BTBD6 (BTB domain containing 6) - Rat Genome Database

Name: BTBD6
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: BTBD6 (BTB domain containing 6) Homo sapiens

Analyze

Symbol:

BTBD6

Name:

BTB domain containing 6

RGD ID:

1352605

HGNC Page

HGNC:19897

Description:

Predicted to be involved in neurogenesis. Predicted to be located in cytoplasm. Predicted to be active in cytosol.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

BDPL; BTB (POZ) domain containing 6; BTB domain protein BDPL; BTB/POZ domain-containing protein 6; glucocorticoid receptor AF-1 coactivator-1; lens BTB domain protein

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Btbd6 (BTB domain containing 6)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Btbd6 (BTB domain containing 6)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Btbd6 (BTB domain containing 6)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	BTBD6 (BTB domain containing 6)	NCBI	Ortholog
Canis lupus familiaris (dog):	BTBD6 (BTB domain containing 6)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Btbd6 (BTB domain containing 6)	NCBI	Ortholog
Sus scrofa (pig):	BTBD6 (BTB domain containing 6)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	BTBD6 (BTB domain containing 6)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Btbd6 (BTB domain containing 6)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Btbd3 (BTB domain containing 3)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Btbd6 (BTB domain containing 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Btbd6 (BTB domain containing 6)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	btbd6a (BTB (POZ) domain containing 6a)	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	btbd6b (BTB (POZ) domain containing 6b)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	lute	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	btbd6.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	btbd6	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	btbd6.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

BTBD6P1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	105,248,533 - 105,251,093 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	105,248,533 - 105,251,093 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	105,714,870 - 105,717,430 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	104,786,053 - 104,788,474 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	104,786,052 - 104,788,475	NCBI
Celera	14	85,764,120 - 85,766,668 (+)	NCBI		Celera
Cytogenetic Map	14	q32.33	NCBI
HuRef	14	85,905,116 - 85,914,632 (+)	NCBI		HuRef
CHM1_1	14	105,644,856 - 105,647,407 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	99,495,394 - 99,497,954 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease axonal type 2O (IAGP)

focal segmental glomerulosclerosis 5 (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

aflatoxin B1 (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium atom (ISO)

carbamazepine (EXP)

chlorpyrifos (ISO)

chromium(6+) (ISO)

cobalt dichloride (EXP)

dexamethasone (EXP)

doxorubicin (EXP)

folic acid (ISO)

gentamycin (ISO)

glafenine (ISO)

indometacin (EXP)

methyl methanesulfonate (EXP)

ozone (ISO)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (EXP)

sodium fluoride (ISO)

sunitinib (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

triptonide (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

neurogenesis (IBA,IEA)

Cellular Component

cytoplasm (IEA)

cytosol (IBA,IEA,TAS)

Molecular Function

protein binding (IPI)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:12107413	PMID:12477932	PMID:15489334	PMID:16751776	PMID:18855900	PMID:20080956	PMID:21573799	PMID:21653829	PMID:21873635	PMID:21988832	PMID:22658674
PMID:22990118	PMID:28514442	PMID:30404837	PMID:32296183	PMID:32645484	PMID:33961781	PMID:35271311	PMID:35563538

Genomics

Comparative Map Data

BTBD6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	105,248,533 - 105,251,093 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	105,248,533 - 105,251,093 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	105,714,870 - 105,717,430 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	104,786,053 - 104,788,474 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	104,786,052 - 104,788,475	NCBI
Celera	14	85,764,120 - 85,766,668 (+)	NCBI		Celera
Cytogenetic Map	14	q32.33	NCBI
HuRef	14	85,905,116 - 85,914,632 (+)	NCBI		HuRef
CHM1_1	14	105,644,856 - 105,647,407 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	99,495,394 - 99,497,954 (+)	NCBI		T2T-CHM13v2.0

Btbd6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	112,937,880 - 112,943,113 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	112,940,102 - 112,942,565 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	112,974,260 - 112,979,493 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	112,976,482 - 112,978,945 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	114,214,693 - 114,217,151 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	113,424,371 - 113,426,748 (+)	NCBI		MGSCv36	mm8
Celera	12	114,186,511 - 114,188,971 (+)	NCBI		Celera
Cytogenetic Map	12	F1	NCBI
cM Map	12	61.5	NCBI

Btbd6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	137,879,202 - 137,881,662 (+)	NCBI		GRCr8
mRatBN7.2	6	132,058,094 - 132,060,603 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	132,058,096 - 132,060,587 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	132,227,690 - 132,230,150 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	132,517,505 - 132,519,965 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	131,892,617 - 131,895,077 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	137,785,662 - 137,788,442 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	137,785,982 - 137,788,434 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	146,782,104 - 146,784,624 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	137,983,974 - 137,986,434 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	6	129,596,008 - 129,598,468 (+)	NCBI		Celera
Cytogenetic Map	6	q32	NCBI

