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Gene: FKBP6 (FKBP prolyl isomerase family member 6 (inactive)) Homo sapiens

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Symbol:

FKBP6

Name:

FKBP prolyl isomerase family member 6 (inactive)

RGD ID:

1318976

HGNC Page

HGNC:3722

Description:

Enables identical protein binding activity. Involved in positive regulation of viral genome replication. Located in several cellular components, including fibrillar center; intercellular bridge; and microtubule cytoskeleton. Implicated in Williams-Beuren syndrome and spermatogenic failure 77.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

36 kDa FK506-binding protein; 36 kDa FKBP; FK506 binding protein 6; FK506 binding protein 6, 36kDa; FK506-binding protein 6; FK506-binding protein 6 (36kD); FKBP prolyl isomerase 6; FKBP-36; FKBP-6; FKBP36; immunophilin FKBP36; inactive peptidyl-prolyl cis-trans isomerase FKBP6; inactive PPIase FKBP6; MGC87179; peptidyl-prolyl cis-trans isomerase FKBP6; peptidylprolyl cis-trans isomerase; PPIase; PPIase FKBP6; rotamase; SPGF77

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

FKBP6P1 FKBP6P2

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	7	73,328,161 - 73,358,625 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	73,328,161 - 73,358,637 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	72,742,164 - 72,772,634 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	72,380,236 - 72,410,577 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	71,884,933 - 72,217,283	NCBI
Celera	7	68,220,437 - 68,250,915 (+)	NCBI		Celera
Cytogenetic Map	7	q11.23	NCBI
HuRef	7	68,623,892 - 68,654,372 (+)	NCBI		HuRef
CHM1_1	7	72,888,174 - 72,918,659 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	72,075,227 - 72,105,718 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	male infertility		ISO	Fkbp6 (Rattus norvegicus)	1582485	DNA:deletion:exon (rat)	RGD
FKBP6	Human	male infertility		ISO	Fkbp6 (Mus musculus)	1582485		RGD
FKBP6	Human	Williams-Beuren syndrome		IAGP		1582483		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	autism spectrum disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:21658581 more ...
FKBP6	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
FKBP6	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
FKBP6	Human	intestinal volvulus		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: INTESTINAL MALROTATION and FAMILIAL	ClinVar	PMID:25741868
FKBP6	Human	male infertility		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Male infertility	ClinVar	PMID:25741868 and PMID:36150389
FKBP6	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
FKBP6	Human	pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358
FKBP6	Human	schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311
FKBP6	Human	spermatogenic failure 77		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Spermatogenic failure 77	ClinVar	PMID:25741868 and PMID:36150389
FKBP6	Human	Volvulus Of Midgut		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Volvulus of midgut	ClinVar	PMID:25741868
FKBP6	Human	Williams-Beuren syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Williams syndrome	ClinVar	PMID:25741868
FKBP6	Human	Williams-Beuren syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Williams syndrome	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	spermatogenic failure 77		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Fkbp6 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FKBP6 mRNA	CTD	PMID:17942748
FKBP6	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Fkbp6 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FKBP6 mRNA	CTD	PMID:17942748
FKBP6	Human	4,4'-sulfonyldiphenol	affects methylation	ISO	Fkbp6 (Mus musculus)	6480464	bisphenol S affects the methylation of FKBP6 gene	CTD	PMID:31683443
FKBP6	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of FKBP6 mRNA	CTD	PMID:22316170
FKBP6	Human	Benzo[ghi]perylene	increases expression	ISO	Fkbp6 (Mus musculus)	6480464	1 and 12-benzoperylene results in increased expression of FKBP6 mRNA	CTD	PMID:26377693
FKBP6	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	Fkbp6 (Mus musculus)	6480464	Diethylhexyl Phthalate results in decreased expression of FKBP6 mRNA	CTD	PMID:25975992
FKBP6	Human	bisphenol A	decreases expression	ISO	Fkbp6 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of FKBP6 mRNA	CTD	PMID:25181051
FKBP6	Human	bisphenol A	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of FKBP6 gene	CTD	PMID:31601247
FKBP6	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of FKBP6 mRNA	CTD	PMID:29275510
FKBP6	Human	chlorpyrifos	increases expression	ISO	Fkbp6 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of FKBP6 mRNA	CTD	PMID:37019170
FKBP6	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of FKBP6 mRNA	CTD	PMID:27392435
FKBP6	Human	crocidolite asbestos	increases expression	ISO	Fkbp6 (Mus musculus)	6480464	Asbestos and Crocidolite results in increased expression of FKBP6 mRNA	CTD	PMID:29279043
FKBP6	Human	folic acid	affects expression	ISO	Fkbp6 (Mus musculus)	6480464	Folic Acid affects the expression of FKBP6 mRNA	CTD	PMID:25629700
FKBP6	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol A co-treated with Fulvestrant] results in decreased methylation of FKBP6 gene	CTD	PMID:31601247
FKBP6	Human	levonorgestrel	multiple interactions	EXP		6480464	[testosterone undecanoate co-treated with Levonorgestrel] results in increased expression of FKBP6 mRNA	CTD	PMID:19074003
FKBP6	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of FKBP6 mRNA	CTD	PMID:26690555
FKBP6	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of FKBP6 mRNA	CTD	PMID:29301061
FKBP6	Human	sodium arsenite	decreases expression	ISO	Fkbp6 (Mus musculus)	6480464	sodium arsenite results in decreased expression of FKBP6 mRNA	CTD	PMID:37682722
FKBP6	Human	testosterone undecanoate	increases expression	EXP		6480464	testosterone undecanoate results in increased expression of FKBP6 mRNA	CTD	PMID:19074003
FKBP6	Human	testosterone undecanoate	multiple interactions	EXP		6480464	[testosterone undecanoate co-treated with Levonorgestrel] results in increased expression of FKBP6 mRNA	CTD	PMID:19074003
FKBP6	Human	titanium dioxide	increases methylation	ISO	Fkbp6 (Mus musculus)	6480464	titanium dioxide results in increased methylation of FKBP6 promoter alternative form	CTD	PMID:35295148
FKBP6	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of FKBP6 mRNA	CTD	PMID:28818685
FKBP6	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of FKBP6 gene	CTD	PMID:29154799

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	cell differentiation	involved_in	IEA	UniProtKB-KW:KW-0221	150520179		UniProt	GO_REF:0000043
FKBP6	Human	meiotic cell cycle	involved_in	IEA	UniProtKB-KW:KW-0469	150520179		UniProt	GO_REF:0000043
FKBP6	Human	meiotic cell cycle	involved_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	meiotic cell cycle	involved_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	piRNA processing	involved_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	piRNA processing	involved_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	piRNA processing	involved_in	IBA	FB:FBgn0003401 more ...	150520179		GO_Central	GO_REF:0000033
FKBP6	Human	positive regulation of viral genome replication	involved_in	IMP		150520179	PMID:26567527	AgBase	PMID:26567527
FKBP6	Human	protein folding	involved_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	protein folding	involved_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	protein folding	involved_in	TAS		150520179	PMID:9782077	PINC	PMID:9782077
FKBP6	Human	regulatory ncRNA-mediated gene silencing	involved_in	IEA	UniProtKB-KW:KW-0943	150520179		UniProt	GO_REF:0000043
FKBP6	Human	regulatory ncRNA-mediated gene silencing	involved_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	regulatory ncRNA-mediated gene silencing	involved_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	spermatogenesis		ISO	Fkbp6 (Rattus norvegicus)	9068941		RGD	PMID:12764197 and REF_RGD_ID:1582485
FKBP6	Human	spermatogenesis	involved_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	spermatogenesis	involved_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	spermatogenesis	involved_in	IEA	UniProtKB-KW:KW-0744	150520179		UniProt	GO_REF:0000043
FKBP6	Human	spermatogenesis	involved_in	IBA	MGI:2137612 more ...	150520179		GO_Central	GO_REF:0000033
FKBP6	Human	transposable element silencing by piRNA-mediated DNA methylation	involved_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	transposable element silencing by piRNA-mediated DNA methylation	involved_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	cytoplasm	located_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	cytoplasm	located_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	cytoplasm	is_active_in	IBA	FB:FBgn0003401 more ...	150520179		GO_Central	GO_REF:0000033
FKBP6	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
FKBP6	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
FKBP6	Human	cytosol	located_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	cytosol	located_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
FKBP6	Human	fibrillar center	located_in	IDA		150520179		HPA	GO_REF:0000052
FKBP6	Human	intercellular bridge	located_in	IDA		150520179		HPA	GO_REF:0000052
FKBP6	Human	microtubule cytoskeleton	located_in	IDA		150520179		HPA	GO_REF:0000052
FKBP6	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
FKBP6	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
FKBP6	Human	synaptonemal complex	located_in	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	synaptonemal complex	located_in	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	FK506 binding	enables	TAS		150520179	PMID:9782077	PINC	PMID:9782077
FKBP6	Human	Hsp90 protein binding	enables	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	Hsp90 protein binding	enables	IEA	UniProtKB:Q91XW8 and ensembl:ENSMUSP00000144381	150520179		Ensembl	GO_REF:0000107
FKBP6	Human	Hsp90 protein binding	enables	IBA	MGI:2137612 and PANTHER:PTN000828519	150520179		GO_Central	GO_REF:0000033
FKBP6	Human	identical protein binding	enables	IPI	UniProtKB:O75344	150520179	PMID:26567527 and PMID:32296183	IntAct	PMID:26567527 and PMID:32296183
FKBP6	Human	isomerase activity	enables	IEA	UniRule:UR000413783	150520179		UniProt	GO_REF:0000104
FKBP6	Human	isomerase activity	enables	IEA	UniProtKB-KW:KW-0413	150520179		UniProt	GO_REF:0000043
FKBP6	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	EC:5.2.1.8	150520179		UniProt	GO_REF:0000003
FKBP6	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	InterPro:IPR001179 and InterPro:IPR046357	150520179		InterPro	GO_REF:0000002
FKBP6	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	UniProtKB-KW:KW-0697	150520179		UniProt	GO_REF:0000043
FKBP6	Human	peptidyl-prolyl cis-trans isomerase activity	enables	IEA	RHEA:16237	150520179		RHEA	GO_REF:0000116
FKBP6	Human	peptidyl-prolyl cis-trans isomerase activity	NOT\|enables	ISS	UniProtKB:Q91XW8	150520179		UniProt	GO_REF:0000024
FKBP6	Human	protein binding	enables	IPI	UniProtKB:P22059	150520179	PMID:28514442 and PMID:33961781	IntAct	PMID:28514442 and PMID:33961781
FKBP6	Human	protein binding	enables	IPI	UniProtKB:O75344 more ...	150520179	PMID:26567527	AgBase	PMID:26567527
FKBP6	Human	protein binding	enables	IPI	UniProtKB:P04406 more ...	150520179	PMID:32814053	IntAct	PMID:32814053
FKBP6	Human	protein binding	enables	IPI	UniProtKB:G2XKQ0 more ...	150520179	PMID:25416956	IntAct	PMID:25416956
FKBP6	Human	protein binding	enables	IPI	UniProtKB:P22059 and UniProtKB:Q3UJD6-2	150520179	PMID:25036637	IntAct	PMID:25036637
FKBP6	Human	protein binding	enables	IPI	UniProtKB:Q9Y5B8	150520179	PMID:16189514	IntAct	PMID:16189514
FKBP6	Human	protein binding	enables	IPI	UniProtKB:A8MW99 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
FKBP6	Human	protein binding	enables	IPI	UniProtKB:Q8IYA8	150520179	PMID:29892012	IntAct	PMID:29892012
FKBP6	Human	protein binding	enables	IPI	UniProtKB:G2XKQ0 more ...	150520179	PMID:25910212	IntAct	PMID:25910212
FKBP6	Human	protein binding	enables	IPI	UniProtKB:Q8IYA8 more ...	150520179	PMID:31515488	IntAct	PMID:31515488
FKBP6	Human	protein binding	enables	IPI	UniProtKB:Q14318 and UniProtKB:Q9WMX2-PRO_0000037551	150520179	PMID:26567527	IntAct	PMID:26567527
FKBP6	Human	protein binding	enables	IPI	UniProtKB:P13569	150520179	PMID:35156780	IntAct	PMID:35156780

