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Gene: ALKBH5 (alkB homolog 5, RNA demethylase) Homo sapiens

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Symbol:

ALKBH5

Name:

alkB homolog 5, RNA demethylase

RGD ID:

1603209

HGNC Page

HGNC:25996

Description:

Enables mRNA N6-methyladenosine dioxygenase activity and molecular condensate scaffold activity. Involved in membraneless organelle assembly; post-transcriptional regulation of gene expression; and response to hypoxia. Acts upstream of or within regulation of mRNA export from nucleus and regulation of mRNA processing. Located in Golgi apparatus; cytosol; and nuclear speck. Is active in paraspeckles.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ABH5; AlkB family member 5, RNA demethylase; alkB, alkylation repair homolog 5; alkylated DNA repair protein alkB homolog 5; alpha-ketoglutarate-dependent dioxygenase alkB homolog 5; FLJ20308; OFOXD; OFOXD1; oxoglutarate and iron-dependent oxygenase domain containing; probable alpha-ketoglutarate-dependent dioxygenase ABH5; RNA demethylase ALKBH5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	17	18,183,828 - 18,209,954 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	18,183,078 - 18,209,954 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	18,087,142 - 18,113,268 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	18,027,592 - 18,053,993 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	19,028,003 - 19,054,331 (+)	NCBI		Celera
Cytogenetic Map	17	p11.2	NCBI
HuRef	17	17,840,215 - 17,866,584 (+)	NCBI		HuRef
CHM1_1	17	18,095,612 - 18,122,007 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	18,130,641 - 18,156,760 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

Birt-Hogg-Dube syndrome (IAGP)

common variable immunodeficiency 2 (IAGP)

Joubert syndrome 1 (IAGP)

multiple myeloma (EXP)

Potocki-Lupski syndrome (IAGP)

pre-eclampsia (EXP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

1,2-dimethylhydrazine (ISO)

1,4-benzoquinone (EXP,ISO)

2,3',4,4',5-Pentachlorobiphenyl (ISO)

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

2,4,6-tribromophenol (ISO)

2,4,6-trichlorophenol (ISO)

4,4'-sulfonyldiphenol (EXP)

acetamide (ISO)

Aflatoxin B2 alpha (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (ISO)

benzene (ISO)

benzo[a]pyrene (ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

cadmium dichloride (EXP)

caffeine (EXP)

chloroprene (ISO)

cobalt atom (EXP,ISO)

cobalt dichloride (EXP,ISO)

copper atom (ISO)

copper(0) (ISO)

coumarin (EXP)

diarsenic trioxide (ISO)

Dibutyl phosphate (EXP)

dioxygen (EXP,ISO)

endosulfan (ISO)

ethanol (ISO)

folic acid (ISO)

formaldehyde (EXP)

FR900359 (EXP)

fulvestrant (EXP)

fumonisin B1 (EXP)

isoflurane (ISO)

mercury dichloride (ISO)

methyl methanesulfonate (EXP)

mono(2-ethylhexyl) phthalate (EXP,ISO)

N(4)-hydroxycytidine (ISO)

N(gamma)-nitro-L-arginine methyl ester (ISO)

N-acetyl-L-cysteine (EXP,ISO)

paracetamol (ISO)

paraquat (ISO)

perfluorooctane-1-sulfonic acid (ISO)

sevoflurane (ISO)

silicon dioxide (ISO)

sodium arsenite (EXP)

Soman (ISO)

sunitinib (EXP)

thallium(I) acetate (EXP)

titanium dioxide (ISO)

Tributyltin oxide (ISO)

urethane (EXP)

valproic acid (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell differentiation (IEA)

gamma-delta T cell proliferation (IEA,ISO)

membraneless organelle assembly (IDA)

mRNA destabilization (IDA,IEA,ISS)

mRNA processing (IEA)

regulation of mRNA export from nucleus (IMP)

regulation of mRNA processing (IMP)

regulation of mRNA stability (IEA)

regulation of translation (IDA)

response to hypoxia (IDA)

spermatogenesis (IEA,ISS)

Cellular Component

cytosol (IDA)

Golgi apparatus (IDA)

nuclear speck (IDA,IEA)

nucleoplasm (IDA,TAS)

nucleus (IBA,IDA,IEA)

paraspeckles (IDA)