Btbd6
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955538	3,494,946 - 3,500,783 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955538	3,494,950 - 3,496,888 (+)	NCBI	ChiLan1.0	ChiLan1.0

BTBD6
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	15	106,420,635 - 106,423,180 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	105,637,137 - 105,639,682 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	85,883,988 - 85,886,491 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	105,665,258 - 105,667,031 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

BTBD6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	72,605,715 - 72,607,189 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	72,605,516 - 72,607,023 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	72,116,307 - 72,118,424 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	72,892,008 - 72,894,130 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	8	72,891,341 - 72,893,965 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	8	72,572,640 - 72,574,760 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	72,623,608 - 72,625,718 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	73,013,585 - 73,015,722 (+)	NCBI		UU_Cfam_GSD_1.0

Btbd6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	1,467,750 - 1,475,220 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936621	300,503 - 304,183 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936621	301,879 - 304,177 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BTBD6
(Sus scrofa - pig)

No map positions available.

BTBD6
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	24	83,147,794 - 83,150,199 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666053	70,592,041 - 70,594,592 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Btbd6
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624734	255,564 - 257,375 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624734	255,182 - 257,494 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in BTBD6
29 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	copy number loss	See cases [RCV000050938]	Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	copy number loss	See cases [RCV000050696]	Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1	copy number loss	See cases [RCV000051578]	Chr14:101994084..106855405 [GRCh38] Chr14:102460421..107263620 [GRCh37] Chr14:101530174..106334665 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	copy number loss	See cases [RCV000051581]	Chr14:103784758..106870558 [GRCh38] Chr14:104251095..107278770 [GRCh37] Chr14:103320848..106349815 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|See cases [RCV000051553]	Chr14:100590353..106855264 [GRCh38] Chr14:101056690..107263479 [GRCh37] Chr14:100126443..106334524 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:105141364-106855263)x1	copy number loss	See cases [RCV000051204]	Chr14:105141364..106855263 [GRCh38] Chr14:105607701..107263478 [GRCh37] Chr14:104678746..106334523 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	copy number loss	See cases [RCV000051113]	Chr14:100808300..106855263 [GRCh38] Chr14:101274637..107263478 [GRCh37] Chr14:100344390..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|See cases [RCV000052298]	Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	copy number gain	See cases [RCV000052295]	Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:105141364-105987610)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052102]\|See cases [RCV000052102]	Chr14:105141364..105987610 [GRCh38] Chr14:105607701..106453697 [GRCh37] Chr14:104678746..105524742 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3	copy number gain	See cases [RCV000052294]	Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	copy number gain	See cases [RCV000052296]	Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	copy number loss	See cases [RCV000133831]	Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	copy number gain	See cases [RCV000134000]	Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	copy number gain	See cases [RCV000135410]	Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	copy number loss	See cases [RCV000135387]	Chr14:104953508..106873666 [GRCh38] Chr14:105419845..107281875 [GRCh37] Chr14:104490890..106352920 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	copy number gain	See cases [RCV000135400]	Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	copy number gain	See cases [RCV000135875]	Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	copy number loss	See cases [RCV000135781]	Chr14:104622881..106678844 [GRCh38] Chr14:105017236..107134861 [GRCh37] Chr14:104088281..106205906 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:105023396-106850750)x1	copy number loss	See cases [RCV000135897]	Chr14:105023396..106850750 [GRCh38] Chr14:105489733..107258965 [GRCh37] Chr14:104560778..106330010 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	copy number loss	See cases [RCV000136032]	Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:105105705-106879501)x1	copy number loss	See cases [RCV000138844]	Chr14:105105705..106879501 [GRCh38] Chr14:105572042..107287708 [GRCh37] Chr14:104643087..106358753 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	copy number gain	See cases [RCV000138230]	Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	copy number gain	See cases [RCV000139617]	Chr14:104872858..105605042 [GRCh38] Chr14:105339195..105803170 [GRCh37] Chr14:104410240..105239471 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	copy number loss	See cases [RCV000139633]	Chr14:101925670..106876323 [GRCh38] Chr14:102392007..107284531 [GRCh37] Chr14:101461760..106355576 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	copy number loss	See cases [RCV000141932]	Chr14:102239422..106877229 [GRCh38] Chr14:102705759..107285437 [GRCh37] Chr14:101775512..106356482 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	copy number loss	See cases [RCV000142333]	Chr14:104051258..106877229 [GRCh38] Chr14:104517595..107285437 [GRCh37] Chr14:103587348..106356482 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	copy number loss	See cases [RCV000142453]	Chr14:101665602..106855263 [GRCh38] Chr14:102131939..107263478 [GRCh37] Chr14:101201692..106334523 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:105224887-106877229)x6	copy number gain	See cases [RCV000142058]	Chr14:105224887..106877229 [GRCh38] Chr14:105691224..107285437 [GRCh37] Chr14:104762269..106356482 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.33(chr14:105138612-106877229)x1	copy number loss	See cases [RCV000142111]	Chr14:105138612..106877229 [GRCh38] Chr14:105604949..107285437 [GRCh37] Chr14:104675994..106356482 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	copy number loss	See cases [RCV000142803]	Chr14:103823600..106879298 [GRCh38] Chr14:104289937..107287505 [GRCh37] Chr14:103359690..106358550 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	copy number gain	See cases [RCV000142593]	Chr14:103322414..106855263 [GRCh38] Chr14:103788751..107263478 [GRCh37] Chr14:102858504..106334523 [NCBI36] Chr14:14q32.32-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	copy number loss	See cases [RCV000143154]	Chr14:102605096..106879298 [GRCh38] Chr14:103071433..107287505 [GRCh37] Chr14:102141186..106358550 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	copy number loss	See cases [RCV000143662]	Chr14:100582059..106877229 [GRCh38] Chr14:101048396..107285437 [GRCh37] Chr14:100118149..106356482 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1	copy number loss	See cases [RCV000239801]	Chr14:105393054..105996538 [GRCh37] Chr14:14q32.33	uncertain significance
chr14:104643721..105932775 complex variant	complex	Breast ductal adenocarcinoma [RCV000207189]	Chr14:104643721..105932775 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1	copy number loss	See cases [RCV000446081]	Chr14:103711336..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3	copy number gain	See cases [RCV000446497]	Chr14:98051841..107285437 [GRCh37] Chr14:14q32.2-32.33	likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3	copy number gain	See cases [RCV000448557]	Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	copy number loss	See cases [RCV000510629]	Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	copy number loss	See cases [RCV000511801]	Chr14:103965059..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1	copy number loss	See cases [RCV000511076]	Chr14:104915608..107285437 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	copy number loss	See cases [RCV000511171]	Chr14:100661319..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	copy number loss	See cases [RCV000511173]	Chr14:102670706..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NM_001387567.1(BTBD6):c.892G>A (p.Glu298Lys)	single nucleotide variant	Inborn genetic diseases [RCV003239647]	Chr14:105249947 [GRCh38] Chr14:105716284 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:105587643-106560949)x3	copy number gain	See cases [RCV000512193]	Chr14:105587643..106560949 [GRCh37] Chr14:14q32.33	likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	copy number gain	See cases [RCV000512497]	Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	copy number gain	not provided [RCV000683623]	Chr14:102191861..106019451 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105080065-106067618)x1	copy number loss	not provided [RCV000738611]	Chr14:105080065..106067618 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.33(chr14:105436222-107287663)x3	copy number gain	not provided [RCV000751145]	Chr14:105436222..107287663 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	copy number gain	not provided [RCV000767752]	Chr14:100575917..107281934 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	copy number loss	not provided [RCV000848291]	Chr14:105067651..107285437 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:105500759-106044679)x3	copy number gain	not provided [RCV000848104]	Chr14:105500759..106044679 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	copy number gain	not provided [RCV000848687]	Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	copy number gain	not provided [RCV000849272]	Chr14:99794230..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	copy number loss	not provided [RCV000847188]	Chr14:102931119..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	copy number loss	not provided [RCV001006659]	Chr14:104764078..107285437 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105677530-106044679)x3	copy number gain	not provided [RCV000846694]	Chr14:105677530..106044679 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:105708746-106020555)x3	copy number gain	not provided [RCV000848998]	Chr14:105708746..106020555 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	copy number loss	not provided [RCV000848417]	Chr14:101627916..107147698 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	copy number loss	not provided [RCV001006656]	Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1	copy number loss	not provided [RCV001006660]	Chr14:105303584..107285437 [GRCh37] Chr14:14q32.33	pathogenic
NC_000014.8:g.(?_102228231)_(105861009_?)dup	duplication	Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]	Chr14:102228231..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:105690721-106019451)x3	copy number gain	not provided [RCV001006661]	Chr14:105690721..106019451 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	copy number loss	See cases [RCV001195078]	Chr14:96829290..107287663 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	copy number loss	not provided [RCV001259801]	Chr14:102615953..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NM_001519.4(BRF1):c.544+2713G>A	single nucleotide variant	Cerebellofaciodental syndrome [RCV001328845]	Chr14:105249794 [GRCh38] Chr14:105716131 [GRCh37] Chr14:14q32.33	pathogenic
NC_000014.8:g.(?_103336539)_(105861009_?)dup	duplication	not provided [RCV002239722]	Chr14:103336539..105861009 [GRCh37] Chr14:14q32.32-32.33	uncertain significance
NC_000014.8:g.(?_102442029)_(105861009_?)del	deletion	Charcot-Marie-Tooth disease axonal type 2O [RCV003107388]	Chr14:102442029..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NM_001387567.1(BTBD6):c.1159G>A (p.Ala387Thr)	single nucleotide variant	Inborn genetic diseases [RCV003252559]	Chr14:105250214 [GRCh38] Chr14:105716551 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	copy number loss	not specified [RCV002052456]	Chr14:101732158..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105708747-105820513)	copy number gain	not specified [RCV002052458]	Chr14:105708747..105820513 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	copy number loss	not provided [RCV001829204]	Chr14:101593860..106160500 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del	deletion	not provided [RCV002000609]	Chr14:103148212..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup	duplication	not provided [RCV003120748]	Chr14:102229222..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NC_000014.8:g.(?_105167703)_(105861009_?)del	deletion	Focal segmental glomerulosclerosis 5 [RCV003111501]	Chr14:105167703..105861009 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