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	Abdominal pain		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal cardiac septum morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal carotid artery morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal cerebral vascular morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal circulating lipid concentration		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal circulating luteinizing hormone concentration		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Abnormal circulating testosterone concentration		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Abnormal dental enamel morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal dental morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal dermatoglyphics		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal diencephalon morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal endocardium morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal fingernail morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal form of the vertebral bodies		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal gastric mucosa morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal nervous system morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal pelvic girdle bone morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal social behavior		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal speech pattern		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormal tubulointerstitial morphology		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormality of extrapyramidal motor function		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormality of the ankle		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormality of the bladder		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormality of the cardiovascular system		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormality of the neck		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Abnormality of the voice		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Adducted thumb		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Anxiety		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Aortic arch aneurysm		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Aplasia/Hypoplasia of the iris		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Arterial stenosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Arthralgia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Ataxia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Atrial septal defect		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Atrophy/Degeneration involving the corticospinal tracts		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Attention deficit hyperactivity disorder		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Autism		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Azoospermia		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Bicuspid aortic valve		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Bladder diverticulum		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Blepharophimosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Blue irides		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Broad forehead		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Cardiomegaly		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Carious teeth		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Cataract		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Cerebral cortical atrophy		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Cerebral ischemia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Chiari malformation		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Cholelithiasis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Chronic otitis media		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Clinodactyly of the 5th finger		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Coarse facial features		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Colonic diverticula		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Compulsive behaviors		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Congestive heart failure		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Constipation		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Corneal opacity		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Cryptorchidism		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Cryptorchidism		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Death in early adulthood		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Delayed skeletal maturation		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Dental malocclusion		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Depression		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Developmental regression		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Down-sloping shoulders		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Dysarthria		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Dysgraphia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Dysmetria		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Dysphonia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Elevated circulating creatine kinase concentration		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Elevated circulating follicle stimulating hormone level		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Elfin facies		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Epicanthus		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Everted lower lip vermilion		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Failure to thrive in infancy		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Flat cornea		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Functional abnormality of male internal genitalia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Gait disturbance		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Gait imbalance		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Gastroesophageal reflux		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Genu valgum		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Gingival overgrowth		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Glaucoma		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hallux valgus		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	High forehead		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	High hypermetropia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hoarse voice		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hyperacusis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypercalcemia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypercalciuria		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hyperlordosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hyperreflexia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypertension		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypertrophic cardiomyopathy		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypodontia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypogonadotropic hypogonadism		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypoplasia of penis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypoplasia of the zygomatic bone		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypoplastic toenails		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypothyroidism		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Hypotonia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Increased bone mineral density		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Increased nuchal translucency		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Inguinal hernia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Insomnia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Involuntary movements		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Joint hypermobility		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Joint stiffness		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Kyphosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Lacrimation abnormality		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Long philtrum		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Macroglossia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Macrotia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Malabsorption		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Male infertility		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Megalocornea		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Microdontia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Micrognathia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Mitral regurgitation		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Mitral valve prolapse		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Multiflagellar spermatozoa		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Multiple renal cysts		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Myocardial infarction		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Myopathy		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Myopia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Narrow face		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Nausea and vomiting		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Nephrocalcinosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Nephrolithiasis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Nevus flammeus		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Nystagmus-induced head nodding		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Obesity		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Oligozoospermia		IAGP		8699517		HPO	MIM:620103
FKBP6	Human	Open bite		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Osteopenia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Osteoporosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Overfriendliness		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Overriding aorta		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Patellar dislocation		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Patent ductus arteriosus		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Pectus excavatum		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Pelvic kidney		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Peptic ulcer		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Periorbital edema		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Peripheral pulmonary artery stenosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Pes planus		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Phonophobia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Pointed chin		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Polycystic ovaries		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Posterior embryotoxon		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Posteriorly rotated ears		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Precocious puberty		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Prematurely aged appearance		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Proteinuria		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Protruding ear		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Pulmonic stenosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Radioulnar synostosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Rectal prolapse		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Recurrent respiratory infections		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Recurrent urinary tract infections		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Redundant skin		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Renal duplication		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Renal hypoplasia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Renal insufficiency		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Renovascular hypertension		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Retinal arteriolar tortuosity		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Sacral dimple		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Scoliosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Sensorineural hearing impairment		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Short nose		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Short stature		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Spasticity		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Spina bifida occulta		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Strabismus		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Stroke		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Sudden cardiac death		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Supravalvular aortic stenosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Synostosis of joints		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Tetralogy of Fallot		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Thick lower lip vermilion		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Tracheoesophageal fistula		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Tremor		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Type II diabetes mellitus		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Umbilical hernia		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Urethral stenosis		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Ventricular septal defect		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Vertebral segmentation defect		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Vesicoureteral reflux		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Visual impairment		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Wide mouth		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Wide nasal bridge		IAGP		8699517		HPO	ORPHA:904
FKBP6	Human	Young adult onset		IAGP		8699517		HPO	MIM:620103

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
FKBP6	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
FKBP6	Human	Autistic behavior		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:21658581 more ...
FKBP6	Human	Intestinal malrotation		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Malrotation	ClinVar	PMID:25741868
FKBP6	Human	Male infertility		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Male infertility	ClinVar	PMID:25741868 and PMID:36150389
FKBP6	Human	Male infertility		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Male infertility	ClinVar	PMID:25741868 and PMID:36150389
FKBP6	Human	Male infertility		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Male infertility	ClinVar	PMID:25741868 and PMID:36150389
FKBP6	Human	Male infertility		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Male infertility	ClinVar	PMID:25741868 and PMID:36150389
FKBP6	Human	Male infertility		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Male infertility	ClinVar	PMID:25741868 and PMID:36150389
FKBP6	Human	Pleomorphic xanthoastrocytoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	ClinVar	PMID:28299358
FKBP6	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

#	Reference Title	Reference Citation
1.	Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis.	Crackower MA, etal., Science. 2003 May 23;300(5623):1291-5.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	A novel human gene FKBP6 is deleted in Williams syndrome.	Meng X, etal., Genomics. 1998 Sep 1;52(2):130-7.
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:10631136	PMID:11322937	PMID:12477932	PMID:15489334	PMID:15696470	PMID:15770126	PMID:16189514	PMID:16227348	PMID:16344560	PMID:16983454	PMID:17307919	PMID:18529014
PMID:19001379	PMID:20378615	PMID:21044950	PMID:21873635	PMID:22082156	PMID:22610502	PMID:24241165	PMID:24705354	PMID:25036637	PMID:25260751	PMID:25416956	PMID:25910212
PMID:26186194	PMID:26567527	PMID:28514442	PMID:28604741	PMID:29892012	PMID:31391242	PMID:31515488	PMID:32296183	PMID:32814053	PMID:33961781	PMID:35156780	PMID:36150389

FKBP6
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	73,328,161 - 73,358,625 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	73,328,161 - 73,358,637 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	72,742,164 - 72,772,634 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	72,380,236 - 72,410,577 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	71,884,933 - 72,217,283	NCBI
Celera	7	68,220,437 - 68,250,915 (+)	NCBI		Celera
Cytogenetic Map	7	q11.23	NCBI
HuRef	7	68,623,892 - 68,654,372 (+)	NCBI		HuRef
CHM1_1	7	72,888,174 - 72,918,659 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	72,075,227 - 72,105,718 (+)	NCBI

Fkbp6
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	135,320,558 - 135,380,662 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	135,320,558 - 135,378,898 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	135,291,704 - 135,351,809 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	135,291,704 - 135,350,044 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	135,767,574 - 135,825,861 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	135,576,331 - 135,634,618 (-)	NCBI		MGSCv36	mm8
Celera	5	132,303,410 - 132,361,697 (-)	NCBI		Celera
Cytogenetic Map	5	G2	NCBI
cM Map	5	75.11	NCBI