Molecular Function

2-oxoglutarate-dependent dioxygenase activity (IDA)

dioxygenase activity (IEA)

lysophospholipase activity (ISO)

metal ion binding (IEA)

molecular condensate scaffold activity (IDA)

mRNA N6-methyladenosine dioxygenase activity (IDA,IEA)

oxidative RNA demethylase activity (IBA,IEA)

RNA binding (HDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Agenesis of cerebellar vermis (IAGP)

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889548	PMID:11997338	PMID:12477932	PMID:14702039	PMID:15489334	PMID:19322201	PMID:21264265	PMID:21873635	PMID:22020285	PMID:22113938	PMID:22658674	PMID:22681889
PMID:23177736	PMID:23251661	PMID:24163370	PMID:24489119	PMID:24616105	PMID:24778178	PMID:26047305	PMID:26496610	PMID:26760575	PMID:27001847	PMID:27156733	PMID:27590511
PMID:27926873	PMID:28344040	PMID:28380382	PMID:29117863	PMID:29229926	PMID:29509190	PMID:29540532	PMID:29568061	PMID:30021884	PMID:30032148	PMID:30196744	PMID:30306128
PMID:30352661	PMID:30585729	PMID:30903744	PMID:30987661	PMID:31281518	PMID:31290116	PMID:31506804	PMID:31527615	PMID:31643040	PMID:31677788	PMID:31897529	PMID:31906946
PMID:31927006	PMID:31974865	PMID:32091154	PMID:32106857	PMID:32329191	PMID:32402250	PMID:32429928	PMID:32449584	PMID:32457219	PMID:32583611	PMID:32685056	PMID:32772918
PMID:32807901	PMID:32884942	PMID:32994395	PMID:33288560	PMID:33321288	PMID:33380386	PMID:33428593	PMID:33431791	PMID:33456585	PMID:33545068	PMID:33934179	PMID:33961781
PMID:33961858	PMID:34016959	PMID:34047466	PMID:34048572	PMID:34079125	PMID:34105279	PMID:34112124	PMID:34189442	PMID:34297301	PMID:34301762	PMID:34304114	PMID:34312488
PMID:34349018	PMID:34597346	PMID:34634806	PMID:34663904	PMID:34670781	PMID:34850551	PMID:35063010	PMID:35114989	PMID:35182329	PMID:35190939	PMID:35271311	PMID:35318440
PMID:35333330	PMID:35344216	PMID:35395767	PMID:35414790	PMID:35444654	PMID:35490460	PMID:35579750	PMID:35689537	PMID:35718974	PMID:35831314	PMID:35944360	PMID:35979628
PMID:35982895	PMID:36028854	PMID:36056355	PMID:36069931	PMID:36215168	PMID:36239338	PMID:36244648	PMID:36273042	PMID:36418936	PMID:36555463	PMID:36566000	PMID:36619747
PMID:36632222	PMID:36705046	PMID:36792369	PMID:36814156	PMID:36864711	PMID:36944332	PMID:37169182	PMID:37203239	PMID:37257451	PMID:37369679	PMID:37381158	PMID:37454738
PMID:37474102	PMID:37499664	PMID:37524872	PMID:37646828	PMID:37740102	PMID:37742191	PMID:37794589	PMID:37848452	PMID:37858219	PMID:37949419	PMID:37966425	PMID:37979586
PMID:38104484	PMID:38114747	PMID:38199493	PMID:38221546	PMID:38227578	PMID:38252669	PMID:38273746	PMID:38306011	PMID:38331303	PMID:38481816	PMID:38501918	PMID:38568805
PMID:38580884	PMID:38637813	PMID:38642004	PMID:38745044	PMID:38822515	PMID:38872221	PMID:38993559	PMID:39166492	PMID:39311450	PMID:39434797	PMID:39441582

Genomics

Comparative Map Data

ALKBH5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	18,183,828 - 18,209,954 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	18,183,078 - 18,209,954 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	18,087,142 - 18,113,268 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	18,027,592 - 18,053,993 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	19,028,003 - 19,054,331 (+)	NCBI		Celera
Cytogenetic Map	17	p11.2	NCBI
HuRef	17	17,840,215 - 17,866,584 (+)	NCBI		HuRef
CHM1_1	17	18,095,612 - 18,122,007 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	18,130,641 - 18,156,760 (+)	NCBI		T2T-CHM13v2.0