NM_001387567.1(BTBD6):c.1410G>C (p.Trp470Cys)	single nucleotide variant	Inborn genetic diseases [RCV003285991]	Chr14:105250465 [GRCh38] Chr14:105716802 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	copy number gain	not provided [RCV002472581]	Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33	pathogenic
NM_001387567.1(BTBD6):c.271C>T (p.Pro91Ser)	single nucleotide variant	Inborn genetic diseases [RCV002970133]	Chr14:105248982 [GRCh38] Chr14:105715319 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.595A>C (p.Ser199Arg)	single nucleotide variant	Inborn genetic diseases [RCV002778392]	Chr14:105249650 [GRCh38] Chr14:105715987 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.439G>A (p.Ala147Thr)	single nucleotide variant	Inborn genetic diseases [RCV002869550]	Chr14:105249221 [GRCh38] Chr14:105715558 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.187A>G (p.Ser63Gly)	single nucleotide variant	Inborn genetic diseases [RCV002926273]	Chr14:105248898 [GRCh38] Chr14:105715235 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.817C>T (p.Arg273Trp)	single nucleotide variant	Inborn genetic diseases [RCV002763573]	Chr14:105249872 [GRCh38] Chr14:105716209 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1613C>T (p.Ala538Val)	single nucleotide variant	Inborn genetic diseases [RCV002931058]	Chr14:105250668 [GRCh38] Chr14:105717005 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1558A>G (p.Ser520Gly)	single nucleotide variant	Inborn genetic diseases [RCV002874406]	Chr14:105250613 [GRCh38] Chr14:105716950 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1048G>A (p.Ala350Thr)	single nucleotide variant	Inborn genetic diseases [RCV002826016]	Chr14:105250103 [GRCh38] Chr14:105716440 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.937T>G (p.Cys313Gly)	single nucleotide variant	Inborn genetic diseases [RCV002827596]	Chr14:105249992 [GRCh38] Chr14:105716329 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.979C>T (p.His327Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002956710]	Chr14:105250034 [GRCh38] Chr14:105716371 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1222G>C (p.Gly408Arg)	single nucleotide variant	Inborn genetic diseases [RCV002896335]	Chr14:105250277 [GRCh38] Chr14:105716614 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1337G>A (p.Arg446Gln)	single nucleotide variant	Inborn genetic diseases [RCV002936532]	Chr14:105250392 [GRCh38] Chr14:105716729 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.992G>A (p.Arg331Gln)	single nucleotide variant	Inborn genetic diseases [RCV002835817]	Chr14:105250047 [GRCh38] Chr14:105716384 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.313C>T (p.Leu105Phe)	single nucleotide variant	Inborn genetic diseases [RCV002808568]	Chr14:105249024 [GRCh38] Chr14:105715361 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1391G>A (p.Ser464Asn)	single nucleotide variant	Inborn genetic diseases [RCV002878067]	Chr14:105250446 [GRCh38] Chr14:105716783 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1018A>G (p.Thr340Ala)	single nucleotide variant	Inborn genetic diseases [RCV002655460]	Chr14:105250073 [GRCh38] Chr14:105716410 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1184A>C (p.Gln395Pro)	single nucleotide variant	Inborn genetic diseases [RCV003277881]	Chr14:105250239 [GRCh38] Chr14:105716576 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.547C>T (p.Pro183Ser)	single nucleotide variant	Inborn genetic diseases [RCV003209458]	Chr14:105249441 [GRCh38] Chr14:105715778 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.1156C>T (p.Leu386Phe)	single nucleotide variant	Inborn genetic diseases [RCV003212658]	Chr14:105250211 [GRCh38] Chr14:105716548 [GRCh37] Chr14:14q32.33	uncertain significance
NM_001387567.1(BTBD6):c.972C>G (p.Asn324Lys)	single nucleotide variant	Inborn genetic diseases [RCV003183073]	Chr14:105250027 [GRCh38] Chr14:105716364 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	copy number loss	not provided [RCV003323337]	Chr14:103636647..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	copy number loss	Neurodevelopmental disorder [RCV003327606]	Chr14:102263440..106874929 [GRCh38] Chr14:14q32.31-32.33	pathogenic
NM_001387567.1(BTBD6):c.683G>A (p.Cys228Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003356645]	Chr14:105249738 [GRCh38] Chr14:105716075 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	copy number loss	not provided [RCV003483217]	Chr14:101024609..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	copy number gain	not provided [RCV003485055]	Chr14:105122914..107285437 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	copy number gain	not provided [RCV003485036]	Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33	pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	copy number gain	not provided [RCV003485051]	Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33	pathogenic
NM_001387567.1(BTBD6):c.1182C>T (p.Phe394=)	single nucleotide variant	not provided [RCV003426420]	Chr14:105250237 [GRCh38] Chr14:105716574 [GRCh37] Chr14:14q32.33	benign
NM_001387567.1(BTBD6):c.618C>G (p.Ala206=)	single nucleotide variant	not provided [RCV003426418]	Chr14:105249673 [GRCh38] Chr14:105716010 [GRCh37] Chr14:14q32.33	likely benign
NM_001387567.1(BTBD6):c.933G>A (p.Ala311=)	single nucleotide variant	not provided [RCV003426419]	Chr14:105249988 [GRCh38] Chr14:105716325 [GRCh37] Chr14:14q32.33	likely benign
NM_001387567.1(BTBD6):c.1462G>A (p.Val488Ile)	single nucleotide variant	not provided [RCV003426421]	Chr14:105250517 [GRCh38] Chr14:105716854 [GRCh37] Chr14:14q32.33	likely benign
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	copy number loss	not specified [RCV003987056]	Chr14:102098959..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1340
Count of miRNA genes:	517
Interacting mature miRNAs:	572
Transcripts:	ENST00000327471, ENST00000392553, ENST00000392554, ENST00000463376, ENST00000536364, ENST00000537513
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