Fkbp6
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	12	26,947,443 - 27,026,913 (+)	NCBI		GRCr8
mRatBN7.2	12	21,318,251 - 21,390,350 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	12	21,319,568 - 21,390,350 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	12	22,461,416 - 22,532,119 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	12	23,073,748 - 23,144,453 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	12	22,140,220 - 22,210,927 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	12	24,365,941 - 24,438,088 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	12	24,367,199 - 24,438,019 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	12	26,363,264 - 26,435,311 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	12	22,474,002 - 22,544,784 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	12	22,464,474 - 22,476,654 (+)	NCBI
Celera	12	23,082,103 - 23,152,967 (+)	NCBI		Celera
Cytogenetic Map	12	q12	NCBI

Fkbp6
(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_004955456	14,291,260 - 14,318,310 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955456	14,291,445 - 14,318,310 (-)	NCBI	ChiLan1.0	ChiLan1.0

FKBP6
(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	6	91,543,547 - 91,573,368 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	139,808,180 - 139,838,025 (-)	NCBI		NHGRI_mPanPan1
PanPan1.1	7	80,481,443 - 80,511,813 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	80,481,443 - 80,511,813 (+)	Ensembl	panpan1.1		panPan2

FKBP6
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	6,836,043 - 6,868,268 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	6,836,086 - 6,868,818 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	8,533,363 - 8,565,559 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	6,656,533 - 6,688,674 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	6,656,576 - 6,688,946 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	6,626,768 - 6,658,955 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	6,589,432 - 6,621,560 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	6,752,768 - 6,784,970 (-)	NCBI		UU_Cfam_GSD_1.0

