provided [RCV002474588] Chr1:145074728..148832359 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145768023-147929323)x1 copy number loss not provided [RCV002474575] Chr1:145768023..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145770680-147929323)x1 copy number loss not provided [RCV002474558] Chr1:145770680..147929323 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145895747-147962980)x1 copy number loss not provided [RCV002473948] Chr1:145895747..147962980 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_001385469.3(NBPF11):c.229T>C (p.Phe77Leu) single nucleotide variant not specified [RCV004188300] Chr1:148124948 [GRCh38]
Chr1:147597231 [GRCh37]
Chr1:1q21.2		 uncertain significance
GRCh37/hg19 1q21.1-21.2(chr1:145365287-147416212)x1 copy number loss not provided [RCV002511625] Chr1:145365287..147416212 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147594599)x1 copy number loss Chromosome 1q21.1 deletion syndrome [RCV003329511] Chr1:145883619..147594599 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145883619-147817082)x3 copy number gain Chromosome 1q21.1 deletion syndrome [RCV003329552] Chr1:145883619..147817082 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146057275-147581622)x1 copy number loss not provided [RCV003326784] Chr1:146057275..147581622 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145311525-147509544)x1 copy number loss not provided [RCV003483316] Chr1:145311525..147509544 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145769109-148216113)x1 copy number loss not provided [RCV003483360] Chr1:145769109..148216113 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641) copy number loss 1q21.1 microdeletion syndrome (BP3-BP4, distal) [RCV003448604] Chr1:146872717..148353641 [GRCh38]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043714-147819815)x3 copy number gain not provided [RCV003484037] Chr1:146043714..147819815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
Single allele single nucleotide variant not provided [RCV003406791] Chr1:146055392 [GRCh37]
Chr1:1q21.1		 likely benign
NM_001385469.3(NBPF11):c.1983C>T (p.Tyr661=) single nucleotide variant not provided [RCV003408820] Chr1:148108525 [GRCh38]
Chr1:147580810 [GRCh37]
Chr1:1q21.2		 likely benign
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146043713-147830830)x1 copy number loss not specified [RCV003986595] Chr1:146043713..147830830 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:146023922-147831170)x3 copy number gain not specified [RCV003986373] Chr1:146023922..147831170 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144055163-149664300)x3 copy number gain See cases [RCV004442772] Chr1:144055163..149664300 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:145421717-148193211) copy number loss Autism spectrum disorder [RCV003885439] Chr1:145421717..148193211 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:144055163-148789835)x3 copy number gain See cases [RCV004442790] Chr1:144055163..148789835 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
NM_001385469.3(NBPF11):c.1874A>C (p.Asp625Ala) single nucleotide variant not specified [RCV004470441] Chr1:148108634 [GRCh38]
Chr1:147580919 [GRCh37]
Chr1:1q21.2		 likely benign
NM_001385469.3(NBPF11):c.1808G>A (p.Arg603Gln) single nucleotide variant not specified [RCV004470436] Chr1:148109329 [GRCh38]
Chr1:147581616 [GRCh37]
Chr1:1q21.2		 likely benign
NM_001385469.3(NBPF11):c.1883A>G (p.Glu628Gly) single nucleotide variant not specified [RCV004470446] Chr1:148108625 [GRCh38]
Chr1:147580910 [GRCh37]
Chr1:1q21.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3946
Count of miRNA genes:882
Interacting mature miRNAs:1002
Transcripts:ENST00000339388, ENST00000369323, ENST00000401009, ENST00000401010, ENST00000479926, ENST00000603515, ENST00000604393, ENST00000604517, ENST00000604894, ENST00000604906, ENST00000604938, ENST00000605317
Prediction methods:Microtar, 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.