G54046

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	105,717,190 - 105,717,322	UniSTS	GRCh37
Build 36	14	104,788,235 - 104,788,367	RGD	NCBI36
Celera	14	85,766,428 - 85,766,560	RGD
Cytogenetic Map	14	q	UniSTS
Cytogenetic Map	14	q32	UniSTS
HuRef	14	85,914,392 - 85,914,524	UniSTS

SGC31908

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	105,717,278 - 105,717,422	UniSTS	GRCh37
GRCh37	1	24,227,543 - 24,227,687	UniSTS	GRCh37
Build 36	1	24,100,130 - 24,100,274	RGD	NCBI36
Celera	1	22,558,327 - 22,558,471	RGD
Celera	14	85,766,516 - 85,766,660	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	14	q	UniSTS
HuRef	1	22,480,848 - 22,480,992	UniSTS
HuRef	14	85,914,480 - 85,914,624	UniSTS
GeneMap99-GB4 RH Map	14	284.13	UniSTS
Whitehead-RH Map	14	371.2	UniSTS
NCBI RH Map	14	1118.3	UniSTS

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

2429

2871

1702

601

1816

443

4344

2171

3696

407

1439

1600

173

1204

2788

Low

120

126

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_029489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001387567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_033271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF086420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF173358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF353674	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL512355	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC042525	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU730253	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB456488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ900940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000327471 ⟹ ENSP00000329361

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	105,248,671 - 105,251,084 (+)	Ensembl

RefSeq Acc Id:

ENST00000392553

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	105,249,188 - 105,250,296 (+)	Ensembl

RefSeq Acc Id:

ENST00000392554 ⟹ ENSP00000376337

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	105,248,533 - 105,251,093 (+)	Ensembl

RefSeq Acc Id:

ENST00000463376 ⟹ ENSP00000418150

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	105,248,626 - 105,251,093 (+)	Ensembl

RefSeq Acc Id:

ENST00000536364 ⟹ ENSP00000443091

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	105,248,538 - 105,251,093 (+)	Ensembl

RefSeq Acc Id:

ENST00000537513 ⟹ ENSP00000446223

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	105,248,538 - 105,250,437 (+)	Ensembl

RefSeq Acc Id:

NM_001387567 ⟹ NP_001374496

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	105,248,533 - 105,251,093 (+)	NCBI
T2T-CHM13v2.0	14	99,495,394 - 99,497,954 (+)	NCBI

Sequence:

show sequence

GCAGCGTGACGCACCGGCGCCGCGGCGGGTACGGGCTCGGGCGGGCGGGCGGGCGGGACGGCGC
CCCCCGCGGCCGGGCCTGGCCGGGCTGCGCTAGGCTGGGCTCGGGCAGGGTCGCAGGGGCGGGG
GTGGCAGGGGAGCGGGTGGCAGCCCCGCGGGTCACAGCGCCGCCGCCGCCCATGCTGCTGCCCC
TAGCCTGCCTGCACGGCCGCGTCGCTCAGTGCCTGACCTCCTTGCTTTTGCTTGCAGAGCCGCT
CCCGAGGCCCCGGCGCGGCGCGAGGGCGCGGGGCGCGGCGTCCACAGGCGCCGAGGCTGCCCCC
GCCGCCCCGCCCGCGAAGATGGCGGCGGAACTCTACGCTCCCGCCAGCGCCGCGGCCGCGGACC
TAGCCAACAGCAACGCCGGCGCCGCCGTGGGCAGGAAGGCCGGGCCGCGCAGCCCGCCCAGCGC
CCCCGCGCCAGCGCCGCCGCCGCCCGCGCCCGCGCCGCCCACACTCGGCAACAACCACCAGGAG
AGCCCCGGCTGGCGGTGCTGCCGCCCCACGCTGCGCGAGAGGAACGCGCTCATGTTCAACAACG
AGCTCATGGCCGACGTGCACTTCGTCGTGGGGCCCCCGGGGGCGACCAGGACGGTGCCCGCCCA
CAAGTACGTCTTGGCTGTCGGCAGCTCCGTCTTCTATGCCATGTTCTACGGAGACCTGGCGGAA
GTCAAATCTGAAATTCACATTCCAGACGTGGAGCCCGCAGCCTTTCTGATCCTCTTAAAGTACA
TGTACAGTGATGAGATCGATCTGGAAGCCGACACGGTGCTGGCCACTCTGTACGCTGCTAAGAA
GTACATCGTCCCAGCATTGGCAAAAGCCTGTGTCAACTTTCTGGAGACAAGTTTGGAAGCCAAG
AACGCCTGCGTCCTGCTGTCCCAGAGCCGGCTGTTTGAGGAGCCCGAGCTGACGCAGCGCTGCT
GGGAGGTCATTGACGCACAGGCCGAGATGGCCCTACGGTCCGAAGGCTTCTGTGAGATAGACCG
GCAGACGCTGGAGATCATTGTCACTCGGGAGGCCCTCAACACCAAAGAGGCGGTGGTCTTCGAG
GCCGTCCTGAACTGGGCCGAGGCGGAGTGCAAGAGGCAGGGGCTGCCAATCACCCCACGAAACA
AGAGGCATGTTCTGGGGCGAGCCCTCTATCTGGTCCGAATTCCAACCATGACCCTAGAGGAGTT
TGCCAACGGCGCTGCCCAGTCAGACATCCTGACTCTGGAGGAGACCCACAGCATCTTCCTGTGG
TACACGGCCACCAACAAGCCCCGCCTGGACTTTCCCCTGACCAAGAGGAAGGGCCTCGCCCCGC
AGAGGTGCCACCGATTCCAGTCTTCTGCCTACCGCAGCAACCAGTGGCGGTACCGCGGGCGCTG
CGACAGCATCCAGTTTGCAGTGGACAGAAGGGTATTTATTGCAGGGCTGGGCCTGTATGGCTCC
AGCTCTGGGAAGGCTGAGTACAGCGTGAAGATTGAGCTCAAGCGGCTCGGGGTGGTTCTGGCTC
AGAACTTGACCAAGTTCATGTCAGACGGATCCAGTAACACCTTCCCGGTCTGGTTTGAACACCC
GGTCCAGGTTGAACAAGACACCTTCTACACGGCCAGTGCCGTCCTGGACGGCAGCGAACTCAGC
TACTTTGGGCAGGAGGGGATGACGGAAGTGCAGTGTGGAAAGGTGGCCTTCCAGTTCCAGTGCT
CCTCGGACAGCACCAACGGGACTGGGGTCCAGGGTGGGCAGATCCCTGAGCTCATTTTCTATGC
CTGAGGTGCCCGGGGAGGCTGCAGCAGGTCAGCGAGTGAGTGGAGGGGAAGTCAAGATGCTAAC
TGCTTCTTGACACCATGAAAGGCTGCTCTTAACTTTGTCTCTCTTTGACATGTAGTCAGCTGAA
GCTTGACTGTGTAGAGACATTTTCCACACAGCCAGAACCCAGGGATTGGAGTCTTAGGCATCTC
TGGTACAGTGGGGTGCACGTCTCAGGTGGAGGAAGATTTACGGCTCAAGACAGGCCCCAGATCC
CCTCCCAGTGGCACCCATGCCACCTGCTTTGAGGGGTTGGATCTTCCTGCTACCCTCTTGGATT
CTAAGTGGTTCCAAGCTTAACTTGAGACCTTCCCTTCAAATCTAAAATTGGCAAAAAGTCACTT
AAAATAGTGGACTTCTGTAATAAAGGTTGCCTAAAATAACA

hide sequence

RefSeq Acc Id:

NM_033271 ⟹ NP_150374

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	105,248,533 - 105,251,093 (+)	NCBI
GRCh37	14	105,714,879 - 105,717,430 (+)	RGD
Build 36	14	104,786,053 - 104,788,474 (+)	NCBI Archive
Celera	14	85,764,120 - 85,766,668 (+)	RGD
HuRef	14	85,905,116 - 85,914,632 (+)	ENTREZGENE
CHM1_1	14	105,644,856 - 105,647,407 (+)	NCBI
T2T-CHM13v2.0	14	99,495,394 - 99,497,954 (+)	NCBI