Fkbp6
(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_024409344	131,367,109 - 131,398,573 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936543	2,638,016 - 2,646,589 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936543	2,638,189 - 2,646,589 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FKBP6
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	10,669,664 - 10,682,618 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	10,659,456 - 10,716,210 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	10,365,246 - 10,407,830 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FKBP6
(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	28	9,688,493 - 9,718,633 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666070	6,744,849 - 6,774,903 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Fkbp6
(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_004624740	14,369,164 - 14,400,480 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624740	14,369,214 - 14,400,560 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in FKBP6
40 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	copy number loss	See cases [RCV000050709]	Chr7:71225344..81735657 [GRCh38] Chr7:70690330..81364973 [GRCh37] Chr7:70328266..81202909 [NCBI36] Chr7:7q11.22-21.11	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	copy number gain	See cases [RCV000050379]	Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	copy number loss	See cases [RCV000050382]	Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	copy number loss	See cases [RCV000051134]	Chr7:73352304..74924037 [GRCh38] Chr7:72766313..74339044 [GRCh37] Chr7:72404249..73976980 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:72930548-74869255)x1	copy number loss	See cases [RCV000050996]	Chr7:72930548..74869255 [GRCh38] Chr7:72401086..74285345 [GRCh37] Chr7:72039022..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74869255)x1	copy number loss	See cases [RCV000050999]	Chr7:73352304..74869255 [GRCh38] Chr7:72766313..74285345 [GRCh37] Chr7:72404249..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.21-21.11(chr7:64560824-79186156)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052318]\|See cases [RCV000052318]	Chr7:64560824..79186156 [GRCh38] Chr7:64021202..78815472 [GRCh37] Chr7:63658637..78653408 [NCBI36] Chr7:7q11.21-21.11	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	copy number loss	See cases [RCV000052321]	Chr7:68668307..73710276 [GRCh38] Chr7:68133294..72806397 [GRCh37] Chr7:67771230..72762542 [NCBI36] Chr7:7q11.22-11.23	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:72649515-75361855)x3	copy number gain	See cases [RCV000051965]	Chr7:72649515..75361855 [GRCh38] Chr7:72196405..74991125 [GRCh37] Chr7:71752436..74829061 [NCBI36] Chr7:7q11.22-11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:72768821-74869255)x3	copy number gain	See cases [RCV000051966]	Chr7:72768821..74869255 [GRCh38] Chr7:72233835..74285345 [GRCh37] Chr7:71871771..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	copy number gain	See cases [RCV000051967]	Chr7:73280574..74725240 [GRCh38] Chr7:72665462..74139573 [GRCh37] Chr7:72303398..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74725240)x3	copy number gain	See cases [RCV000051986]	Chr7:73280574..74725240 [GRCh38] Chr7:72679397..74139573 [GRCh37] Chr7:72317333..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74839100)x3	copy number gain	See cases [RCV000051989]	Chr7:73280574..74839100 [GRCh38] Chr7:72683244..74267189 [GRCh37] Chr7:72321180..73905125 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73312575-74723034)x3	copy number gain	See cases [RCV000051990]	Chr7:73312575..74723034 [GRCh38] Chr7:72726571..74137354 [GRCh37] Chr7:72364507..73775290 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74924178)x3	copy number gain	See cases [RCV000051991]	Chr7:73352104..74924178 [GRCh38] Chr7:72766113..74339185 [GRCh37] Chr7:72404049..73977121 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	copy number loss	See cases [RCV000053133]	Chr7:73096542..74727989 [GRCh38] Chr7:72507129..74142327 [GRCh37] Chr7:72145065..73780263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74723034)x1	copy number loss	See cases [RCV000053143]	Chr7:73280574..74723034 [GRCh38] Chr7:72681397..74137354 [GRCh37] Chr7:72319333..73775290 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74723034)x1	copy number loss	See cases [RCV000053144]	Chr7:73286412..74723034 [GRCh38] Chr7:72700414..74137354 [GRCh37] Chr7:72338350..73775290 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x3	copy number gain	See cases [RCV000053146]	Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74725240)x1	copy number loss	See cases [RCV000053147]	Chr7:73286412..74725240 [GRCh38] Chr7:72700414..74139573 [GRCh37] Chr7:72338350..73777509 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74707848)x1	copy number loss	See cases [RCV000053150]	Chr7:73286412..74707848 [GRCh38] Chr7:72700414..74122179 [GRCh37] Chr7:72338350..73760115 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x3	copy number gain	See cases [RCV000053151]	Chr7:73352104..74719154 [GRCh38] Chr7:72766113..74133473 [GRCh37] Chr7:72404049..73771409 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352104-74719154)x1	copy number loss	See cases [RCV000053152]	Chr7:73352104..74719154 [GRCh38] Chr7:72766113..74133473 [GRCh37] Chr7:72404049..73771409 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	copy number loss	See cases [RCV000054111]	Chr7:69382353..77823832 [GRCh38] Chr7:68847339..77453149 [GRCh37] Chr7:68485275..77291085 [NCBI36] Chr7:7q11.22-11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74133404)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054116]\|See cases [RCV000054116]	Chr7:73352304..74133404 [GRCh38] Chr7:72404249..73185670 [NCBI36] Chr7:7q11.23	pathogenic
NM_001135211.2(FKBP6):c.636C>T (p.Ala212=)	single nucleotide variant	Malignant melanoma [RCV000067933]	Chr7:73340700 [GRCh38] Chr7:72754702 [GRCh37] Chr7:72392638 [NCBI36] Chr7:7q11.23	not provided
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	copy number loss	See cases [RCV000133638]	Chr7:73352304..76722261 [GRCh38] Chr7:72766313..76351578 [GRCh37] Chr7:72404249..76189514 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73304255-74718954)x1	copy number loss	See cases [RCV000134329]	Chr7:73304255..74718954 [GRCh38] Chr7:72718252..74133273 [GRCh37] Chr7:72356188..73771209 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73324677-73352304)x3	copy number gain	See cases [RCV000134603]	Chr7:73324677..73352304 [GRCh38] Chr7:72738675..72766313 [GRCh37] Chr7:72376611..72404249 [NCBI36] Chr7:7q11.23	benign
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	copy number loss	See cases [RCV000135816]	Chr7:71461127..73614730 [GRCh38] Chr7:70926112..72806397 [GRCh37] Chr7:70564048..72666996 [NCBI36] Chr7:7q11.22-11.23	pathogenic\|likely pathogenic
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	copy number gain	See cases [RCV000135712]	Chr7:73040501..75255046 [GRCh38] Chr7:74285295..76351578 [GRCh37] Chr7:73923231..76189514 [NCBI36] Chr7:7q11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:72938064-74779028)x3	copy number gain	See cases [RCV000136287]	Chr7:72938064..74779028 [GRCh38] Chr7:72408602..74193374 [GRCh37] Chr7:72046538..73831310 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74924007)x1	copy number loss	See cases [RCV000136391]	Chr7:73280574..74924007 [GRCh38] Chr7:72636006..74339014 [GRCh37] Chr7:72273942..73976950 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x3	copy number gain	See cases [RCV000136042]	Chr7:73352303..74719008 [GRCh38] Chr7:72766312..74133327 [GRCh37] Chr7:72404248..73771263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74719008)x1	copy number loss	See cases [RCV000136046]	Chr7:73352303..74719008 [GRCh38] Chr7:72766312..74133327 [GRCh37] Chr7:72404248..73771263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74924023)x1	copy number loss	See cases [RCV000136076]	Chr7:73352303..74924023 [GRCh38] Chr7:72766312..74339030 [GRCh37] Chr7:72404248..73976966 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352303-74779051)x1	copy number loss	See cases [RCV000136014]	Chr7:73352303..74779051 [GRCh38] Chr7:72766312..74193397 [GRCh37] Chr7:72404248..73831333 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73312582-74725057)x1	copy number loss	See cases [RCV000136793]	Chr7:73312582..74725057 [GRCh38] Chr7:72726578..74139390 [GRCh37] Chr7:72364514..73777326 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x3	copy number gain	See cases [RCV000138102]	Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74779057)x1	copy number loss	See cases [RCV000138103]	Chr7:73192369..74779057 [GRCh38] Chr7:72606409..74193403 [GRCh37] Chr7:72244345..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-73556222)x1	copy number loss	See cases [RCV000137730]	Chr7:73286412..73556222 [GRCh38] Chr7:72338350..72608488 [NCBI36] Chr7:7q11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:73040501-75255046)x3	copy number gain	See cases [RCV000137731]	Chr7:73040501..75255046 [GRCh38] Chr7:72635638..74904285 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74727989)x1	copy number loss	See cases [RCV000138355]	Chr7:73286412..74727989 [GRCh38] Chr7:72700414..74142327 [GRCh37] Chr7:72338350..73780263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727989)x3	copy number gain	See cases [RCV000138356]	Chr7:73280574..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23	pathogenic\|conflicting data from submitters
GRCh38/hg38 7q11.23(chr7:73271690-74727989)x1	copy number loss	See cases [RCV000138357]	Chr7:73271690..74727989 [GRCh38] Chr7:72685734..74142327 [GRCh37] Chr7:72323670..73780263 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74869255)x1	copy number loss	See cases [RCV000139190]	Chr7:73192369..74869255 [GRCh38] Chr7:72606409..74285345 [GRCh37] Chr7:72244345..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74779057)x3	copy number gain	See cases [RCV000139121]	Chr7:73280574..74779057 [GRCh38] Chr7:72663962..74193403 [GRCh37] Chr7:72301898..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74869255)x1	copy number loss	See cases [RCV000139797]	Chr7:73286412..74869255 [GRCh38] Chr7:72700414..74285345 [GRCh37] Chr7:72338350..73923281 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74779057)x1	copy number loss	See cases [RCV000140662]	Chr7:73286412..74779057 [GRCh38] Chr7:72700414..74193403 [GRCh37] Chr7:72338350..73831339 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73192369-74883978)x3	copy number gain	See cases [RCV000140718]	Chr7:73192369..74883978 [GRCh38] Chr7:72606409..74300084 [GRCh37] Chr7:72244345..73938020 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73175475-74740268)x3	copy number gain	See cases [RCV000141703]	Chr7:73175475..74740268 [GRCh38] Chr7:72589515..74154603 [GRCh37] Chr7:72227451..73792539 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286125-74732517)x3	copy number gain	See cases [RCV000142341]	Chr7:73286125..74732517 [GRCh38] Chr7:72700127..74146858 [GRCh37] Chr7:72338063..73784794 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74789341)x1	copy number loss	See cases [RCV000142414]	Chr7:73280574..74789341 [GRCh38] Chr7:72637824..74203685 [GRCh37] Chr7:72275760..73841621 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	copy number gain	See cases [RCV000142242]	Chr7:62977085..75415352 [GRCh38] Chr7:62437463..75044630 [GRCh37] Chr7:62074898..74882566 [NCBI36] Chr7:7q11.21-11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286508-74727852)x1	copy number loss	See cases [RCV000142230]	Chr7:73286508..74727852 [GRCh38] Chr7:72700510..74142190 [GRCh37] Chr7:72338446..73780126 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74727918)x1	copy number loss	See cases [RCV000142156]	Chr7:73280574..74727918 [GRCh38] Chr7:72650120..74142256 [GRCh37] Chr7:72288056..73780192 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286522-74727156)x1	copy number loss	See cases [RCV000142159]	Chr7:73286522..74727156 [GRCh38] Chr7:72700524..74141494 [GRCh37] Chr7:72338460..73779430 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73286412-74758583)x1	copy number loss	See cases [RCV000142891]	Chr7:73286412..74758583 [GRCh38] Chr7:72700414..74172913 [GRCh37] Chr7:72338350..73810849 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-75065728)x3	copy number gain	See cases [RCV000142690]	Chr7:73352304..75065728 [GRCh38] Chr7:72766313..74481540 [GRCh37] Chr7:72404249..74119476 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	copy number loss	See cases [RCV000142528]	Chr7:62736364..75432710 [GRCh38] Chr7:62196742..75061986 [GRCh37] Chr7:61834177..74899922 [NCBI36] Chr7:7q11.21-11.23	pathogenic
GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	copy number gain	See cases [RCV000143454]	Chr7:72179092..79164071 [GRCh38] Chr7:71644077..78793387 [GRCh37] Chr7:71282013..78631323 [NCBI36] Chr7:7q11.22-21.11	likely pathogenic
GRCh38/hg38 7q11.23(chr7:73280574-74728722)x3	copy number gain	See cases [RCV000143390]	Chr7:73280574..74728722 [GRCh38] Chr7:72677301..74143060 [GRCh37] Chr7:72315237..73780996 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.22-11.23(chr7:71478043-73444574)x1	copy number loss	See cases [RCV000143344]	Chr7:71478043..73444574 [GRCh38] Chr7:70943028..72806397 [GRCh37] Chr7:70580964..72496840 [NCBI36] Chr7:7q11.22-11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	copy number gain	See cases [RCV000148080]	Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74924037)x1	copy number loss	See cases [RCV000148081]	Chr7:73352304..74924037 [GRCh38] Chr7:72766313..74339044 [GRCh37] Chr7:72404249..73976980 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73304280-74727852)x1	copy number loss	See cases [RCV000143632]	Chr7:73304280..74727852 [GRCh38] Chr7:72718277..74142190 [GRCh37] Chr7:72356213..73780126 [NCBI36] Chr7:7q11.23	pathogenic
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1	copy number loss	See cases [RCV000148142]	Chr7:73352304..74719013 [GRCh38] Chr7:72766313..74133332 [GRCh37] Chr7:72404249..73771268 [NCBI36] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718252-74133332)x1	copy number loss	See cases [RCV000239835]	Chr7:72718252..74133332 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74339044)x1	copy number loss	See cases [RCV000239823]	Chr7:72708237..74339044 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74217390)x1	copy number loss	See cases [RCV000258813]	Chr7:72722981..74217390 [GRCh37] Chr7:7q11.23	pathogenic\|likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x1	copy number loss	See cases [RCV000207450]	Chr7:72722981..74141840 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	duplication	Autism spectrum disorder [RCV000225382]	Chr7:72718278..74140708 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	duplication	Intestinal malrotation [RCV000754986]	Chr7:72634873..74142327 [GRCh37] Chr7:7q11.23	likely pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71968212-74133332)x3	copy number gain	See cases [RCV000240527]	Chr7:71968212..74133332 [GRCh37] Chr7:7q11.22-11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72717369-74142224)x1	copy number loss	not provided [RCV001270666]	Chr7:72717369..74142224 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	deletion	not provided [RCV000768460]	Chr7:72682338..74141250 [GRCh37] Chr7:7q11.23	likely pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74142256)x1	copy number loss	See cases [RCV000449356]	Chr7:72713253..74142256 [GRCh37] Chr7:7q11.23	pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141673)x1	copy number loss	See cases [RCV000449372]	Chr7:72718277..74141673 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74143240)x3	copy number gain	See cases [RCV000446793]	Chr7:72700127..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72713253-74143030)x1	copy number loss	See cases [RCV000447530]	Chr7:72713253..74143030 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	copy number loss	See cases [RCV000447273]	Chr7:72718277..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72708237-74133273)x1	copy number loss	See cases [RCV000446832]	Chr7:72708237..74133273 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-74142190)x3	copy number gain	See cases [RCV000446236]	Chr7:72686958..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1	copy number loss	See cases [RCV000447620]	Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146948)x1	copy number loss	See cases [RCV000446172]	Chr7:72718277..74146948 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142215)x1	copy number loss	See cases [RCV000447454]	Chr7:72718277..74142215 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74141746)x3	copy number gain	See cases [RCV000445755]	Chr7:72692112..74141746 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142190)x1	copy number loss	See cases [RCV000447774]	Chr7:72700524..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141784)x1	copy number loss	See cases [RCV000448046]	Chr7:72718277..74141784 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141746)x1	copy number loss	See cases [RCV000448666]	Chr7:72718123..74141746 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72472922-74259176)x3	copy number gain	See cases [RCV000448344]	Chr7:72472922..74259176 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700524-74142256)x3	copy number gain	See cases [RCV000512105]	Chr7:72700524..74142256 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-73198616)x1	copy number loss	See cases [RCV000515566]	Chr7:72722981..73198616 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72643631-74142190)x1	copy number loss	See cases [RCV000512130]	Chr7:72643631..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72677301-74143240)x3	copy number gain	See cases [RCV000512048]	Chr7:72677301..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74287433)x1	copy number loss	See cases [RCV000510195]	Chr7:72718277..74287433 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74259899)x1	copy number loss	See cases [RCV000510198]	Chr7:72718277..74259899 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74141493)x1	copy number loss	See cases [RCV000510144]	Chr7:72701018..74141493 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72691242-74142190)x1	copy number loss	See cases [RCV000510243]	Chr7:72691242..