Alkbh5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	60,428,509 - 60,449,338 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	60,427,207 - 60,449,338 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	60,537,683 - 60,558,512 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	60,536,381 - 60,558,512 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	60,351,185 - 60,372,014 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	60,354,173 - 60,372,092 (+)	NCBI		MGSCv36	mm8
Celera	11	65,862,595 - 65,871,990 (-)	NCBI		Celera
Cytogenetic Map	11	B2	NCBI
cM Map	11	37.81	NCBI

Alkbh5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	45,844,411 - 45,865,853 (+)	NCBI		GRCr8
mRatBN7.2	10	45,344,888 - 45,366,331 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	45,343,395 - 45,366,331 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	50,045,424 - 50,066,927 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	49,535,808 - 49,557,314 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	45,039,416 - 45,060,918 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	46,906,314 - 46,927,759 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	46,906,115 - 46,930,579 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	46,679,920 - 46,700,727 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	46,811,205 - 46,832,649 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	46,824,567 - 46,845,705 (+)	NCBI
Celera	10	44,601,477 - 44,622,922 (+)	NCBI		Celera
Cytogenetic Map	10	q22	NCBI

Alkbh5
(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_004955478	11,105,920 - 11,128,222 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955478	11,104,445 - 11,128,980 (-)	NCBI	ChiLan1.0	ChiLan1.0

ALKBH5
(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	19	53,057,922 - 53,085,590 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	57,769,067 - 57,795,721 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	32,725,632 - 32,753,021 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	38,003,362 - 38,030,715 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	38,003,362 - 38,030,715 (-)	Ensembl	panpan1.1		panPan2

ALKBH5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	41,339,292 - 41,365,641 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	41,343,241 - 41,364,547 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	41,478,767 - 41,504,424 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	41,445,991 - 41,471,674 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	41,446,003 - 41,472,037 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	41,413,849 - 41,439,509 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	41,361,292 - 41,386,942 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	41,553,123 - 41,578,789 (-)	NCBI		UU_Cfam_GSD_1.0

Alkbh5
(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_024405602	61,112,447 - 61,137,218 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936741	1,729,679 - 1,757,419 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936741	1,729,707 - 1,756,108 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ALKBH5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	60,507,667 - 60,529,733 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	60,507,662 - 60,530,239 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