Markers in Region
RH66976  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q21.1UniSTS
RH80466  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1q21.1UniSTS
AL033815  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q21.1UniSTS
G34947  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q21.1UniSTS


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 77 12 294 11 167 11 412 27 70 17 252 337 1 58 200
Low 2274 2853 1190 422 1506 264 3878 2108 3584 165 1008 1125 169 1146 2560 4
Below cutoff 119 102 28 58 10 1 28

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001101663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_169629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC239803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF379606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF419617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI552657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM802549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP873295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX842679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN421512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB062330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000613531   ⟹   ENSP00000477874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1148,104,583 - 148,137,802 (-)Ensembl
RefSeq Acc Id: ENST00000614015   ⟹   ENSP00000484213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1148,102,047 - 148,127,288 (-)Ensembl
RefSeq Acc Id: ENST00000614506   ⟹   ENSP00000478618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1148,102,151 - 148,151,988 (-)Ensembl
RefSeq Acc Id: ENST00000614785   ⟹   ENSP00000479429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1148,102,046 - 148,127,003 (-)Ensembl
RefSeq Acc Id: ENST00000615281   ⟹   ENSP00000477509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1148,102,151 - 148,152,322 (-)Ensembl
RefSeq Acc Id: ENST00000682118   ⟹   ENSP00000507808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1148,102,151 - 148,152,281 (-)Ensembl
RefSeq Acc Id: NM_001101663   ⟹   NP_001095133
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
GRCh371147,574,323 - 147,624,601 (-)NCBI
CHM1_11149,470,172 - 149,503,939 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385468   ⟹   NP_001372397
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385469   ⟹   NP_001372398
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385470   ⟹   NP_001372399
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385471   ⟹   NP_001372400
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385472   ⟹   NP_001372401
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385473   ⟹   NP_001372402
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385474   ⟹   NP_001372403
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385475   ⟹   NP_001372404
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385476   ⟹   NP_001372405
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385477   ⟹   NP_001372406
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385478   ⟹   NP_001372407
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385479   ⟹   NP_001372408
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385480   ⟹   NP_001372409
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NM_183372   ⟹   NP_899228
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
GRCh371146,032,542 - 146,082,633 (-)RGD
Build 361144,743,899 - 144,779,602 (-)NCBI Archive
Celera1120,062,065 - 120,081,102 (+)RGD
HuRef1120,818,986 - 120,827,542 (-)NCBI
CHM1_11149,470,172 - 149,520,316 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046188
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
GRCh371147,574,323 - 147,624,601 (-)NCBI
HuRef1120,818,986 - 120,827,542 (-)NCBI
CHM1_11149,470,172 - 149,520,316 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110864
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
CHM1_11149,470,172 - 149,520,316 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169628
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
RefSeq Acc Id: NR_169629
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,102,151 - 148,152,281 (-)NCBI
T2T-CHM13v2.01146,655,132 - 146,705,256 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_899228   ⟸   NM_183372
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001095133   ⟸   NM_001101663
- Peptide Label: isoform b
- UniProtKB: B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q86T75 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000477874   ⟸   ENST00000613531
RefSeq Acc Id: ENSP00000479429   ⟸   ENST00000614785
RefSeq Acc Id: ENSP00000478618   ⟸   ENST00000614506
RefSeq Acc Id: ENSP00000484213   ⟸   ENST00000614015
RefSeq Acc Id: ENSP00000477509   ⟸   ENST00000615281
RefSeq Acc Id: NP_001372397   ⟸   NM_001385468
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372409   ⟸   NM_001385480
- Peptide Label: isoform c
- UniProtKB: A0A087WTH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372398   ⟸   NM_001385469
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372407   ⟸   NM_001385478
- Peptide Label: isoform c
- UniProtKB: A0A087WTH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372401   ⟸   NM_001385472
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372400   ⟸   NM_001385471
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372405   ⟸   NM_001385476
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372399   ⟸   NM_001385470
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372404   ⟸   NM_001385475
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372406   ⟸   NM_001385477
- Peptide Label: isoform c
- UniProtKB: A0A087WTH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372403   ⟸   NM_001385474
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372408   ⟸   NM_001385479
- Peptide Label: isoform c
- UniProtKB: A0A087WTH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001372402   ⟸   NM_001385473
- Peptide Label: isoform b
- UniProtKB: Q86T75 (UniProtKB/Swiss-Prot),   B7Z7R4 (UniProtKB/Swiss-Prot),   B1AKG1 (UniProtKB/Swiss-Prot),   Q5RGN0 (UniProtKB/Swiss-Prot),   Q3BBV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000507808   ⟸   ENST00000682118
Protein Domains
Olduvai

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86T75-F1-model_v2 AlphaFold Q86T75 1-865 view protein structure

Promoters
RGD ID:6856890
Promoter ID:EPDNEW_H1610
Type:multiple initiation site
Name:NBPF11_3
Description:NBPF member 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1611  EPDNEW_H1612  EPDNEW_H1619  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,131,186 - 148,131,246EPDNEW
RGD ID:6856892
Promoter ID:EPDNEW_H1611
Type:initiation region
Name:NBPF11_4
Description:NBPF member 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1610  EPDNEW_H1612  EPDNEW_H1619  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,151,986 - 148,152,046EPDNEW
RGD ID:6856894
Promoter ID:EPDNEW_H1612
Type:initiation region
Name:NBPF11_1
Description:NBPF member 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1610  EPDNEW_H1611  EPDNEW_H1619  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381148,152,313 - 148,152,373EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC NBPF11 COSMIC
Ensembl Genes ENSG00000263956 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000613531 ENTREZGENE
  ENST00000613531.1 UniProtKB/TrEMBL
  ENST00000614015 ENTREZGENE
  ENST00000614015.4 UniProtKB/Swiss-Prot
  ENST00000614506 ENTREZGENE
  ENST00000614506.4 UniProtKB/TrEMBL
  ENST00000615281 ENTREZGENE
  ENST00000615281.4 UniProtKB/Swiss-Prot
  ENST00000682118 ENTREZGENE
  ENST00000682118.1 UniProtKB/Swiss-Prot
GTEx ENSG00000263956 GTEx
HGNC ID HGNC:31993 ENTREZGENE
Human Proteome Map NBPF11 Human Proteome Map
InterPro Olduvai_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:200030 UniProtKB/Swiss-Prot
NCBI Gene 200030 ENTREZGENE
OMIM 614001 OMIM
PANTHER NEUROBLASTOMA BREAKPOINT FAMILY MEMBER 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUROBLASTOMA BREAKPOINT FAMILY MEMBER 4-RELATED UniProtKB/TrEMBL
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Olduvai UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671291 PharmGKB
PROSITE NBPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF1220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTH4 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WUF5_HUMAN UniProtKB/TrEMBL
  B1AKG1 ENTREZGENE
  B7Z7R4 ENTREZGENE
  L8ECP6_HUMAN UniProtKB/TrEMBL
  NBPFB_HUMAN UniProtKB/Swiss-Prot
  Q3BBV4 ENTREZGENE, UniProtKB/TrEMBL
  Q5RGN0 ENTREZGENE
  Q86T75 ENTREZGENE
UniProt Secondary B1AKG1 UniProtKB/Swiss-Prot
  B7Z7R4 UniProtKB/Swiss-Prot
  Q5RGN0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 NBPF11  NBPF member 11    neuroblastoma breakpoint family member 11  Symbol and/or name change 5135510 APPROVED
2015-11-24 NBPF11  neuroblastoma breakpoint family member 11    neuroblastoma breakpoint family, member 11  Symbol and/or name change 5135510 APPROVED
2015-05-15 NBPF11  neuroblastoma breakpoint family, member 11  NBPF11  neuroblastoma breakpoint family, member 11  Data merged from RGD:2302123 737654 PROVISIONAL
2011-07-27 NBPF11  neuroblastoma breakpoint family, member 11  LOC200030  neuroblastoma breakpoint family, member 11-like  Symbol and/or name change 5135510 APPROVED