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-73898515)x1	copy number loss	See cases [RCV000511510]	Chr7:72718277..73898515 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74146858)x1	copy number loss	See cases [RCV000511528]	Chr7:72718277..74146858 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72692112-74154497)x3	copy number gain	See cases [RCV000511487]	Chr7:72692112..74154497 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141494)x1	copy number loss	See cases [RCV000511955]	Chr7:72718277..74141494 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72677173-74143140)x3	copy number gain	See cases [RCV000510884]	Chr7:72677173..74143140 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74141603)x1	copy number loss	See cases [RCV000511254]	Chr7:72718277..74141603 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74165401)x3	copy number gain	See cases [RCV000510938]	Chr7:72589515..74165401 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72456604-76007380)x1	copy number loss	See cases [RCV000510782]	Chr7:72456604..76007380 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.43G>A (p.Asp15Asn)	single nucleotide variant	Inborn genetic diseases [RCV003297977]	Chr7:73328471 [GRCh38] Chr7:72742474 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72766313-74133332)	copy number loss	Global developmental delay [RCV000626537]	Chr7:72766313..74133332 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72772522-74133319)	copy number loss	Short stature [RCV000626538]	Chr7:72772522..74133319 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.353A>G (p.Tyr118Cys)	single nucleotide variant	Inborn genetic diseases [RCV003284889]	Chr7:73330237 [GRCh38] Chr7:72744240 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72718277-74141746)x1	copy number loss	See cases [RCV000512220]	Chr7:72718277..74141746 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72536980-74629034)x1	copy number loss	See cases [RCV000512310]	Chr7:72536980..74629034 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74197846)x3	copy number gain	See cases [RCV000512328]	Chr7:72577021..74197846 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74143240)x3	copy number gain	See cases [RCV000512332]	Chr7:72659674..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72686958-73113924)x3	copy number gain	not provided [RCV000682843]	Chr7:72686958..73113924 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72700524-74069858)x3	copy number gain	not provided [RCV000682883]	Chr7:72700524..74069858 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72701018-74143240)x3	copy number gain	not provided [RCV000682886]	Chr7:72701018..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3	copy number gain	not provided [RCV000682888]	Chr7:72576872..74175429 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784)x1	copy number loss	not provided [RCV000682885]	Chr7:72718123..74141784 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72612042-74574641)x1	copy number loss	not provided [RCV000682895]	Chr7:72612042..74574641 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72608514-74386749)x1	copy number loss	not provided [RCV000682892]	Chr7:72608514..74386749 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74859638)x3	copy number gain	not provided [RCV000682898]	Chr7:72577021..74859638 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72577021-74147166)x3	copy number gain	not provided [RCV000682887]	Chr7:72577021..74147166 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74386749)x1	copy number loss	not provided [RCV000682894]	Chr7:72589515..74386749 [GRCh37] Chr7:7q11.23	pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Childhood apraxia of speech [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
GRCh37/hg19 7q11.23(chr7:72719386-74218536)x1	copy number loss	not provided [RCV000746793]	Chr7:72719386..74218536 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72305671-74196360)x1	copy number loss	not provided [RCV000746789]	Chr7:72305671..74196360 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72650106-74138603)x1	copy number loss	not provided [RCV000746790]	Chr7:72650106..74138603 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72653306-74134911)x1	copy number loss	not provided [RCV000746792]	Chr7:72653306..74134911 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	duplication	Schizophrenia [RCV000754333]	Chr7:73312644..74726596 [GRCh38] Chr7:7q11.23	pathogenic
Single allele	duplication	Autism [RCV000754334]	Chr7:73323103..74726596 [GRCh38] Chr7:7q11.23	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.23(chr7:72743983-74145064)x3	copy number gain	not provided [RCV000746795]	Chr7:72743983..74145064 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72650265-74138603)x1	copy number loss	not provided [RCV000746791]	Chr7:72650265..74138603 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72722981-74200092)x1	copy number loss	not provided [RCV000746794]	Chr7:72722981..74200092 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72621722-76007380)x1	copy number loss	not provided [RCV001005967]	Chr7:72621722..76007380 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72721449-73959106)	copy number loss	Williams syndrome [RCV000767559]	Chr7:72721449..73959106 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-76038818)	copy number loss	Williams syndrome [RCV000767638]	Chr7:72744494..76038818 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787466]	Chr7:72726590..74142329 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72744494-74339044)	copy number loss	Williams syndrome [RCV000767637]	Chr7:72744494..74339044 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142190)	copy number loss	Williams syndrome [RCV000767639]	Chr7:72700996..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72772522-74133319)	copy number loss	Williams syndrome [RCV000767640]	Chr7:72772522..74133319 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.101G>A (p.Gly34Glu)	single nucleotide variant	not provided [RCV000790936]	Chr7:73328618 [GRCh38] Chr7:72742621 [GRCh37] Chr7:7q11.23	uncertain significance
Single allele	duplication	Neurodevelopmental disorder [RCV000787457]	Chr7:72364526..73780265 [GRCh37] Chr7:7q11.23	likely pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787465]	Chr7:72699382..74142329 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700510-72874856)x3	copy number gain	not provided [RCV000847348]	Chr7:72700510..72874856 [GRCh37] Chr7:7q11.23	uncertain significance
Single allele	deletion	Williams syndrome [RCV001172267]	Chr7:72657228..74160300 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72654782-74142190)x1	copy number loss	not provided [RCV002472631]	Chr7:72654782..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-72822709)x3	copy number gain	not provided [RCV002473807]	Chr7:72718278..72822709 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72722981-74141840)x3	copy number gain	See cases [RCV001194543]	Chr7:72722981..74141840 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	copy number loss	not provided [RCV001258798]	Chr7:72403117..76709600 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:68977230-73939510)x1	copy number loss	not provided [RCV001260005]	Chr7:68977230..73939510 [GRCh37] Chr7:7q11.22-11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700996-74142256)	copy number loss	Williams syndrome [RCV002280681]	Chr7:72700996..74142256 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72700127-74142190)	copy number loss	Williams syndrome [RCV002280684]	Chr7:72700127..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72659674-74164894)x3	copy number gain	not provided [RCV001258797]	Chr7:72659674..74164894 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q11.22-11.23(chr7:71847968-73391310)	copy number loss	Williams syndrome [RCV001352633]	Chr7:71847968..73391310 [GRCh37] Chr7:7q11.22-11.23	likely pathogenic
GRCh37/hg19 7q11.23(chr7:72664461-74162586)	copy number gain	7q11.23 microduplication syndrome [RCV003319591]	Chr7:72664461..74162586 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	copy number loss	See cases [RCV002285079]	Chr7:72718277..74142190 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.865A>C (p.Ile289Leu)	single nucleotide variant	Inborn genetic diseases [RCV003295442]	Chr7:73341354 [GRCh38] Chr7:72755353 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72700942-74142190)	copy number loss	Williams syndrome [RCV002280682]	Chr7:72700942..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589195-74225562)	copy number loss	Williams syndrome [RCV002280675]	Chr7:72589195..74225562 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74141784)	copy number loss	Williams syndrome [RCV002280679]	Chr7:72718123..74141784 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72717345-74133310)x3	copy number gain	Distal 7q11.23 microdeletion syndrome [RCV001801209]	Chr7:72717345..74133310 [GRCh37] Chr7:7q11.23	pathogenic
NC_000007.14:g.73304277_74727414del	deletion	Williams syndrome [RCV003318489]	Chr7:73304277..74727414 [GRCh38] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72701084-74142190)	copy number loss	Williams syndrome [RCV002280683]	Chr7:72701084..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72645013-74142190)	copy number loss	Williams syndrome [RCV002280678]	Chr7:72645013..74142190 [GRCh37] Chr7:7q11.23	pathogenic
Single allele	deletion	Williams syndrome [RCV003234736]	Chr7:73214501..74773500 [GRCh38] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72717395-74173168)	copy number loss	Williams syndrome [RCV003236746]	Chr7:72717395..74173168 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718123-74142190)	copy number loss	Williams syndrome [RCV002280674]	Chr7:72718123..74142190 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72589515-74629034)	copy number loss	Williams syndrome [RCV002280676]	Chr7:72589515..74629034 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72766313-74042787)x3	copy number gain	7q11.23 microduplication syndrome [RCV002279739]	Chr7:72766313..74042787 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)	single nucleotide variant	Male infertility [RCV002307841]\|Spermatogenic failure 77 [RCV002294518]	Chr7:73340659 [GRCh38] Chr7:7q11.23	pathogenic\|likely pathogenic
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)	duplication	Male infertility [RCV002307843]\|Spermatogenic failure 77 [RCV002294520]	Chr7:73331695..73331696 [GRCh38] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)	single nucleotide variant	Male infertility [RCV002307844]\|Spermatogenic failure 77 [RCV002294521]	Chr7:73341321 [GRCh38] Chr7:7q11.23	pathogenic\|likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
GRCh37/hg19 7q11.23(chr7:72686958-74155067)	copy number gain	7q11.23 microduplication syndrome [RCV002280765]	Chr7:72686958..74155067 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.469-2A>T	single nucleotide variant	Male infertility [RCV002307845]\|Spermatogenic failure 77 [RCV002294522]	Chr7:73331655 [GRCh38] Chr7:72745658 [GRCh37] Chr7:7q11.23	pathogenic\|likely pathogenic
NM_003602.5(FKBP6):c.589-2A>G	single nucleotide variant	Male infertility [RCV002307842]\|Spermatogenic failure 77 [RCV002294519]	Chr7:73340636 [GRCh38] Chr7:72754638 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74143060)x1	copy number loss	not provided [RCV002474679]	Chr7:72718278..74143060 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74143240)x1	copy number loss	not provided [RCV002473955]	Chr7:72718278..74143240 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72718278-74142256)x1	copy number loss	not provided [RCV002472548]	Chr7:72718278..74142256 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72643632-74143060)x1	copy number loss	not provided [RCV002472618]	Chr7:72643632..74143060 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.523C>T (p.Arg175Trp)	single nucleotide variant	Inborn genetic diseases [RCV002754702]	Chr7:73331711 [GRCh38] Chr7:72745714 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.392C>G (p.Thr131Ser)	single nucleotide variant	Inborn genetic diseases [RCV002906593]	Chr7:73330276 [GRCh38] Chr7:72744279 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.557G>A (p.Arg186His)	single nucleotide variant	Inborn genetic diseases [RCV002981616]	Chr7:73331745 [GRCh38] Chr7:72745748 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.932G>C (p.Trp311Ser)	single nucleotide variant	Inborn genetic diseases [RCV002662172]	Chr7:73342845 [GRCh38] Chr7:72756845 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.636C>A (p.His212Gln)	single nucleotide variant	Inborn genetic diseases [RCV003000487]	Chr7:73340685 [GRCh38] Chr7:72754687 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.488C>T (p.Pro163Leu)	single nucleotide variant	Inborn genetic diseases [RCV002980767]	Chr7:73331676 [GRCh38] Chr7:72745679 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.275T>A (p.Leu92Gln)	single nucleotide variant	Inborn genetic diseases [RCV002892661]	Chr7:73330159 [GRCh38] Chr7:72744162 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.508G>A (p.Val170Met)	single nucleotide variant	Inborn genetic diseases [RCV002812553]	Chr7:73331696 [GRCh38] Chr7:72745699 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh38/hg38 7q11.23(chr7:73229597-74727852)	copy number loss	Williams syndrome [RCV003223593]	Chr7:73229597..74727852 [GRCh38] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.20A>C (p.Asn7Thr)	single nucleotide variant	Inborn genetic diseases [RCV003309458]	Chr7:73328448 [GRCh38] Chr7:72742451 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.674T>G (p.Leu225Arg)	single nucleotide variant	Inborn genetic diseases [RCV003304536]	Chr7:73340723 [GRCh38] Chr7:72754725 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72718277-74142256)	copy number gain	7q11.23 microduplication syndrome [RCV003320440]	Chr7:72718277..74142256 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.458C>T (p.Ala153Val)	single nucleotide variant	Inborn genetic diseases [RCV003371693]	Chr7:73330342 [GRCh38] Chr7:72744345 [GRCh37] Chr7:7q11.23	uncertain significance
GRCh37/hg19 7q11.23(chr7:72547476-74263704)x3	copy number gain	not provided [RCV003484684]	Chr7:72547476..74263704 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.547C>T (p.Arg183Cys)	single nucleotide variant	not provided [RCV003423607]	Chr7:73331735 [GRCh38] Chr7:72745738 [GRCh37] Chr7:7q11.23	likely benign
GRCh37/hg19 7q11.23(chr7:72718278-72818671)x1	copy number loss	not provided [RCV003482964]	Chr7:72718278..72818671 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.384C>T (p.Pro128=)	single nucleotide variant	not provided [RCV003423606]	Chr7:73330268 [GRCh38] Chr7:72744271 [GRCh37] Chr7:7q11.23	likely benign
NC_000007.14:g.(?_73303398)_(74735532_?)del	deletion	Williams syndrome [RCV004586468]	Chr7:73303398..74735532 [GRCh38] Chr7:7q11.23	likely pathogenic
GRCh37/hg19 7q11.21-11.23(chr7:66776724-74629034)x3	copy number gain	not specified [RCV003986715]	Chr7:66776724..74629034 [GRCh37] Chr7:7q11.21-11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72732819-76003862)x3	copy number gain	not specified [RCV003986700]	Chr7:72732819..76003862 [GRCh37] Chr7:7q11.23	pathogenic
GRCh37/hg19 7q11.23(chr7:72701099-74186150)x3	copy number gain	not provided [RCV004442782]	Chr7:72701099..74186150 [GRCh37] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.605G>A (p.Arg202His)	single nucleotide variant	FKBP6-related disorder [RCV003974098]	Chr7:73340654 [GRCh38] Chr7:72754656 [GRCh37] Chr7:7q11.23	benign
NM_003602.5(FKBP6):c.894-4C>G	single nucleotide variant	FKBP6-related disorder [RCV003936894]	Chr7:73342803 [GRCh38] Chr7:72756803 [GRCh37] Chr7:7q11.23	benign
NM_003602.5(FKBP6):c.588+3GA[3]	microsatellite	FKBP6-related disorder [RCV003964763]	Chr7:73331778..73331779 [GRCh38] Chr7:72745781..72745782 [GRCh37] Chr7:7q11.23	likely benign
GRCh38/hg38 7q11.23(chr7:73247356-74727974)x3	copy number gain	7q11.23 microduplication syndrome [RCV004556973]	Chr7:73247356..74727974 [GRCh38] Chr7:7q11.23	pathogenic
NM_003602.5(FKBP6):c.563A>G (p.Tyr188Cys)	single nucleotide variant	Inborn genetic diseases [RCV004386646]	Chr7:73331751 [GRCh38] Chr7:72745754 [GRCh37] Chr7:7q11.23	likely benign
NM_003602.5(FKBP6):c.327G>C (p.Arg109Ser)	single nucleotide variant	Inborn genetic diseases [RCV004386644]	Chr7:73330211 [GRCh38] Chr7:72744214 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.938G>A (p.Arg313His)	single nucleotide variant	Inborn genetic diseases [RCV004386648]	Chr7:73342851 [GRCh38] Chr7:72756851 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.256C>A (p.Leu86Ile)	single nucleotide variant	Inborn genetic diseases [RCV004623602]	Chr7:73329440 [GRCh38] Chr7:72743443 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.539A>G (p.Tyr180Cys)	single nucleotide variant	Inborn genetic diseases [RCV004975126]	Chr7:73331727 [GRCh38] Chr7:72745730 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.392C>T (p.Thr131Ile)	single nucleotide variant	Inborn genetic diseases [RCV004975128]	Chr7:73330276 [GRCh38] Chr7:72744279 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.917A>C (p.Lys306Thr)	single nucleotide variant	Inborn genetic diseases [RCV004975127]	Chr7:73342830 [GRCh38] Chr7:72756830 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.466G>C (p.Ala156Pro)	single nucleotide variant	Inborn genetic diseases [RCV004975125]	Chr7:73330350 [GRCh38] Chr7:72744353 [GRCh37] Chr7:7q11.23	uncertain significance
NM_003602.5(FKBP6):c.217G>A (p.Asp73Asn)	single nucleotide variant	Inborn genetic diseases [RCV004975124]	Chr7:73329401 [GRCh38] Chr7:72743404 [GRCh37] Chr7:7q11.23	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2021
Count of miRNA genes:	734
Interacting mature miRNAs:	848
Transcripts:	ENST00000252037, ENST00000413573, ENST00000429879, ENST00000431982, ENST00000437013, ENST00000442793, ENST00000445032
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597242425	GWAS1338499_H	triglyceride measurement QTL GWAS1338499 (human)		3e-11	triglyceride measurement	blood triglyceride level (CMO:0000118)	7	73343059	73343060	Human
597497212	GWAS1593286_H	hip geometry QTL GWAS1593286 (human)		8e-09	hip geometry	hip circumference (CMO:0000014)	7	73352808	73352809	Human
406959860	GWAS608836_H	triglyceride measurement QTL GWAS608836 (human)		2e-08	triglyceride measurement	blood triglyceride level (CMO:0000118)	7	73353442	73353443	Human
406909451	GWAS558427_H	response to vaccine, cytokine measurement QTL GWAS558427 (human)		0.0000003	response to vaccine, cytokine measurement	blood cytokine measurement (CMO:0001924)	7	73332645	73332646	Human

