BNC1 (basonuclin 1) - Rat Genome Database

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Gene: BNC1 (basonuclin 1) Homo sapiens
Analyze
Symbol: BNC1
Name: basonuclin 1
RGD ID: 1319162
HGNC Page HGNC
Description: Enables DNA-binding transcription activator activity and rDNA binding activity. Involved in positive regulation of oocyte maturation and positive regulation of transcription by RNA polymerase I. Located in nucleoplasm. Implicated in primary ovarian insufficiency 16.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BNC; BSN1; HsT19447; POF16; zinc finger protein basonuclin; zinc finger protein basonuclin-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1583,255,884 - 83,284,664 (-)EnsemblGRCh38hg38GRCh38
GRCh381583,255,884 - 83,284,664 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371583,924,636 - 83,953,416 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361581,715,659 - 81,744,472 (-)NCBINCBI36hg18NCBI36
Build 341581,715,658 - 81,744,472NCBI
Celera1560,632,983 - 60,659,894 (+)NCBI
Cytogenetic Map15q25.2NCBI
HuRef1560,188,348 - 60,215,945 (-)NCBIHuRef
CHM1_11583,666,114 - 83,694,927 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:1332044   PMID:8034748   PMID:9099851   PMID:9151672   PMID:9223293   PMID:9687312   PMID:9727087   PMID:10449744   PMID:10462520   PMID:10524234   PMID:10839715   PMID:11076863  
PMID:11152639   PMID:11802773   PMID:12477932   PMID:15146197   PMID:15694340   PMID:16344560   PMID:16891417   PMID:19274049   PMID:19430199   PMID:20154727   PMID:20484983   PMID:20531302  
PMID:21741828   PMID:21873635   PMID:23707421   PMID:24088737   PMID:24454902   PMID:24662832   PMID:26821013   PMID:30010909   PMID:30021884   PMID:31065688   PMID:31767620  


Genomics

Comparative Map Data
BNC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1583,255,884 - 83,284,664 (-)EnsemblGRCh38hg38GRCh38
GRCh381583,255,884 - 83,284,664 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371583,924,636 - 83,953,416 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361581,715,659 - 81,744,472 (-)NCBINCBI36hg18NCBI36
Build 341581,715,658 - 81,744,472NCBI
Celera1560,632,983 - 60,659,894 (+)NCBI
Cytogenetic Map15q25.2NCBI
HuRef1560,188,348 - 60,215,945 (-)NCBIHuRef
CHM1_11583,666,114 - 83,694,927 (-)NCBICHM1_1
Bnc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39781,616,401 - 81,642,047 (-)NCBIGRCm39mm39
GRCm39 Ensembl781,616,401 - 81,642,055 (-)Ensembl
GRCm38781,966,657 - 81,992,299 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl781,966,653 - 81,992,307 (-)EnsemblGRCm38mm10GRCm38
MGSCv37789,111,548 - 89,137,185 (-)NCBIGRCm37mm9NCBIm37
MGSCv36781,840,344 - 81,865,759 (-)NCBImm8
Celera779,379,525 - 79,405,162 (-)NCBICelera
Cytogenetic Map7D3NCBI
Bnc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21135,917,676 - 135,943,333 (-)NCBI
Rnor_6.0 Ensembl1143,793,064 - 143,818,706 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01143,869,440 - 143,878,077 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.01143,793,280 - 143,818,748 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01144,808,480 - 144,817,117 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01144,734,051 - 144,759,452 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41138,189,334 - 138,201,795 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11138,269,498 - 138,280,219 (-)NCBI
Celera1127,967,966 - 127,993,622 (-)NCBICelera
Cytogenetic Map1q31NCBI
Bnc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541613,428,760 - 13,440,921 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541613,428,760 - 13,440,837 (+)NCBIChiLan1.0ChiLan1.0
BNC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11581,146,417 - 81,174,007 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1581,146,417 - 81,174,007 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01562,316,229 - 62,345,123 (+)NCBIMhudiblu_PPA_v0panPan3
BNC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1355,040,538 - 55,068,223 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl355,040,704 - 55,068,974 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha357,679,397 - 57,706,864 (-)NCBI
ROS_Cfam_1.0355,452,369 - 55,479,839 (-)NCBI
UMICH_Zoey_3.1354,977,712 - 55,005,171 (-)NCBI
UNSW_CanFamBas_1.0355,187,285 - 55,214,745 (-)NCBI
UU_Cfam_GSD_1.0355,524,403 - 55,552,090 (-)NCBI
Bnc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640128,422,595 - 128,434,352 (+)NCBI
SpeTri2.0NW_00493648317,900,189 - 17,911,925 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BNC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl751,651,172 - 51,679,776 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1751,651,179 - 51,679,781 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2757,139,471 - 57,168,062 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BNC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1292,331,958 - 2,360,832 (+)NCBI
ChlSab1.1 Ensembl292,349,650 - 2,360,804 (+)Ensembl
Vero_WHO_p1.0NW_02366605944,740,636 - 44,766,600 (-)NCBI
Bnc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476819,011,971 - 19,035,717 (-)NCBI

Position Markers
D15S670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371583,937,257 - 83,937,360UniSTSGRCh37
Build 361581,728,261 - 81,728,364RGDNCBI36
Celera1560,649,127 - 60,649,230RGD
Cytogenetic Map15q25.2UniSTS
HuRef1560,201,094 - 60,201,197UniSTS
Whitehead-YAC Contig Map15 UniSTS
BNC1__4457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371583,924,483 - 83,925,405UniSTSGRCh37
Build 361581,715,487 - 81,716,409RGDNCBI36
HuRef1560,188,176 - 60,189,098UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:652
Count of miRNA genes:506
Interacting mature miRNAs:553
Transcripts:ENST00000345382, ENST00000569704
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 3 19 9 19 3 880 14 6 13 542 93 24 318 442
Low 145 284 98 99 70 18 631 103 64 88 325 203 85 219 284 2
Below cutoff 2082 2054 1426 364 835 302 2541 2000 2988 216 503 1167 64 1 660 1824 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000345382   ⟹   ENSP00000307041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,255,903 - 83,284,714 (-)Ensembl
RefSeq Acc Id: ENST00000569704   ⟹   ENSP00000456727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1583,257,344 - 83,283,319 (-)Ensembl
RefSeq Acc Id: NM_001301206   ⟹   NP_001288135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,255,884 - 83,283,457 (-)NCBI
CHM1_11583,666,114 - 83,693,668 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001717   ⟹   NP_001708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,255,884 - 83,284,664 (-)NCBI
GRCh371583,924,655 - 83,953,468 (-)ENTREZGENE
Build 361581,715,659 - 81,744,472 (-)NCBI Archive
HuRef1560,188,348 - 60,215,945 (-)ENTREZGENE
CHM1_11583,666,114 - 83,694,927 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521893   ⟹   XP_011520195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,255,884 - 83,283,189 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521894   ⟹   XP_011520196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381583,255,884 - 83,266,921 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001708   ⟸   NM_001717
- Peptide Label: isoform a
- UniProtKB: Q01954 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288135   ⟸   NM_001301206
- Peptide Label: isoform b
- UniProtKB: Q01954 (UniProtKB/Swiss-Prot),   B7Z885 (UniProtKB/TrEMBL),   F5GY04 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011520195   ⟸   XM_011521893
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011520196   ⟸   XM_011521894
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000456727   ⟸   ENST00000569704
RefSeq Acc Id: ENSP00000307041   ⟸   ENST00000345382
Protein Domains
C2H2-type