Sequence:

show sequence

GCAGCGTGACGCACCGGCGCCGCGGCGGAGCCGCTCCCGAGGCCCCGGCGCGGCGCGAGGGCGC
GGGGCGCGGCGTCCACAGGCGCCGAGGCTGCCCCCGCCGCCCCGCCCGCGAAGATGGCGGCGGA
ACTCTACGCTCCCGCCAGCGCCGCGGCCGCGGACCTAGCCAACAGCAACGCCGGCGCCGCCGTG
GGCAGGAAGGCCGGGCCGCGCAGCCCGCCCAGCGCCCCCGCGCCAGCGCCGCCGCCGCCCGCGC
CCGCGCCGCCCACACTCGGCAACAACCACCAGGAGAGCCCCGGCTGGCGGTGCTGCCGCCCCAC
GCTGCGCGAGAGGAACGCGCTCATGTTCAACAACGAGCTCATGGCCGACGTGCACTTCGTCGTG
GGGCCCCCGGGGGCGACCAGGACGGTGCCCGCCCACAAGTACGTCTTGGCTGTCGGCAGCTCCG
TCTTCTATGCCATGTTCTACGGAGACCTGGCGGAAGTCAAATCTGAAATTCACATTCCAGACGT
GGAGCCCGCAGCCTTTCTGATCCTCTTAAAGTACATGTACAGTGATGAGATCGATCTGGAAGCC
GACACGGTGCTGGCCACTCTGTACGCTGCTAAGAAGTACATCGTCCCAGCATTGGCAAAAGCCT
GTGTCAACTTTCTGGAGACAAGTTTGGAAGCCAAGAACGCCTGCGTCCTGCTGTCCCAGAGCCG
GCTGTTTGAGGAGCCCGAGCTGACGCAGCGCTGCTGGGAGGTCATTGACGCACAGGCCGAGATG
GCCCTACGGTCCGAAGGCTTCTGTGAGATAGACCGGCAGACGCTGGAGATCATTGTCACTCGGG
AGGCCCTCAACACCAAAGAGGCGGTGGTCTTCGAGGCCGTCCTGAACTGGGCCGAGGCGGAGTG
CAAGAGGCAGGGGCTGCCAATCACCCCACGAAACAAGAGGCATGTTCTGGGGCGAGCCCTCTAT
CTGGTCCGAATTCCAACCATGACCCTAGAGGAGTTTGCCAACGGCGCTGCCCAGTCAGACATCC
TGACTCTGGAGGAGACCCACAGCATCTTCCTGTGGTACACGGCCACCAACAAGCCCCGCCTGGA
CTTTCCCCTGACCAAGAGGAAGGGCCTCGCCCCGCAGAGGTGCCACCGATTCCAGTCTTCTGCC
TACCGCAGCAACCAGTGGCGGTACCGCGGGCGCTGCGACAGCATCCAGTTTGCAGTGGACAGAA
GGGTATTTATTGCAGGGCTGGGCCTGTATGGCTCCAGCTCTGGGAAGGCTGAGTACAGCGTGAA
GATTGAGCTCAAGCGGCTCGGGGTGGTTCTGGCTCAGAACTTGACCAAGTTCATGTCAGACGGA
TCCAGTAACACCTTCCCGGTCTGGTTTGAACACCCGGTCCAGGTTGAACAAGACACCTTCTACA
CGGCCAGTGCCGTCCTGGACGGCAGCGAACTCAGCTACTTTGGGCAGGAGGGGATGACGGAAGT
GCAGTGTGGAAAGGTGGCCTTCCAGTTCCAGTGCTCCTCGGACAGCACCAACGGGACTGGGGTC
CAGGGTGGGCAGATCCCTGAGCTCATTTTCTATGCCTGAGGTGCCCGGGGAGGCTGCAGCAGGT
CAGCGAGTGAGTGGAGGGGAAGTCAAGATGCTAACTGCTTCTTGACACCATGAAAGGCTGCTCT
TAACTTTGTCTCTCTTTGACATGTAGTCAGCTGAAGCTTGACTGTGTAGAGACATTTTCCACAC
AGCCAGAACCCAGGGATTGGAGTCTTAGGCATCTCTGGTACAGTGGGGTGCACGTCTCAGGTGG
AGGAAGATTTACGGCTCAAGACAGGCCCCAGATCCCCTCCCAGTGGCACCCATGCCACCTGCTT
TGAGGGGTTGGATCTTCCTGCTACCCTCTTGGATTCTAAGTGGTTCCAAGCTTAACTTGAGACC
TTCCCTTCAAATCTAAAATTGGCAAAAAGTCACTTAAAATAGTGGACTTCTGTAATAAAGGTTG
CCTAAAATAACA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001374496	(Get FASTA)	NCBI Sequence Viewer
	NP_150374	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF36536	(Get FASTA)	NCBI Sequence Viewer
	AAH06414	(Get FASTA)	NCBI Sequence Viewer
	AAH42525	(Get FASTA)	NCBI Sequence Viewer
	AAK39520	(Get FASTA)	NCBI Sequence Viewer
	ADO22457	(Get FASTA)	NCBI Sequence Viewer
	EAW81913	(Get FASTA)	NCBI Sequence Viewer
	EAW81914	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000376337
	ENSP00000376337.4
	ENSP00000418150.3
	ENSP00000443091
	ENSP00000443091.1
GenBank Protein	Q96KE9	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_150374 ⟸ NM_033271
- Peptide Label:	isoform 1
- UniProtKB:	A0A384NYR4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAELYAPASAAAADLANSNAGAAVGRKAGPRSPPSAPAPAPPPPAPAPPTLGNNHQESPGWRC CRPTLRERNALMFNNELMADVHFVVGPPGATRTVPAHKYVLAVGSSVFYAMFYGDLAEVKSEIH IPDVEPAAFLILLKYMYSDEIDLEADTVLATLYAAKKYIVPALAKACVNFLETSLEAKNACVLL SQSRLFEEPELTQRCWEVIDAQAEMALRSEGFCEIDRQTLEIIVTREALNTKEAVVFEAVLNWA EAECKRQGLPITPRNKRHVLGRALYLVRIPTMTLEEFANGAAQSDILTLEETHSIFLWYTATNK PRLDFPLTKRKGLAPQRCHRFQSSAYRSNQWRYRGRCDSIQFAVDRRVFIAGLGLYGSSSGKAE YSVKIELKRLGVVLAQNLTKFMSDGSSNTFPVWFEHPVQVEQDTFYTASAVLDGSELSYFGQEG MTEVQCGKVAFQFQCSSDSTNGTGVQGGQIPELIFYA hide sequence