GDB:1318639

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	72,756,894 - 72,757,035	UniSTS	GRCh37
Build 36	7	72,394,830 - 72,394,971	RGD	NCBI36
Celera	7	68,235,178 - 68,235,319	RGD
Cytogenetic Map	7	q11.23	UniSTS
HuRef	7	68,638,630 - 68,638,771	UniSTS
CRA_TCAGchr7v2	7	72,089,966 - 72,090,107	UniSTS

Fkbp6

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	72,754,808 - 72,755,366	UniSTS	GRCh37
Build 36	7	72,392,744 - 72,393,302	RGD	NCBI36
Celera	7	68,233,091 - 68,233,651	RGD
HuRef	7	68,636,546 - 68,637,107	UniSTS
CRA_TCAGchr7v2	7	72,087,880 - 72,088,438	UniSTS

FKBP6_2850

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	72,772,152 - 72,772,654	UniSTS	GRCh37
Build 36	7	72,410,088 - 72,410,590	RGD	NCBI36
Celera	7	68,250,426 - 68,250,928	RGD
HuRef	7	68,653,878 - 68,654,380	UniSTS
CRA_TCAGchr7v2	7	72,105,224 - 72,105,726	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1006	1766	1978	1459	4055	1425	1856	2	465	1065	333	1777	4668	4345	16	3127	609	1507	1296	140


RefSeq Transcripts	NG_023242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001135211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001281304	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001362789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003602	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017012742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420984	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420985	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054359264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA909474	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC005049	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC073841	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC211540	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF038847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF447060	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC036817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG704958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI461016	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI461017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB033483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB450796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB525126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC397811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HC006956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000252037 ⟹ ENSP00000252037

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,161 - 73,358,625 (+)	Ensembl

Ensembl Acc Id:

ENST00000413573 ⟹ ENSP00000394952

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,275 - 73,358,637 (+)	Ensembl

Ensembl Acc Id:

ENST00000429879 ⟹ ENSP00000403908

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,333 - 73,341,297 (+)	Ensembl

Ensembl Acc Id:

ENST00000431982 ⟹ ENSP00000416277

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,164 - 73,358,546 (+)	Ensembl

Ensembl Acc Id:

ENST00000437013

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,346 - 73,329,589 (+)	Ensembl

Ensembl Acc Id:

ENST00000442793 ⟹ ENSP00000402360

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,253 - 73,341,382 (+)	Ensembl

Ensembl Acc Id:

ENST00000445032 ⟹ ENSP00000415891

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,312 - 73,358,625 (+)	Ensembl

Ensembl Acc Id:

ENST00000648538 ⟹ ENSP00000497448

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	73,328,253 - 73,353,357 (+)	Ensembl

RefSeq Acc Id:

NM_001135211 ⟹ NP_001128683

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,161 - 73,358,625 (+)	NCBI
GRCh37	7	72,742,155 - 72,772,646 (+)	NCBI
HuRef	7	68,623,892 - 68,654,372 (+)	NCBI
CHM1_1	7	72,888,174 - 72,918,659 (+)	NCBI
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI

Sequence:

show sequence

ATCATGTTTCGTGCGCTCCCATTACGGATCATACCTCGCACCTCACCGCGTGGCCTCTGTAGTTCCAGAGCTCGCGAGGGCCAGGGCCGTTGGCGGCGGTTGGAACGAAACGATGAGTGCCTCCTCGT
GGCCCCAGAATGGAATGCCGCCGTCGTCCCTGTACGAGCGGTTAAGTCAGAGGATGCTGGACATCTCGGGGGACCGGGGCGTGCTGAAGGACGTCATCCGAGAAGGAGCTGGAGACCTAGTGGCGCCT
GATGCTTCGGTGCTAGTGAAATACTCGGGATACCTGGAACACATGGACAGACCCTTCGATTCTAATTACTTTAGGAAAACTCCTCGGCTAATGAAACTTGGAGAGGATATTACACTGTGGGGCATGGA
GCTGGGCCTTCTGAGCATGCGGAGAGGAGAGCTGGCCAGGTTTCTGTTCAAACCGAACTACGCCTATGGAACGCTGGGCTGCCCTCCCTTGATCCCCCCAAACACCACTGTCCTGTTTGAGATTGAGC
TGCTTGACTTCCTGGACTGTGCTGAGTCAGACAAGTTTTGTGCTCTCTCAGCTGAGCAGCAAGACCAATTTCCACTTCAGAAGGTCCTGAAAGTGGCAGCTACGGAACGGGAGTTTGGCAACTACCTT
TTCCGCCAGAATCGTTTCTATGATGCCAAAGTGAGATATAAAAGGGCCCTATTGCTTCTGCGCCGGCGATCAGCACCCCCTGAAGAGCAGCACCTGGTGGAGGCCGCCAAGCTTCCTGTTCTCCTGAA
CCTGTCCTTTACATACCTGAAGCTAGACCGACCCACCATAGCCCTGTGCTATGGAGAGCAGGCTTTGATCATTGACCAAAAGAATGCCAAGGCCCTCTTCAGGTGTGGACAGGCTTGTCTTCTCCTGA
CTGAGTATCAAAAGGCCCGGGATTTTCTAGTTCGAGCCCAGAAGGAGCAACCCTTCAATCATGACATCAATAATGAGCTGAAGAAACTGGCTAGCTGTTACAGGGACTATGTGGATAAAGAGAAAGAA
ATGTGGCACCGCATGTTCGCGCCCTGTGGCGATGGTTCTACAGCAGGAGAAAGTTGAAGGTTCTTCACCTACCAACGAGGGGAGAGAGCTGTGGTTCTCCATCATTGGGGGAGTGGAAGGGAGCTCCC
AGCGCAGCCGTGGCAGCCACCTTCCAGGAGCAGGGGCTGGAATGTCCTGTGGCCGCATCTCTCATGGACGCGGCTGAAACGTGTTTTCACAGGTGCTGTTTTCTGTTTTCCGTGTTCGTAACAGAAGG
GAGGGGAAAGCGCAGCTACTGACAAGTAGAACACTGCTACTTTTTTTAAGGCAGTTTCTTGTTTTTTTAGACGGAATTAGTCCTTGGCTTCCCTCCCAGTCCCAGCCCTGCTTCCGGCTGCGAATGTC
CCTGAGTCAACACCAATAGAGATTGCTTTGTGTATTTTGTAGGGTTCTCTGTTTTGAAGACAGAATTATGTTACAAATGTTTTTGTTGTAAATAAATAAAACACTTCCTTGTCCTTGCAA

hide sequence

RefSeq Acc Id:

NM_001281304 ⟹ NP_001268233

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,161 - 73,358,625 (+)	NCBI
GRCh37	7	72,742,155 - 72,772,646 (+)	NCBI
HuRef	7	68,623,892 - 68,654,372 (+)	NCBI
CHM1_1	7	72,888,254 - 72,918,659 (+)	NCBI
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI
CRA_TCAGchr7v2	7	72,075,227 - 72,105,718 (+)	NCBI

Sequence:

show sequence

ATCATGTTTCGTGCGCTCCCATTACGGATCATACCTCGCACCTCACCGCGTGGCCTCTGTAGTTCCAGAGCTCGCGAGGGCCAGGGCCGTTGGCGGCGGTTGGAACGAAACGATGAGTGCCTCCTCGT
GGCCCCAGAATGGAATGCCGCCGTCGGTAGGGGTCTGCCGGGCATAAAGGGGCCTTCGGAACCCCACCAGAGTCACAGCCAGGGAGGGCAGCGGGGCGCACCAGGCCGAAGGCTCACGCCACAGGGAG
GGCAGCTAGGACATGGGGGGAAGCGCGTTAAACCAGGGAGTCCTGGAAGGGGACGACGCCCCCGGCCAGTCCCTGTACGAGCGGTTAAGTCAGAGGATGCTGGACATCTCGGGGGACCGGGGCGTGCT
GAAGGACGTCATCCGAGAAGGAGCTGGAGACCTAGTGGCGCCTGATGCTTCGGTGCTAGATATTACACTGTGGGGCATGGAGCTGGGCCTTCTGAGCATGCGGAGAGGAGAGCTGGCCAGGTTTCTGT
TCAAACCGAACTACGCCTATGGAACGCTGGGCTGCCCTCCCTTGATCCCCCCAAACACCACTGTCCTGTTTGAGATTGAGCTGCTTGACTTCCTGGACTGTGCTGAGTCAGACAAGTTTTGTGCTCTC
TCAGCTGAGCAGCAAGACCAATTTCCACTTCAGAAGGTCCTGAAAGTGGCAGCTACGGAACGGGAGTTTGGCAACTACCTTTTCCGCCAGAATCGTTTCTATGATGCCAAAGTGAGATATAAAAGGGC
CCTATTGCTTCTGCGCCGGCGATCAGCACCCCCTGAAGAGCAGCACCTGGTGGAGGCCGCCAAGCTTCCTGTTCTCCTGAACCTGTCCTTTACATACCTGAAGCTAGACCGACCCACCATAGCCCTGT
GCTATGGAGAGCAGGCTTTGATCATTGACCAAAAGAATGCCAAGGCCCTCTTCAGGTGTGGACAGGCTTGTCTTCTCCTGACTGAGTATCAAAAGGCCCGGGATTTTCTAGTTCGAGCCCAGAAGGAG
CAACCCTTCAATCATGACATCAATAATGAGCTGAAGAAACTGGCTAGCTGTTACAGGGACTATGTGGATAAAGAGAAAGAAATGTGGCACCGCATGTTCGCGCCCTGTGGCGATGGTTCTACAGCAGG
AGAAAGTTGAAGGTTCTTCACCTACCAACGAGGGGAGAGAGCTGTGGTTCTCCATCATTGGGGGAGTGGAAGGGAGCTCCCAGCGCAGCCGTGGCAGCCACCTTCCAGGAGCAGGGGCTGGAATGTCC
TGTGGCCGCATCTCTCATGGACGCGGCTGAAACGTGTTTTCACAGGTGCTGTTTTCTGTTTTCCGTGTTCGTAACAGAAGGGAGGGGAAAGCGCAGCTACTGACAAGTAGAACACTGCTACTTTTTTT
AAGGCAGTTTCTTGTTTTTTTAGACGGAATTAGTCCTTGGCTTCCCTCCCAGTCCCAGCCCTGCTTCCGGCTGCGAATGTCCCTGAGTCAACACCAATAGAGATTGCTTTGTGTATTTTGTAGGGTTC
TCTGTTTTGAAGACAGAATTATGTTACAAATGTTTTTGTTGTAAATAAATAAAACACTTCCTTGTCCTTGCAA

hide sequence

RefSeq Acc Id:

NM_001362789 ⟹ NP_001349718

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,161 - 73,358,625 (+)	NCBI
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI

Sequence:

show sequence

ATCATGTTTCGTGCGCTCCCATTACGGATCATACCTCGCACCTCACCGCGTGGCCTCTGTAGTTCCAGAGCTCGCGAGGGCCAGGGCCGTTGGCGGCGGTTGGAACGAAACGATGAGTGCCTCCTCGT
GGCCCCAGAATGGAATGCCGCCGTCGTCCCTGTACGAGCGGTTAAGTCAGAGGATGCTGGACATCTCGGGGGACCGGGGCGTGCTGAAGGACGTCATCCGAGAAGGAGCTGGAGACCTAGTGGCGCCT
GATGCTTCGGTGCTAGTGAAATACTCGGGATACCTGGAACACATGGACAGACCCTTCGATTCTAATTACTTTAGGAAAACTCCTCGGCTAATGAAACTTGGAGAGGATATTACACTGTGGGGCATGGA
GCTGGGCCTTCTGAGCATGCGGAGAGGAGAGCTGGCCAGGTTTCTGTTCAAACCGAACTACGCCTATGGAACGCTGGGCTGCCCTCCCTTGATCCCCCCAAACACCACTGTCCTGTTTGAGATTGAGC
TGCTTGACTTCCTGGACTGTGCTGAGTCAGACAAGTTTTGTGCTCTCTCAGCTGCCCTATTGCTTCTGCGCCGGCGATCAGCACCCCCTGAAGAGCAGCACCTGGTGGAGGCCGCCAAGCTTCCTGTT
CTCCTGAACCTGTCCTTTACATACCTGAAGCTAGACCGACCCACCATAGCCCTGTGCTATGGAGAGCAGGCTTTGATCATTGACCAAAAGAATGCCAAGGCCCTCTTCAGGTGTGGACAGGCTTGTCT
TCTCCTGACTGAGTATCAAAAGGCCCGGGATTTTCTAGTTCGAGCCCAGAAGGAGCAACCCTTCAATCATGACATCAATAATGAGCTGAAGAAACTGGCTAGCTGTTACAGGGACTATGTGGATAAAG
AGAAAGAAATGTGGCACCGCATGTTCGCGCCCTGTGGCGATGGTTCTACAGCAGGAGAAAGTTGAAGGTTCTTCACCTACCAACGAGGGGAGAGAGCTGTGGTTCTCCATCATTGGGGGAGTGGAAGG
GAGCTCCCAGCGCAGCCGTGGCAGCCACCTTCCAGGAGCAGGGGCTGGAATGTCCTGTGGCCGCATCTCTCATGGACGCGGCTGAAACGTGTTTTCACAGGTGCTGTTTTCTGTTTTCCGTGTTCGTA
ACAGAAGGGAGGGGAAAGCGCAGCTACTGACAAGTAGAACACTGCTACTTTTTTTAAGGCAGTTTCTTGTTTTTTTAGACGGAATTAGTCCTTGGCTTCCCTCCCAGTCCCAGCCCTGCTTCCGGCTG
CGAATGTCCCTGAGTCAACACCAATAGAGATTGCTTTGTGTATTTTGTAGGGTTCTCTGTTTTGAAGACAGAATTATGTTACAAATGTTTTTGTTGTAAATAAATAAAACACTTCCTTGTCCTTGCAA

hide sequence

RefSeq Acc Id:

NM_003602 ⟹ NP_003593

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,161 - 73,358,625 (+)	NCBI
GRCh37	7	72,742,155 - 72,772,646 (+)	NCBI
Build 36	7	72,380,236 - 72,410,577 (+)	NCBI Archive
HuRef	7	68,623,892 - 68,654,372 (+)	NCBI
CHM1_1	7	72,888,254 - 72,918,659 (+)	NCBI
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI
CRA_TCAGchr7v2	7	72,075,227 - 72,105,718 (+)	NCBI

Sequence:

show sequence

ATCATGTTTCGTGCGCTCCCATTACGGATCATACCTCGCACCTCACCGCGTGGCCTCTGTAGTTCCAGAGCTCGCGAGGGCCAGGGCCGTTGGCGGCGGTTGGAACGAAACGATGAGTGCCTCCTCGT
GGCCCCAGAATGGAATGCCGCCGTCGGTAGGGGTCTGCCGGGCATAAAGGGGCCTTCGGAACCCCACCAGAGTCACAGCCAGGGAGGGCAGCGGGGCGCACCAGGCCGAAGGCTCACGCCACAGGGAG
GGCAGCTAGGACATGGGGGGAAGCGCGTTAAACCAGGGAGTCCTGGAAGGGGACGACGCCCCCGGCCAGTCCCTGTACGAGCGGTTAAGTCAGAGGATGCTGGACATCTCGGGGGACCGGGGCGTGCT
GAAGGACGTCATCCGAGAAGGAGCTGGAGACCTAGTGGCGCCTGATGCTTCGGTGCTAGTGAAATACTCGGGATACCTGGAACACATGGACAGACCCTTCGATTCTAATTACTTTAGGAAAACTCCTC
GGCTAATGAAACTTGGAGAGGATATTACACTGTGGGGCATGGAGCTGGGCCTTCTGAGCATGCGGAGAGGAGAGCTGGCCAGGTTTCTGTTCAAACCGAACTACGCCTATGGAACGCTGGGCTGCCCT
CCCTTGATCCCCCCAAACACCACTGTCCTGTTTGAGATTGAGCTGCTTGACTTCCTGGACTGTGCTGAGTCAGACAAGTTTTGTGCTCTCTCAGCTGAGCAGCAAGACCAATTTCCACTTCAGAAGGT
CCTGAAAGTGGCAGCTACGGAACGGGAGTTTGGCAACTACCTTTTCCGCCAGAATCGTTTCTATGATGCCAAAGTGAGATATAAAAGGGCCCTATTGCTTCTGCGCCGGCGATCAGCACCCCCTGAAG
AGCAGCACCTGGTGGAGGCCGCCAAGCTTCCTGTTCTCCTGAACCTGTCCTTTACATACCTGAAGCTAGACCGACCCACCATAGCCCTGTGCTATGGAGAGCAGGCTTTGATCATTGACCAAAAGAAT
GCCAAGGCCCTCTTCAGGTGTGGACAGGCTTGTCTTCTCCTGACTGAGTATCAAAAGGCCCGGGATTTTCTAGTTCGAGCCCAGAAGGAGCAACCCTTCAATCATGACATCAATAATGAGCTGAAGAA
ACTGGCTAGCTGTTACAGGGACTATGTGGATAAAGAGAAAGAAATGTGGCACCGCATGTTCGCGCCCTGTGGCGATGGTTCTACAGCAGGAGAAAGTTGAAGGTTCTTCACCTACCAACGAGGGGAGA
GAGCTGTGGTTCTCCATCATTGGGGGAGTGGAAGGGAGCTCCCAGCGCAGCCGTGGCAGCCACCTTCCAGGAGCAGGGGCTGGAATGTCCTGTGGCCGCATCTCTCATGGACGCGGCTGAAACGTGTT
TTCACAGGTGCTGTTTTCTGTTTTCCGTGTTCGTAACAGAAGGGAGGGGAAAGCGCAGCTACTGACAAGTAGAACACTGCTACTTTTTTTAAGGCAGTTTCTTGTTTTTTTAGACGGAATTAGTCCTT
GGCTTCCCTCCCAGTCCCAGCCCTGCTTCCGGCTGCGAATGTCCCTGAGTCAACACCAATAGAGATTGCTTTGTGTATTTTGTAGGGTTCTCTGTTTTGAAGACAGAATTATGTTACAAATGTTTTTG
TTGTAAATAAATAAAACACTTCCTTGTCCTTGCAA

hide sequence

RefSeq Acc Id:

XM_047420984 ⟹ XP_047276940

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,161 - 73,358,625 (+)	NCBI

RefSeq Acc Id:

XM_047420985 ⟹ XP_047276941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,161 - 73,358,625 (+)	NCBI

RefSeq Acc Id:

XM_047420986 ⟹ XP_047276942

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,161 - 73,341,376 (+)	NCBI

RefSeq Acc Id:

XM_054359262 ⟹ XP_054215237

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI

RefSeq Acc Id:

XM_054359263 ⟹ XP_054215238

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	74,528,332 - 74,558,802 (+)	NCBI

RefSeq Acc Id:

XM_054359264 ⟹ XP_054215239

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	74,528,332 - 74,541,543 (+)	NCBI


Protein RefSeqs	NP_001128683	(Get FASTA)	NCBI Sequence Viewer
	NP_001268233	(Get FASTA)	NCBI Sequence Viewer
	NP_001349718	(Get FASTA)	NCBI Sequence Viewer
	NP_003593	(Get FASTA)	NCBI Sequence Viewer
	XP_047276940	(Get FASTA)	NCBI Sequence Viewer
	XP_047276941	(Get FASTA)	NCBI Sequence Viewer
	XP_047276942	(Get FASTA)	NCBI Sequence Viewer
	XP_054215237	(Get FASTA)	NCBI Sequence Viewer
	XP_054215238	(Get FASTA)	NCBI Sequence Viewer
	XP_054215239	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC64249	(Get FASTA)	NCBI Sequence Viewer
	AAH36817	(Get FASTA)	NCBI Sequence Viewer
	AAP97324	(Get FASTA)	NCBI Sequence Viewer
	BAG63499	(Get FASTA)	NCBI Sequence Viewer
	CBH19283	(Get FASTA)	NCBI Sequence Viewer
	EAW69684	(Get FASTA)	NCBI Sequence Viewer
	EAW69685	(Get FASTA)	NCBI Sequence Viewer
	EAW69686	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000252037
	ENSP00000252037.4
	ENSP00000394952
	ENSP00000394952.2
	ENSP00000402360
	ENSP00000416277
	ENSP00000416277.2
	ENSP00000497448
GenBank Protein	O75344	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001128683 ⟸ NM_001135211
- Peptide Label:	isoform b
- UniProtKB:	O75344 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSASSWPQNGMPPSSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKTPRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTV LFEIELLDFLDCAESDKFCALSAEQQDQFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQ ACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES hide sequence

RefSeq Acc Id:	NP_003593 ⟸ NM_003602
- Peptide Label:	isoform a
- UniProtKB:	Q7Z4T4 (UniProtKB/Swiss-Prot), G3V0I2 (UniProtKB/Swiss-Prot), B4DXT7 (UniProtKB/Swiss-Prot), Q9UDS0 (UniProtKB/Swiss-Prot), O75344 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSNYFRKTPRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIP PNTTVLFEIELLDFLDCAESDKFCALSAEQQDQFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKAL FRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES hide sequence

RefSeq Acc Id:	NP_001268233 ⟸ NM_001281304
- Peptide Label:	isoform c
- UniProtKB:	O75344 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQ QDQFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAKLPVLLNLSFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFN HDINNELKKLASCYRDYVDKEKEMWHRMFAPCGDGSTAGES hide sequence

RefSeq Acc Id:	NP_001349718 ⟸ NM_001362789
- Peptide Label:	isoform d
- UniProtKB:	C9JM01 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000252037 ⟸ ENST00000252037

Protein Domains

PPIase FKBP-type

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O75344-F1-model_v2	AlphaFold	O75344	1-327	view protein structure

RGD ID:

7210757

Promoter ID:

EPDNEW_H11125

Type:

initiation region

Name:

FKBP6_1

Description:

FK506 binding protein 6

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	73,328,219 - 73,328,279	EPDNEW

Database	Acc Id	Source(s)
COSMIC	FKBP6	COSMIC
Ensembl Genes	ENSG00000077800	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000252037	ENTREZGENE
	ENST00000252037.5	UniProtKB/Swiss-Prot
	ENST00000413573	ENTREZGENE
	ENST00000413573.6	UniProtKB/Swiss-Prot
	ENST00000431982	ENTREZGENE
	ENST00000431982.6	UniProtKB/Swiss-Prot
	ENST00000442793	ENTREZGENE
	ENST00000648538	ENTREZGENE
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot
	3.10.50.40	UniProtKB/Swiss-Prot
GTEx	ENSG00000077800	GTEx
HGNC ID	HGNC:3722	ENTREZGENE
Human Proteome Map	FKBP6	Human Proteome Map
InterPro	FKBP6/shu	UniProtKB/Swiss-Prot
	PPIase_dom_sf	UniProtKB/Swiss-Prot
	PPIase_FKBP_dom	UniProtKB/Swiss-Prot
	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot
	TPR_repeat	UniProtKB/Swiss-Prot
KEGG Report	hsa:8468	UniProtKB/Swiss-Prot
NCBI Gene	8468	ENTREZGENE
OMIM	604839	OMIM
PANTHER	INACTIVE PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP6	UniProtKB/Swiss-Prot
	PTHR46674	UniProtKB/Swiss-Prot
Pfam	FKBP_C	UniProtKB/Swiss-Prot
PharmGKB	PA28163	PharmGKB
PROSITE	FKBP_PPIASE	UniProtKB/Swiss-Prot
	TPR_REGION	UniProtKB/Swiss-Prot
SMART	TPR	UniProtKB/Swiss-Prot
Superfamily-SCOP	FKBP-like	UniProtKB/Swiss-Prot
	SSF48452	UniProtKB/Swiss-Prot
UniProt	A0A3B3IST2	ENTREZGENE, UniProtKB/TrEMBL
	B4DXT7	ENTREZGENE
	C9JM01	ENTREZGENE, UniProtKB/TrEMBL
	F8WD36_HUMAN	UniProtKB/TrEMBL
	F8WD38_HUMAN	UniProtKB/TrEMBL
	FKBP6_HUMAN	UniProtKB/Swiss-Prot
	G3V0I2	ENTREZGENE
	O75344	ENTREZGENE
	Q7Z4T4	ENTREZGENE
	Q9UDS0	ENTREZGENE
UniProt Secondary	B4DXT7	UniProtKB/Swiss-Prot
	G3V0I2	UniProtKB/Swiss-Prot
	Q7Z4T4	UniProtKB/Swiss-Prot
	Q9UDS0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2020-09-28	FKBP6	FKBP prolyl isomerase family member 6 (inactive)	FKBP6	FKBP prolyl isomerase 6	Symbol and/or name change	19259463	PROVISIONAL
2018-11-06	FKBP6	FKBP prolyl isomerase 6	FKBP6	FK506 binding protein 6	Symbol and/or name change	5135510	APPROVED
2015-11-17	FKBP6	FK506 binding protein 6	FKBP6	FK506 binding protein 6, 36kDa	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar

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