Promoters
RGD ID:7230375
Promoter ID:EPDNEW_H20933
Type:initiation region
Name:BNC1_1
Description:basonuclin 1
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
GRCh381583,284,664 - 83,284,724EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q25.2(chr15:82558402-84121082)x3 copy number gain See cases [RCV000051826] Chr15:82558402..84121082 [GRCh38]
Chr15:83214012..84789834 [GRCh37]
Chr15:81011067..82580838 [NCBI36]
Chr15:15q25.2
pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3
pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3
pathogenic
NM_001717.3(BNC1):c.1576G>A (p.Glu526Lys) single nucleotide variant Malignant melanoma [RCV000070920] Chr15:83263675 [GRCh38]
Chr15:83932427 [GRCh37]
Chr15:81723431 [NCBI36]
Chr15:15q25.2
not provided
NM_001717.3(BNC1):c.955C>T (p.His319Tyr) single nucleotide variant Malignant melanoma [RCV000070921] Chr15:83264296 [GRCh38]
Chr15:83933048 [GRCh37]
Chr15:81724052 [NCBI36]
Chr15:15q25.2
not provided
NM_001717.4(BNC1):c.2917C>T (p.Arg973Ter) single nucleotide variant Premature ovarian failure 16 [RCV001331894] Chr15:83257510 [GRCh38]
Chr15:83926262 [GRCh37]
Chr15:15q25.2
uncertain significance
GRCh38/hg38 15q25.2(chr15:83101364-83291966)x1 copy number loss See cases [RCV000137020] Chr15:83101364..83291966 [GRCh38]
Chr15:83770116..83960718 [GRCh37]
Chr15:81561120..81751722 [NCBI36]
Chr15:15q25.2
benign
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3
pathogenic
GRCh38/hg38 15q25.2-25.3(chr15:82560915-85185613)x1 copy number loss See cases [RCV000137052] Chr15:82560915..85185613 [GRCh38]
Chr15:83229665..85728844 [GRCh37]
Chr15:81026720..83529848 [NCBI36]
Chr15:15q25.2-25.3
likely pathogenic|uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
GRCh38/hg38 15q25.2-25.3(chr15:82627214-85243616)x1 copy number loss See cases [RCV000143125] Chr15:82627214..85243616 [GRCh38]
Chr15:83083418..85786847 [GRCh37]
Chr15:80880473..83587851 [NCBI36]
Chr15:15q25.2-25.3
likely pathogenic
GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1 copy number loss Premature ovarian failure [RCV000225327] Chr15:83213963..84811815 [GRCh37]
Chr15:15q25.2
likely pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3
pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
GRCh37/hg19 15q25.1-25.2(chr15:80703867-83955596)x1 copy number loss See cases [RCV000446990] Chr15:80703867..83955596 [GRCh37]
Chr15:15q25.1-25.2
pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q25.2(chr15:83679705-84450756)x3 copy number gain See cases [RCV000448403] Chr15:83679705..84450756 [GRCh37]
Chr15:15q25.2
uncertain significance
GRCh37/hg19 15q25.2(chr15:83169558-84847653)x1 copy number loss See cases [RCV000510435] Chr15:83169558..84847653 [GRCh37]
Chr15:15q25.2
likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
GRCh37/hg19 15q25.2(chr15:82606408-84970771)x3 copy number gain See cases [RCV000512491] Chr15:82606408..84970771 [GRCh37]
Chr15:15q25.2
uncertain significance
GRCh37/hg19 15q25.1-25.3(chr15:79023343-87158823)x1,2 copy number gain not provided [RCV000683712] Chr15:79023343..87158823 [GRCh37]
Chr15:15q25.1-25.3
pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3
pathogenic
NC_000015.9:g.83214012_84812693del1598682 deletion Primary amenorrhea [RCV000754462] Chr15:83214012..84812693 [GRCh37]
Chr15:15q25.2
likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_001717.4(BNC1):c.1065_1069del (p.Arg356fs) deletion Premature ovarian failure 16 [RCV000984865] Chr15:83264182..83264186 [GRCh38]
Chr15:83932934..83932938 [GRCh37]
Chr15:15q25.2
pathogenic
NM_001717.4(BNC1):c.2359A>G (p.Ser787Gly) single nucleotide variant not provided [RCV000949803] Chr15:83258068 [GRCh38]
Chr15:83926820 [GRCh37]
Chr15:15q25.2
benign
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1
pathogenic
GRCh37/hg19 15q25.2(chr15:83214012-84772030)x1 copy number loss not provided [RCV000856636] Chr15:83214012..84772030 [GRCh37]
Chr15:15q25.2
pathogenic
GRCh37/hg19 15q25.2(chr15:82688216-84796779)x1 copy number loss not provided [RCV000848551] Chr15:82688216..84796779 [GRCh37]
Chr15:15q25.2
pathogenic
GRCh37/hg19 15q25.2(chr15:82468371-84797068)x3 copy number gain not provided [RCV000846337] Chr15:82468371..84797068 [GRCh37]
Chr15:15q25.2
uncertain significance
GRCh37/hg19 15q25.1-25.2(chr15:80728654-84107646)x1 copy number loss not provided [RCV000849378] Chr15:80728654..84107646 [GRCh37]
Chr15:15q25.1-25.2
pathogenic
NM_001717.4(BNC1):c.576C>T (p.Ser192=) single nucleotide variant not provided [RCV000907857] Chr15:83264675 [GRCh38]
Chr15:83933427 [GRCh37]
Chr15:15q25.2
benign
GRCh37/hg19 15q25.2-25.3(chr15:83201955-85786847)x1 copy number loss not provided [RCV001259716] Chr15:83201955..85786847 [GRCh37]
Chr15:15q25.2-25.3
pathogenic
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile) single nucleotide variant Premature ovarian failure [RCV001270232] Chr15:83262978 [GRCh38]
Chr15:83931730 [GRCh37]
Chr15:15q25.2
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1081 AgrOrtholog
COSMIC BNC1 COSMIC
Ensembl Genes ENSG00000169594 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000307041 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000456727 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345382 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000569704 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000169594 GTEx
HGNC ID HGNC:1081 ENTREZGENE
Human Proteome Map BNC1 Human Proteome Map
InterPro Disconnected-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:646 UniProtKB/Swiss-Prot
NCBI Gene 646 ENTREZGENE
OMIM 601930 OMIM
  618723 OMIM
PANTHER PTHR15021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25391 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7Z885 ENTREZGENE, UniProtKB/TrEMBL
  BNC1_HUMAN UniProtKB/Swiss-Prot
  F5GY04 ENTREZGENE, UniProtKB/TrEMBL
  Q01954 ENTREZGENE
UniProt Secondary Q15840 UniProtKB/Swiss-Prot