RefSeq Acc Id:

ENSP00000418150 ⟸ ENST00000463376

RefSeq Acc Id:

ENSP00000443091 ⟸ ENST00000536364

RefSeq Acc Id:

ENSP00000446223 ⟸ ENST00000537513

RefSeq Acc Id:

ENSP00000329361 ⟸ ENST00000327471

RefSeq Acc Id:

ENSP00000376337 ⟸ ENST00000392554

RefSeq Acc Id:	NP_001374496 ⟸ NM_001387567
- Peptide Label:	isoform 2 precursor
- UniProtKB:	Q96KE9 (UniProtKB/Swiss-Prot), Q8IVQ7 (UniProtKB/Swiss-Prot), Q9BR94 (UniProtKB/Swiss-Prot), A0A8C8KHP4 (UniProtKB/TrEMBL)

Protein Domains

BTB

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96KE9-F1-model_v2	AlphaFold	Q96KE9	1-538	view protein structure

Promoters

RGD ID:

6791305

Promoter ID:

HG_KWN:20405

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

ENST00000327471, ENST00000392554, NM_033271, UC001YQQ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	104,785,816 - 104,786,316 (+)	MPROMDB

RGD ID:

7228789

Promoter ID:

EPDNEW_H20140

Type:

initiation region

Name:

BTBD6_1

Description:

BTB domain containing 6

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	105,248,533 - 105,248,593	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:19897	AgrOrtholog
COSMIC	BTBD6	COSMIC
Ensembl Genes	ENSG00000184887	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000392554	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000392554.8	UniProtKB/Swiss-Prot
	ENST00000463376.6	UniProtKB/Swiss-Prot
	ENST00000536364	ENTREZGENE
	ENST00000536364.6	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.420	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.60.120.820	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000184887	GTEx
HGNC ID	HGNC:19897	ENTREZGENE
Human Proteome Map	BTBD6	Human Proteome Map
InterPro	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB/POZ_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB_POZ_BTBD6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PHR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PHR_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SKP1/BTB/POZ_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:90135	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	90135	ENTREZGENE
PANTHER	BTB/POZ DOMAIN-CONTAINING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB/POZ DOMAIN-CONTAINING PROTEIN 6	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PHR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA128394741	PharmGKB
PROSITE	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	BACK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BTB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF54695	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A384NYR4	ENTREZGENE, UniProtKB/TrEMBL
	A0A8C8KHP4	ENTREZGENE, UniProtKB/TrEMBL
	BTBD6_HUMAN	UniProtKB/Swiss-Prot
	Q8IVQ7	ENTREZGENE
	Q96KE9	ENTREZGENE
	Q9BR94	ENTREZGENE
UniProt Secondary	Q8IVQ7	UniProtKB/Swiss-Prot
	Q9BR94	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	BTBD6	BTB domain containing 6		BTB (POZ) domain containing 6	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar