NBPF6 (NBPF member 6) - Rat Genome Database

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Gene: NBPF6 (NBPF member 6) Homo sapiens
Analyze
No known orthologs.
Symbol: NBPF6
Name: NBPF member 6
RGD ID: 1602598
HGNC Page HGNC:31988
Description: Predicted to be located in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: neuroblastoma breakpoint family member 6; neuroblastoma breakpoint family, member 6
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Related Pseudogenes: LOC105369140   LOC105369199   NBPF22P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381108,421,491 - 108,471,920 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1108,450,282 - 108,471,920 (+)EnsemblGRCh38hg38GRCh38
GRCh371108,992,965 - 109,014,542 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361108,794,433 - 108,814,783 (+)NCBINCBI36Build 36hg18NCBI36
Celera581,478,296 - 81,483,774 (+)NCBICelera
Cytogenetic Map1p13.3NCBI
T2T-CHM13v2.01108,454,038 - 108,505,300 (+)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
Autism  (IAGP)
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:12477932   PMID:16079250   PMID:22973535   PMID:28986522   PMID:32296183  


Genomics

Variants

.
Variants in NBPF6
22 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2		 pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 copy number loss See cases [RCV000053881] Chr1:106074587..110144290 [GRCh38]
Chr1:106617209..110686912 [GRCh37]
Chr1:106418732..110488435 [NCBI36]
Chr1:1p21.1-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 copy number loss See cases [RCV000135333] Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2		 pathogenic
GRCh38/hg38 1p13.3(chr1:108268404-108425912)x3 copy number gain See cases [RCV000134203] Chr1:108268404..108425912 [GRCh38]
Chr1:108811026..108968534 [GRCh37]
Chr1:108612549..108770057 [NCBI36]
Chr1:1p13.3		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 1p13.3(chr1:108246465-108425912)x3 copy number gain See cases [RCV000135042] Chr1:108246465..108425912 [GRCh38]
Chr1:108789087..108968534 [GRCh37]
Chr1:108590610..108770057 [NCBI36]
Chr1:1p13.3		 benign
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_001143988.2(NBPF6):c.1495A>G (p.Ile499Val) single nucleotide variant not specified [RCV004282416] Chr1:108465259 [GRCh38]
Chr1:109007881 [GRCh37]
Chr1:1p13.3		 likely benign
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 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001143988.2(NBPF6):c.1861G>A (p.Ala621Thr) single nucleotide variant not specified [RCV004316657] Chr1:108467651 [GRCh38]
Chr1:109010273 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 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.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2		 likely pathogenic
GRCh37/hg19 1p13.3(chr1:108794533-108995488)x1 copy number loss not provided [RCV000749135] Chr1:108794533..108995488 [GRCh37]
Chr1:1p13.3		 benign
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3		 likely pathogenic
Single allele deletion not provided [RCV000844956] Chr1:108926313..111266497 [GRCh37]
Chr1:1p13.3		 not provided
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3		 pathogenic
GRCh37/hg19 1p13.3(chr1:108769288-109425488)x3 copy number gain not provided [RCV001258447] Chr1:108769288..109425488 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1 copy number loss not provided [RCV001827629] Chr1:108346477..110177123 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
NC_000001.10:g.(?_108679275)_(109493059_?)del deletion not provided [RCV003122418] Chr1:108679275..109493059 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.64C>G (p.Gln22Glu) single nucleotide variant not specified [RCV004184797] Chr1:108450665 [GRCh38]
Chr1:108993287 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001143988.2(NBPF6):c.89A>C (p.Glu30Ala) single nucleotide variant not specified [RCV004187223] Chr1:108450690 [GRCh38]
Chr1:108993312 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.133A>T (p.Thr45Ser) single nucleotide variant not specified [RCV004246867] Chr1:108450734 [GRCh38]
Chr1:108993356 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001143988.2(NBPF6):c.1771C>T (p.Arg591Cys) single nucleotide variant not specified [RCV004086333] Chr1:108467561 [GRCh38]
Chr1:109010183 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1910T>C (p.Ile637Thr) single nucleotide variant not specified [RCV004090761] Chr1:108470631 [GRCh38]
Chr1:109013253 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1436C>T (p.Ala479Val) single nucleotide variant not specified [RCV004118723] Chr1:108465200 [GRCh38]
Chr1:109007822 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1481G>A (p.Arg494Gln) single nucleotide variant not specified [RCV004223259] Chr1:108465245 [GRCh38]
Chr1:109007867 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1896G>C (p.Arg632Ser) single nucleotide variant not specified [RCV004087656] Chr1:108470617 [GRCh38]
Chr1:109013239 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1538G>C (p.Cys513Ser) single nucleotide variant not specified [RCV004237731] Chr1:108465302 [GRCh38]
Chr1:109007924 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1523C>T (p.Thr508Ile) single nucleotide variant not specified [RCV004211413] Chr1:108465287 [GRCh38]
Chr1:109007909 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.31G>A (p.Glu11Lys) single nucleotide variant not specified [RCV004208237] Chr1:108450632 [GRCh38]
Chr1:108993254 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1740C>A (p.Asn580Lys) single nucleotide variant not specified [RCV004172427] Chr1:108467530 [GRCh38]
Chr1:109010152 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1772G>A (p.Arg591His) single nucleotide variant not specified [RCV004220511] Chr1:108467562 [GRCh38]
Chr1:109010184 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001143988.2(NBPF6):c.1892A>G (p.Glu631Gly) single nucleotide variant not specified [RCV004085840] Chr1:108470613 [GRCh38]
Chr1:109013235 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001143988.2(NBPF6):c.1896G>T (p.Arg632Ser) single nucleotide variant not specified [RCV004255298] Chr1:108470617 [GRCh38]
Chr1:109013239 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1591C>T (p.Arg531Trp) single nucleotide variant not specified [RCV004248643] Chr1:108465355 [GRCh38]
Chr1:109007977 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.73C>T (p.Arg25Cys) single nucleotide variant not specified [RCV004247996] Chr1:108450674 [GRCh38]
Chr1:108993296 [GRCh37]
Chr1:1p13.3		 likely benign
NM_001143988.2(NBPF6):c.1797G>C (p.Lys599Asn) single nucleotide variant not specified [RCV004365501] Chr1:108467587 [GRCh38]
Chr1:109010209 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1696C>T (p.Pro566Ser) single nucleotide variant not specified [RCV004470768] Chr1:108467486 [GRCh38]
Chr1:109010108 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.1849G>T (p.Ala617Ser) single nucleotide variant not specified [RCV004470792] Chr1:108467639 [GRCh38]
Chr1:109010261 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_001143988.2(NBPF6):c.235A>G (p.Met79Val) single nucleotide variant not specified [RCV004356721] Chr1:108452246 [GRCh38]
Chr1:108994868 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1333
Count of miRNA genes:679
Interacting mature miRNAs:767
Transcripts:ENST00000294652, ENST00000370040, ENST00000444143, ENST00000495380, ENST00000531446
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.

Markers in Region
SHGC-75245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,975,552 - 108,975,728UniSTSGRCh37
GRCh371108,803,896 - 108,804,072UniSTSGRCh37
Build 361108,605,419 - 108,605,595RGDNCBI36
Celera1107,194,403 - 107,194,579RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,738,177 - 106,738,353UniSTS
TNG Radiation Hybrid Map159190.0UniSTS
GeneMap99-GB4 RH Map1335.19UniSTS
NCBI RH Map1832.7UniSTS
G20488  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,975,649 - 108,975,781UniSTSGRCh37
GRCh371108,803,843 - 108,803,975UniSTSGRCh37
Build 361108,605,366 - 108,605,498RGDNCBI36
Celera1107,194,350 - 107,194,482RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,738,124 - 106,738,256UniSTS
A005T36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,975,649 - 108,975,781UniSTSGRCh37
GRCh371108,803,843 - 108,803,975UniSTSGRCh37
Build 361108,605,366 - 108,605,498RGDNCBI36
Celera1107,194,350 - 107,194,482RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,738,124 - 106,738,256UniSTS
GeneMap99-GB4 RH Map1334.11UniSTS
RH36018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,974,334 - 108,974,565UniSTSGRCh37
GRCh371108,805,059 - 108,805,290UniSTSGRCh37
Build 361108,606,582 - 108,606,813RGDNCBI36
Celera1107,195,566 - 107,195,797RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,739,340 - 106,739,571UniSTS
RH123940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,952,131 - 108,952,478UniSTSGRCh37
GRCh371108,827,145 - 108,827,492UniSTSGRCh37
Build 361108,628,668 - 108,629,015RGDNCBI36
Celera1107,217,651 - 107,217,998RGD
Cytogenetic Map1p13.3UniSTS
TNG Radiation Hybrid Map159202.0UniSTS


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 1
Low 83 32 100 9 98 9 50 17 102 4 361 36 1 21 1
Below cutoff 593 1074 470 91 447 33 1453 234 1647 35 188 299 60 374 1069 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001143987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001143988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC275454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL392088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC125161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX323851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370040   ⟹   ENSP00000359057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,450,282 - 108,470,638 (+)Ensembl
RefSeq Acc Id: ENST00000495380   ⟹   ENSP00000417277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,450,343 - 108,471,920 (+)Ensembl
RefSeq Acc Id: ENST00000531446   ⟹   ENSP00000434735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,450,321 - 108,465,395 (+)Ensembl
RefSeq Acc Id: NM_001143987   ⟹   NP_001137459
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,450,343 - 108,471,920 (+)NCBI
GRCh371108,992,904 - 109,013,260 (+)RGD
Celera181,478,296 - 81,483,774 (+)RGD
HuRef1106,711,826 - 106,721,331 (+)RGD
T2T-CHM13v2.01108,483,727 - 108,505,300 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001143988   ⟹   NP_001137460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,450,343 - 108,471,920 (+)NCBI
GRCh371108,992,904 - 109,013,260 (+)RGD
Celera181,478,296 - 81,483,774 (+)RGD
HuRef1106,711,826 - 106,721,331 (+)RGD
T2T-CHM13v2.01108,483,727 - 108,505,300 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542012   ⟹   XP_011540314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,421,491 - 108,471,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002148   ⟹   XP_016857637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,421,491 - 108,471,920 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428683   ⟹   XP_047284639
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,421,491 - 108,471,920 (+)NCBI
RefSeq Acc Id: XM_047428684   ⟹   XP_047284640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,421,491 - 108,471,920 (+)NCBI
RefSeq Acc Id: XM_047428685   ⟹   XP_047284641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,421,491 - 108,471,920 (+)NCBI
RefSeq Acc Id: XM_047428686   ⟹   XP_047284642
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,421,491 - 108,471,920 (+)NCBI
RefSeq Acc Id: XM_054338415   ⟹   XP_054194390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,454,879 - 108,505,124 (+)NCBI
RefSeq Acc Id: XM_054338416   ⟹   XP_054194391
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,454,038 - 108,505,124 (+)NCBI
RefSeq Acc Id: XM_054338417   ⟹   XP_054194392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,454,853 - 108,505,124 (+)NCBI
RefSeq Acc Id: XM_054338418   ⟹   XP_054194393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,454,853 - 108,505,124 (+)NCBI
RefSeq Acc Id: XM_054338419   ⟹   XP_054194394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,454,853 - 108,505,124 (+)NCBI
RefSeq Acc Id: XM_054338420   ⟹   XP_054194395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,454,884 - 108,505,124 (+)NCBI
RefSeq Acc Id: XM_054338421   ⟹   XP_054194396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,478,203 - 108,505,124 (+)NCBI
RefSeq Acc Id: XM_054338422   ⟹   XP_054194397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01108,454,038 - 108,505,124 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001137460   ⟸   NM_001143988
- Peptide Label: isoform 2
- UniProtKB: A4QN25 (UniProtKB/Swiss-Prot),   Q5VWK0 (UniProtKB/Swiss-Prot),   B7ZAX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001137459   ⟸   NM_001143987
- Peptide Label: isoform 1
- UniProtKB: A0A087WVM6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540314   ⟸   XM_011542012
- Peptide Label: isoform X1
- UniProtKB: B7ZAX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016857637   ⟸   XM_017002148
- Peptide Label: isoform X1
- UniProtKB: B7ZAX3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000359057   ⟸   ENST00000370040
RefSeq Acc Id: ENSP00000434735   ⟸   ENST00000531446
RefSeq Acc Id: ENSP00000417277   ⟸   ENST00000495380
RefSeq Acc Id: XP_047284639   ⟸   XM_047428683
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284641   ⟸   XM_047428685
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284642   ⟸   XM_047428686
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047284640   ⟸   XM_047428684
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054194397   ⟸   XM_054338422
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054194391   ⟸   XM_054338416
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194394   ⟸   XM_054338419
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194393   ⟸   XM_054338418
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194392   ⟸   XM_054338417
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194390   ⟸   XM_054338415
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194395   ⟸   XM_054338420
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194396   ⟸   XM_054338421
- Peptide Label: isoform X3
Protein Domains
Olduvai

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VWK0-F1-model_v2 AlphaFold Q5VWK0 1-638 view protein structure

Promoters
RGD ID:6856438
Promoter ID:EPDNEW_H1384
Type:multiple initiation site
Name:NBPF6_1
Description:NBPF member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,450,343 - 108,450,403EPDNEW

Additional Information

Database Acc Id Source(s)
COSMIC NBPF6 COSMIC
Ensembl Genes ENSG00000186086 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370040 ENTREZGENE
  ENST00000370040.7 UniProtKB/Swiss-Prot
  ENST00000495380 ENTREZGENE
  ENST00000495380.7 UniProtKB/Swiss-Prot
  ENST00000531446.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.1700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000186086 GTEx
HGNC ID HGNC:31988 ENTREZGENE
Human Proteome Map NBPF6 Human Proteome Map
InterPro Olduvai_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:653149 UniProtKB/Swiss-Prot
NCBI Gene 653149 ENTREZGENE
OMIM 613996 OMIM
PANTHER NEUROBLASTOMA BREAKPOINT FAMILY MEMBER 3 UniProtKB/TrEMBL
  NEUROBLASTOMA BREAKPOINT FAMILY MEMBER 4-RELATED UniProtKB/Swiss-Prot
  UNCHARACTERIZED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Olduvai UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671286 PharmGKB
PROSITE NBPF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF1220 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WVM6 ENTREZGENE
  A0A0B4J227_HUMAN UniProtKB/TrEMBL
  A4QN25 ENTREZGENE
  B7ZAX3 ENTREZGENE
  NBPF6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A4QN25 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 NBPF6  NBPF member 6    neuroblastoma breakpoint family member 6  Symbol and/or name change 5135510 APPROVED
2015-11-24 NBPF6  neuroblastoma breakpoint family member 6    neuroblastoma breakpoint family, member 6  Symbol and/or name change 5135510 APPROVED