ALKBH5
(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	16	17,221,643 - 17,249,038 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	17,222,378 - 17,249,117 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666059	3,656,506 - 3,683,620 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Alkbh5
(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_004624849	3,257,459 - 3,280,245 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624849	3,257,460 - 3,280,870 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ALKBH5
18 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 17p11.2(chr17:16936603-18184130)	copy number loss	Brachydactyly [RCV000626512]	Chr17:16936603..18184130 [GRCh37] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	copy number gain	See cases [RCV000050888]	Chr17:16879232..18970941 [GRCh38] Chr17:16782546..18874254 [GRCh37] Chr17:16723271..18814979 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	copy number loss	See cases [RCV000050513]	Chr17:15776915..18771753 [GRCh38] Chr17:15680229..18675066 [GRCh37] Chr17:15620954..18615791 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	copy number loss	See cases [RCV000050602]	Chr17:15898032..20620700 [GRCh38] Chr17:15801346..20524013 [GRCh37] Chr17:15742071..20464605 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	copy number gain	See cases [RCV000050622]	Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	copy number loss	See cases [RCV000050624]	Chr17:16879232..20390725 [GRCh38] Chr17:16782546..20294038 [GRCh37] Chr17:16723271..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	copy number gain	See cases [RCV000051852]	Chr17:15259164..20925299 [GRCh38] Chr17:15162481..20828612 [GRCh37] Chr17:15103206..20769204 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15897832-20620841)x3	copy number gain	See cases [RCV000051853]	Chr17:15897832..20620841 [GRCh38] Chr17:15801146..20524154 [GRCh37] Chr17:15741871..20464746 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	copy number gain	See cases [RCV000051876]	Chr17:16836827..20340442 [GRCh38] Chr17:16740141..20243755 [GRCh37] Chr17:16680866..20184347 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	copy number gain	See cases [RCV000051855]	Chr17:16656168..20390725 [GRCh38] Chr17:16559482..20294038 [GRCh37] Chr17:16500207..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	copy number gain	See cases [RCV000051877]	Chr17:16836827..20504849 [GRCh38] Chr17:16740141..20408162 [GRCh37] Chr17:16680866..20348754 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	copy number gain	See cases [RCV000051879]	Chr17:16919369..20289856 [GRCh38] Chr17:16822683..20193169 [GRCh37] Chr17:16763408..20133761 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	copy number gain	See cases [RCV000051858]	Chr17:16692462..20390725 [GRCh38] Chr17:16595776..20294038 [GRCh37] Chr17:16536501..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	copy number gain	See cases [RCV000051860]	Chr17:16713514..20582527 [GRCh38] Chr17:16616828..20485840 [GRCh37] Chr17:16557553..20426432 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	copy number gain	See cases [RCV000051871]	Chr17:16713515..20340442 [GRCh38] Chr17:16616829..20243755 [GRCh37] Chr17:16557554..20184347 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	copy number gain	See cases [RCV000051849]	Chr17:15234685..20620700 [GRCh38] Chr17:15138002..20524013 [GRCh37] Chr17:15078727..20464605 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	copy number gain	See cases [RCV000051872]	Chr17:16760817..20429770 [GRCh38] Chr17:16664131..20333083 [GRCh37] Chr17:16604856..20273675 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	copy number gain	See cases [RCV000051873]	Chr17:16760818..20504849 [GRCh38] Chr17:16664132..20408162 [GRCh37] Chr17:16604857..20348754 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	copy number gain	See cases [RCV000052477]	Chr17:17667721..18301995 [GRCh38] Chr17:17571035..18205309 [GRCh37] Chr17:17511760..18146034 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	copy number loss	See cases [RCV000054329]	Chr17:15952071..18362819 [GRCh38] Chr17:15855385..18266133 [GRCh37] Chr17:15796110..18206858 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:16060129-20620841)x1	copy number loss	See cases [RCV000054330]	Chr17:16060129..20620841 [GRCh38] Chr17:15963443..20524154 [GRCh37] Chr17:15904168..20464746 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	copy number loss	See cases [RCV000054333]	Chr17:16117885..18362819 [GRCh38] Chr17:16021199..18266133 [GRCh37] Chr17:15961924..18206858 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16361086-18219405)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054335]\|See cases [RCV000054335]	Chr17:16361086..18219405 [GRCh38] Chr17:16264400..18122719 [GRCh37] Chr17:16205125..18063444 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	copy number loss	See cases [RCV000054337]	Chr17:16760818..20390725 [GRCh38] Chr17:16664132..20294038 [GRCh37] Chr17:16604857..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	copy number loss	See cases [RCV000054339]	Chr17:16817557..18362819 [GRCh38] Chr17:16720871..18266133 [GRCh37] Chr17:16661596..18206858 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	copy number loss	See cases [RCV000054355]	Chr17:16836827..20465067 [GRCh38] Chr17:16740141..20368380 [GRCh37] Chr17:16680866..20308972 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	copy number loss	See cases [RCV000054356]	Chr17:16858444..20340442 [GRCh38] Chr17:16761758..20243755 [GRCh37] Chr17:16702483..20184347 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	copy number loss	See cases [RCV000054357]	Chr17:16858444..20465067 [GRCh38] Chr17:16761758..20368380 [GRCh37] Chr17:16702483..20308972 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	copy number loss	See cases [RCV000054359]	Chr17:17150076..18415759 [GRCh38] Chr17:17053390..18319073 [GRCh37] Chr17:16994115..18259798 [NCBI36] Chr17:17p11.2	pathogenic
