BCL6B (BCL6B transcription repressor) - Rat Genome Database

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Gene: BCL6B (BCL6B transcription repressor) Homo sapiens
Analyze
Symbol: BCL6B
Name: BCL6B transcription repressor
RGD ID: 1349060
HGNC Page HGNC:1002
Description: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II; regulation of cytokine production; and regulation of immune system process. Predicted to be located in nucleus. Predicted to be part of PcG protein complex and transcription regulator complex. Predicted to be active in nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: B cell CLL/lymphoma 6B; B-cell CLL/lymphoma 6 member B protein; B-cell CLL/lymphoma 6, member B; B-cell CLL/lymphoma 6, member B (zinc finger protein); B-cell CLL/lymphoma 6B; BAZF; bcl6-associated zinc finger protein; BCL6B, transcription repressor; ZBTB28; zinc finger protein 62; ZNF62
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
GRCh38177,023,050 - 7,029,644 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,023,050 - 7,030,290 (+)EnsemblGRCh38hg38GRCh38
GRCh37176,926,369 - 6,932,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36176,867,093 - 6,873,685 (+)NCBINCBI36Build 36hg18NCBI36
Build 34176,867,092 - 6,873,685NCBI
Celera176,951,874 - 6,958,520 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef176,820,015 - 6,826,661 (+)NCBIHuRef
CHM1_1176,935,799 - 6,942,391 (+)NCBICHM1_1
T2T-CHM13v2.0176,923,650 - 6,930,294 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
avobenzone  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
buta-1,3-diene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
chrysene  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
cyclosporin A  (EXP)
dibenz[a,h]anthracene  (ISO)
diethyl maleate  (ISO)
diquat  (ISO)
dorsomorphin  (EXP)
ethanol  (ISO)
etoposide  (ISO)
folic acid  (EXP)
furan  (ISO)
glycidol  (ISO)
L-ethionine  (ISO)
leflunomide  (ISO)
manganese(II) chloride  (ISO)
methimazole  (ISO)
nickel atom  (EXP)
niclosamide  (EXP)
omeprazole  (ISO)
paclitaxel  (ISO)
paracetamol  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
sodium dichromate  (ISO)
Soman  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleoplasm  (IBA)
nucleus  (IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1505991   PMID:1946370   PMID:9632807   PMID:10965127   PMID:11855826   PMID:12477932   PMID:12659862   PMID:14702039   PMID:15489334   PMID:19274049   PMID:21873635   PMID:21917650  
PMID:22279058   PMID:24191714   PMID:25008234   PMID:25218345   PMID:25416956   PMID:25909168   PMID:25970780   PMID:26186194   PMID:28473536   PMID:28514442   PMID:28786561   PMID:29393377  
PMID:30385546   PMID:31754389   PMID:32296183   PMID:32517789   PMID:33931087   PMID:33961781   PMID:34269294   PMID:35048182   PMID:36376550   PMID:37078291  


Genomics

Comparative Map Data
BCL6B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38177,023,050 - 7,029,644 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl177,023,050 - 7,030,290 (+)EnsemblGRCh38hg38GRCh38
GRCh37176,926,369 - 6,932,963 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36176,867,093 - 6,873,685 (+)NCBINCBI36Build 36hg18NCBI36
Build 34176,867,092 - 6,873,685NCBI
Celera176,951,874 - 6,958,520 (+)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef176,820,015 - 6,826,661 (+)NCBIHuRef
CHM1_1176,935,799 - 6,942,391 (+)NCBICHM1_1
T2T-CHM13v2.0176,923,650 - 6,930,294 (+)NCBIT2T-CHM13v2.0
Bcl6b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391170,114,953 - 70,120,624 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1170,114,954 - 70,120,624 (-)EnsemblGRCm39 Ensembl
GRCm381170,224,127 - 70,229,798 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1170,224,128 - 70,229,798 (-)EnsemblGRCm38mm10GRCm38
MGSCv371170,037,629 - 70,043,300 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361170,040,323 - 70,045,916 (-)NCBIMGSCv36mm8
Celera1177,768,586 - 77,774,266 (-)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.99NCBI
Bcl6b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81055,439,566 - 55,444,631 (-)NCBIGRCr8
mRatBN7.21054,940,908 - 54,947,022 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1054,940,909 - 54,945,974 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1059,620,410 - 59,625,479 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01059,109,009 - 59,114,078 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01054,608,133 - 54,613,202 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01056,834,363 - 56,840,058 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,834,364 - 56,839,437 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,578,678 - 56,583,601 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41057,063,162 - 57,068,306 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1054,092,376 - 54,097,441 (-)NCBICelera
Cytogenetic Map10q24NCBI
Bcl6b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,900,392 - 9,906,705 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,900,392 - 9,906,610 (-)NCBIChiLan1.0ChiLan1.0
BCL6B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21914,615,874 - 14,628,415 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11716,581,859 - 16,594,448 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0177,053,841 - 7,061,523 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1177,042,091 - 7,049,736 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,042,775 - 7,046,741 (+)Ensemblpanpan1.1panPan2
BCL6B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1532,050,995 - 32,056,818 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl532,050,457 - 32,056,831 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha532,189,725 - 32,195,540 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0532,155,997 - 32,161,812 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl532,155,920 - 32,161,810 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1532,122,043 - 32,127,857 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0532,081,279 - 32,087,093 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0532,257,780 - 32,263,595 (+)NCBIUU_Cfam_GSD_1.0
Bcl6b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560246,820,323 - 46,826,998 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936595294,603 - 301,112 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936595294,622 - 301,134 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BCL6B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,427,462 - 52,433,228 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,427,405 - 52,433,231 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,706,197 - 54,712,026 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BCL6B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,380,406 - 6,388,931 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,382,384 - 6,390,716 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605915,026,026 - 15,032,763 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bcl6b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247869,566,867 - 9,573,513 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247869,566,742 - 9,573,513 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BCL6B
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
NM_181844.3(BCL6B):c.285C>T (p.Phe95=) single nucleotide variant Malignant melanoma [RCV000071647] Chr17:7024188 [GRCh38]
Chr17:6927507 [GRCh37]
Chr17:6868231 [NCBI36]
Chr17:17p13.1		 not provided
NM_181844.3(BCL6B):c.1350C>T (p.Phe450=) single nucleotide variant Malignant melanoma [RCV000071648] Chr17:7027526 [GRCh38]
Chr17:6930845 [GRCh37]
Chr17:6871569 [NCBI36]
Chr17:17p13.1		 not provided
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1		 likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:6891357-7264234)x3 copy number gain See cases [RCV000139216] Chr17:6891357..7264234 [GRCh38]
Chr17:6794676..7167553 [GRCh37]
Chr17:6735400..7108277 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.1(chr17:6575869-7002388)x3 copy number gain See cases [RCV000448314] Chr17:6575869..7002388 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:6826243-7311408)x3 copy number gain not provided [RCV000849961] Chr17:6826243..7311408 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6800893-7304696)x1 copy number loss not provided [RCV001006866] Chr17:6800893..7304696 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Common variable immunodeficiency [RCV001338841]|Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7128416_?)dup duplication Developmental and epileptic encephalopathy, 25 [RCV001320321] Chr17:6328780..7128416 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
NC_000017.10:g.(?_6589506)_(7128436_?)del deletion Very long chain acyl-CoA dehydrogenase deficiency [RCV001391032] Chr17:6589506..7128436 [GRCh37]
Chr17:17p13.1		 pathogenic
NC_000017.10:g.(?_6328780)_(7606804_?)dup duplication Congenital myasthenic syndrome 2A [RCV003109217]|Very long chain acyl-CoA dehydrogenase deficiency [RCV003119078] Chr17:6328780..7606804 [GRCh37]
Chr17:17p13.2-13.1		 uncertain significance
NM_181844.4(BCL6B):c.311C>G (p.Ser104Cys) single nucleotide variant Inborn genetic diseases [RCV002950555] Chr17:7024214 [GRCh38]
Chr17:6927533 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_181844.4(BCL6B):c.625G>C (p.Ala209Pro) single nucleotide variant Inborn genetic diseases [RCV002802781] Chr17:7024624 [GRCh38]
Chr17:6927943 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_181844.4(BCL6B):c.38A>G (p.Tyr13Cys) single nucleotide variant Inborn genetic diseases [RCV002768806] Chr17:7023709 [GRCh38]
Chr17:6927028 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_181844.4(BCL6B):c.693C>G (p.Asp231Glu) single nucleotide variant Inborn genetic diseases [RCV002813002] Chr17:7024692 [GRCh38]
Chr17:6928011 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_181844.4(BCL6B):c.428G>A (p.Arg143His) single nucleotide variant Inborn genetic diseases [RCV003191626] Chr17:7024427 [GRCh38]
Chr17:6927746 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_181844.4(BCL6B):c.476G>A (p.Gly159Asp) single nucleotide variant Inborn genetic diseases [RCV003358959] Chr17:7024475 [GRCh38]
Chr17:6927794 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_181844.4(BCL6B):c.367G>T (p.Val123Leu) single nucleotide variant Inborn genetic diseases [RCV003369990] Chr17:7024270 [GRCh38]
Chr17:6927589 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2374
Count of miRNA genes:1023
Interacting mature miRNAs:1239
Transcripts:ENST00000293805, ENST00000537931, ENST00000571729, ENST00000572216, ENST00000573503, ENST00000576705
Prediction methods:Miranda, Pita, 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.

Markers in Region
WI-13656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,932,804 - 6,932,953UniSTSGRCh37
Build 36176,873,528 - 6,873,677RGDNCBI36
Celera176,958,363 - 6,958,512RGD
Cytogenetic Map17p13.1UniSTS
HuRef176,826,504 - 6,826,653UniSTS
GeneMap99-GB4 RH Map1753.39UniSTS
Whitehead-RH Map1777.9UniSTS
AF021126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,927,963 - 6,928,196UniSTSGRCh37
Build 36176,868,687 - 6,868,920RGDNCBI36
Celera176,953,468 - 6,953,704RGD
Cytogenetic Map17p13.1UniSTS
HuRef176,821,609 - 6,821,845UniSTS


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 pharyngeal arch
High
Medium 331 357 730 41 226 29 1014 287 354 149 257 1194 13 1022 403 1
Low 2005 1856 936 537 476 386 3233 1866 3146 224 1107 245 153 1 182 2353 3 2
Below cutoff 40 746 47 36 1105 39 57 28 198 11 56 85 5 32 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000293805   ⟹   ENSP00000293805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,023,050 - 7,029,644 (+)Ensembl
RefSeq Acc Id: ENST00000537931   ⟹   ENSP00000445010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,026,501 - 7,030,290 (+)Ensembl
RefSeq Acc Id: ENST00000571729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,026,791 - 7,030,038 (+)Ensembl
RefSeq Acc Id: ENST00000572216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,023,067 - 7,024,630 (+)Ensembl
RefSeq Acc Id: ENST00000573503   ⟹   ENSP00000460282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,023,477 - 7,024,237 (+)Ensembl
RefSeq Acc Id: ENST00000576705   ⟹   ENSP00000460071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl177,023,102 - 7,024,304 (+)Ensembl
RefSeq Acc Id: NM_181844   ⟹   NP_862827
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,023,050 - 7,029,644 (+)NCBI
GRCh37176,926,368 - 6,933,609 (+)NCBI
Build 36176,867,093 - 6,873,685 (+)NCBI Archive
Celera176,951,874 - 6,958,520 (+)RGD
HuRef176,820,015 - 6,826,661 (+)RGD
CHM1_1176,935,799 - 6,942,391 (+)NCBI
T2T-CHM13v2.0176,923,650 - 6,930,294 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_862827   ⟸   NM_181844
- UniProtKB: Q8N143 (UniProtKB/Swiss-Prot),   Q6PCB4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000293805   ⟸   ENST00000293805
RefSeq Acc Id: ENSP00000460282   ⟸   ENST00000573503
RefSeq Acc Id: ENSP00000445010   ⟸   ENST00000537931
RefSeq Acc Id: ENSP00000460071   ⟸   ENST00000576705
Protein Domains
BTB   C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N143-F1-model_v2 AlphaFold Q8N143 1-479 view protein structure

Promoters
RGD ID:6793782
Promoter ID:HG_KWN:24838
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:NM_181844,   UC002GEG.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36176,866,069 - 6,866,569 (+)MPROMDB
RGD ID:6814591
Promoter ID:HG_XEF:3236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:NM_001108279
Position:
Human AssemblyChrPosition (strand)Source
Build 36176,867,646 - 6,868,177 (+)MPROMDB
RGD ID:7233621
Promoter ID:EPDNEW_H22555
Type:initiation region
Name:BCL6B_1
Description:B-cell CLL/lymphoma 6B
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
GRCh38177,023,051 - 7,023,111EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1002 AgrOrtholog
COSMIC BCL6B COSMIC
Ensembl Genes ENSG00000161940 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000293805 ENTREZGENE
  ENST00000293805.10 UniProtKB/Swiss-Prot
  ENST00000537931.2 UniProtKB/TrEMBL
  ENST00000573503.1 UniProtKB/TrEMBL
  ENST00000576705.1 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000161940 GTEx
HGNC ID HGNC:1002 ENTREZGENE
Human Proteome Map BCL6B Human Proteome Map
InterPro BTB/POZ_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SKP1/BTB/POZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:255877 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 255877 ENTREZGENE
OMIM 608992 OMIM
PANTHER AGAP004733-PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BCL6B TRANSCRIPTION REPRESSOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GENE 12845-RELATED UniProtKB/TrEMBL
  TRANSCRIPTIONAL REPRESSOR PROTEIN YY UniProtKB/TrEMBL
Pfam BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25313 PharmGKB
PROSITE BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BTB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54695 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8KA13_HUMAN UniProtKB/TrEMBL
  BCL6B_HUMAN UniProtKB/Swiss-Prot
  H0YGW0_HUMAN UniProtKB/TrEMBL
  I3L304_HUMAN UniProtKB/TrEMBL
  I3L396_HUMAN UniProtKB/TrEMBL
  Q6PCB4 ENTREZGENE
  Q8N143 ENTREZGENE
UniProt Secondary Q6PCB4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 BCL6B  BCL6B transcription repressor    BCL6B, transcription repressor  Symbol and/or name change 5135510 APPROVED
2018-11-06 BCL6B  BCL6B, transcription repressor    B cell CLL/lymphoma 6B  Symbol and/or name change 5135510 APPROVED
2017-12-19 BCL6B  B cell CLL/lymphoma 6B    B-cell CLL/lymphoma 6B  Symbol and/or name change 5135510 APPROVED
2016-03-28 BCL6B  B-cell CLL/lymphoma 6B    B-cell CLL/lymphoma 6, member B  Symbol and/or name change 5135510 APPROVED
2011-07-27 BCL6B  B-cell CLL/lymphoma 6, member B  BCL6B  B-cell CLL/lymphoma 6, member B (zinc finger protein)  Symbol and/or name change 5135510 APPROVED