NM_017758.3(ALKBH5):c.1159C>T (p.Arg387Ter)	single nucleotide variant	Malignant melanoma [RCV000071362]	Chr17:18208370 [GRCh38] Chr17:18111684 [GRCh37] Chr17:18052409 [NCBI36] Chr17:17p11.2	not provided
GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	copy number gain	See cases [RCV000133695]	Chr17:16879232..20316151 [GRCh38] Chr17:16782546..20219464 [GRCh37] Chr17:16723271..20160056 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	copy number gain	See cases [RCV000134467]	Chr17:16854250..20492169 [GRCh38] Chr17:16757564..20395482 [GRCh37] Chr17:16698289..20336074 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1	copy number loss	See cases [RCV000135862]	Chr17:17788412..18333372 [GRCh38] Chr17:17691726..18236686 [GRCh37] Chr17:17632451..18177411 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	copy number loss	See cases [RCV000135874]	Chr17:17331511..20022528 [GRCh38] Chr17:17234825..19925841 [GRCh37] Chr17:17175550..19866433 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	copy number loss	See cases [RCV000135774]	Chr17:16734588..18333372 [GRCh38] Chr17:16637902..18236686 [GRCh37] Chr17:16578627..18177411 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	copy number loss	See cases [RCV000135996]	Chr17:16879233..20390697 [GRCh38] Chr17:16782547..20294010 [GRCh37] Chr17:16723272..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	copy number gain	See cases [RCV000135997]	Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	copy number loss	See cases [RCV000135998]	Chr17:16734558..20390697 [GRCh38] Chr17:16637872..20294010 [GRCh37] Chr17:16578597..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	copy number loss	See cases [RCV000136906]	Chr17:16734588..20390725 [GRCh38] Chr17:16637902..20294038 [GRCh37] Chr17:16578627..20234630 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	copy number loss	See cases [RCV000136951]	Chr17:16734588..20316151 [GRCh38] Chr17:16637902..20219464 [GRCh37] Chr17:16578627..20160056 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	copy number gain	See cases [RCV000137171]	Chr17:15210400..18280816 [GRCh38] Chr17:15113717..18184130 [GRCh37] Chr17:15054442..18124855 [NCBI36] Chr17:17p12-11.2	pathogenic\|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	copy number loss	See cases [RCV000137974]	Chr17:16699816..20390725 [GRCh38] Chr17:16603130..20294038 [GRCh37] Chr17:16543855..20234630 [NCBI36] Chr17:17p11.2	pathogenic\|likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	copy number gain	See cases [RCV000138255]	Chr17:16854250..20492214 [GRCh38] Chr17:16757564..20395527 [GRCh37] Chr17:16698289..20336119 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17331511-19017784)x3	copy number gain	See cases [RCV000138572]	Chr17:17331511..19017784 [GRCh38] Chr17:17234825..18921097 [GRCh37] Chr17:17175550..18861822 [NCBI36] Chr17:17p11.2	uncertain significance
GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	copy number loss	See cases [RCV000139239]	Chr17:16989087..20370816 [GRCh38] Chr17:16892401..20274129 [GRCh37] Chr17:16833126..20214721 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3	copy number gain	See cases [RCV000139243]	Chr17:17748602..18551638 [GRCh38] Chr17:17651916..18454952 [GRCh37] Chr17:17592641..18395677 [NCBI36] Chr17:17p11.2	likely benign
GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	copy number gain	See cases [RCV000139188]	Chr17:16854250..20560048 [GRCh38] Chr17:16757564..20463361 [GRCh37] Chr17:16698289..20403953 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	copy number gain	See cases [RCV000140217]	Chr17:16699694..20530646 [GRCh38] Chr17:16603008..20433959 [GRCh37] Chr17:16543733..20374551 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	copy number loss	See cases [RCV000139510]	Chr17:15883037..20620700 [GRCh38] Chr17:15786351..20524013 [GRCh37] Chr17:15727076..20464605 [NCBI36] Chr17:17p12-11.2	pathogenic\|likely pathogenic
GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	copy number loss	See cases [RCV000139558]	Chr17:16656162..20390697 [GRCh38] Chr17:16559476..20294010 [GRCh37] Chr17:16500201..20234602 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	copy number loss	See cases [RCV000141105]	Chr17:17018951..20148630 [GRCh38] Chr17:16922265..20051943 [GRCh37] Chr17:16862990..19992535 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	copy number gain	See cases [RCV000140852]	Chr17:16699816..20492214 [GRCh38] Chr17:16603130..20395527 [GRCh37] Chr17:16543855..20336119 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	copy number loss	See cases [RCV000141975]	Chr17:16838097..20436415 [GRCh38] Chr17:16741411..20339728 [GRCh37] Chr17:16682136..20280320 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	copy number loss	See cases [RCV000141729]	Chr17:17067833..19019419 [GRCh38] Chr17:16971147..18922732 [GRCh37] Chr17:16911872..18863457 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3	copy number gain	See cases [RCV000142462]	Chr17:18077127..18521388 [GRCh38] Chr17:17980441..18424702 [GRCh37] Chr17:17921166..18365427 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	copy number gain	See cases [RCV000142075]	Chr17:16858500..20570955 [GRCh38] Chr17:16761814..20474268 [GRCh37] Chr17:16702539..20414860 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	copy number gain	See cases [RCV000142169]	Chr17:15552362..19014200 [GRCh38] Chr17:15455676..18917513 [GRCh37] Chr17:15396401..18858238 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	copy number loss	See cases [RCV000142986]	Chr17:16734588..18834703 [GRCh38] Chr17:16637902..18738016 [GRCh37] Chr17:16578627..18678741 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	copy number gain	See cases [RCV000143381]	Chr17:16696708..20492860 [GRCh38] Chr17:16600022..20396173 [GRCh37] Chr17:16540747..20336765 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	copy number gain	See cases [RCV000143417]	Chr17:16718415..20546210 [GRCh38] Chr17:16621729..20449523 [GRCh37] Chr17:16562454..20390115 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	copy number loss	See cases [RCV000143181]	Chr17:16699816..20428292 [GRCh38] Chr17:16603130..20331605 [GRCh37] Chr17:16543855..20272197 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	copy number loss	See cases [RCV000143210]	Chr17:16858500..20559337 [GRCh38] Chr17:16761814..20462650 [GRCh37] Chr17:16702539..20403242 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	copy number loss	See cases [RCV000143177]	Chr17:15883037..20658018 [GRCh38] Chr17:15786351..20561331 [GRCh37] Chr17:15727076..20501923 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	copy number gain	See cases [RCV000143715]	Chr17:16426633..20998588 [GRCh38] Chr17:16329947..20901901 [GRCh37] Chr17:16270672..20842493 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	copy number loss	See cases [RCV000143650]	Chr17:15850859..20649235 [GRCh38] Chr17:15754173..20552548 [GRCh37] Chr17:15694898..20493140 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	copy number loss	See cases [RCV000143596]	Chr17:16853120..20436482 [GRCh38] Chr17:16756434..20339795 [GRCh37] Chr17:16697159..20280387 [NCBI36] Chr17:17p11.2	pathogenic
GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	copy number loss	See cases [RCV000143485]	Chr17:15729893..20510251 [GRCh38] Chr17:15633207..20413564 [GRCh37] Chr17:15573932..20354156 [NCBI36] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	copy number loss	See cases [RCV000449069]	Chr17:16603130..20261191 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	copy number gain	See cases [RCV000240104]	Chr17:15767020..20261250 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	copy number loss	See cases [RCV000239910]	Chr17:17053390..19893098 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	copy number loss	See cases [RCV000240274]	Chr17:16654302..20261250 [GRCh37] Chr17:17p11.2	pathogenic
arr[hg19]17p11.2(16,757,111-20,219,651)x3	duplication	Potocki-Lupski syndrome [RCV000591005]	Chr17:16757111..20219651 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3	copy number gain	See cases [RCV000449384]	Chr17:16740141..20261191 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-18722974)x1	copy number loss	See cases [RCV000449355]	Chr17:16651292..18722974 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:10771948-21510992)x1	copy number loss	See cases [RCV000447345]	Chr17:10771948..21510992 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	copy number loss	See cases [RCV000446498]	Chr17:15745315..20261191 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20304295)x1	copy number loss	See cases [RCV000446300]	Chr17:16761814..20304295 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	copy number loss	See cases [RCV000446465]	Chr17:16637902..20261250 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17262786-18250574)x3	copy number gain	See cases [RCV000447624]	Chr17:17262786..18250574 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741771-20430791)x3	copy number gain	See cases [RCV000445753]	Chr17:16741771..20430791 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1	copy number loss	See cases [RCV000448145]	Chr17:16757564..20261191 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20304154)x1	copy number loss	See cases [RCV000448636]	Chr17:16741411..20304154 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20449523)x1	copy number loss	See cases [RCV000448404]	Chr17:16741411..20449523 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20408379)x1	copy number loss	See cases [RCV000447955]	Chr17:16741411..20408379 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20462723)x1	copy number loss	See cases [RCV000448752]	Chr17:16761814..20462723 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20433502)x3	copy number gain	See cases [RCV000448097]	Chr17:16772264..20433502 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	copy number loss	See cases [RCV000510506]	Chr17:16745600..20396173 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	copy number loss	See cases [RCV000510254]	Chr17:17200426..21900910 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	copy number gain	See cases [RCV000510267]	Chr17:16761814..20339795 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	copy number loss	See cases [RCV000511412]	Chr17:16727264..20413564 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	copy number loss	See cases [RCV000511915]	Chr17:16772264..20297091 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	copy number loss	See cases [RCV000511460]	Chr17:16741411..20410218 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	copy number gain	See cases [RCV000511433]	Chr17:16738161..20338182 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	copy number loss	See cases [RCV000511111]	Chr17:16727264..20395889 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	copy number gain	See cases [RCV000511042]	Chr17:16651292..20437532 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16842163-20217777)	copy number gain	Delayed speech and language development [RCV000626511]	Chr17:16842163..20217777 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16782546-20294038)	copy number loss	Sleep abnormality [RCV000626510]	Chr17:16782546..20294038 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	copy number gain	See cases [RCV000512356]	Chr17:16591260..20473937 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	copy number loss	See cases [RCV000512446]	Chr17:16741411..20489023 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	copy number loss	not provided [RCV000683897]	Chr17:16727264..20310241 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	copy number gain	not provided [RCV000683900]	Chr17:16761814..20292897 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	copy number loss	not provided [RCV000683901]	Chr17:16999980..20298979 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	copy number loss	not provided [RCV000683902]	Chr17:17021607..20015978 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	copy number loss	not provided [RCV000683898]	Chr17:16741411..20430791 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17857310-18122856)x3	copy number gain	not provided [RCV000683905]	Chr17:17857310..18122856 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p11.2(chr17:16768248-20391959)x1	copy number loss	not provided [RCV000739423]	Chr17:16768248..20391959 [GRCh37] Chr17:17p11.2	pathogenic
Single allele	duplication	Autism [RCV000754201]	Chr17:16770855..20422847 [GRCh38] Chr17:17p11.2	pathogenic
NC_000017.11:g.(?_16770855)_(20585863_?)del	deletion	Autism [RCV000754202]	Chr17:16770855..20585863 [GRCh38] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16660721-20417975)x1	copy number loss	not provided [RCV000739417]	Chr17:16660721..20417975 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:15796140-20331131)x3	copy number gain	not provided [RCV000751941]	Chr17:15796140..20331131 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1	copy number loss	See cases [RCV000790581]	Chr17:16908991..18322254 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16842991-20217316)	copy number loss	Smith-Magenis syndrome [RCV000767738]	Chr17:16842991..20217316 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17579860-18469185)	copy number gain	Potocki-Lupski syndrome [RCV002280640]	Chr17:17579860..18469185 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	copy number loss	not provided [RCV001006874]	Chr17:15632431..18726389 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20370783)	copy number gain	Potocki-Lupski syndrome [RCV003236713]	Chr17:16664739..20370783 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	copy number loss	not provided [RCV001259296]	Chr17:15810015..18537436 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17151140-20187953)	copy number loss	Smith-Magenis syndrome [RCV002280652]	Chr17:17151140..20187953 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	copy number gain	not provided [RCV001259290]	Chr17:16761814..20330062 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	copy number loss	not provided [RCV001259291]	Chr17:16763370..20395611 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16601603-20063369)	copy number gain	Potocki-Lupski syndrome [RCV001352635]	Chr17:16601603..20063369 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:17145361-20137943)	copy number loss	Smith-Magenis syndrome [RCV001352632]	Chr17:17145361..20137943 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	copy number gain	Potocki-Lupski syndrome [RCV001801179]	Chr17:16829153..20361747 [GRCh37] Chr17:17p11.2	pathogenic
NC_000017.10:g.(?_16842861)_(18218092_?)dup	duplication	Birt-Hogg-Dube syndrome [RCV003120781]\|not provided [RCV001949508]	Chr17:16842861..18218092 [GRCh37] Chr17:17p11.2	pathogenic\|uncertain significance\|no classifications from unflagged records
NC_000017.10:g.(?_16842861)_(19578885_?)del	deletion	Immunodeficiency, common variable, 2 [RCV002049406]\|Joubert syndrome [RCV002047402]	Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	copy number loss	not provided [RCV002211424]	Chr17:16664739..20217378 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16651292-20286898)	copy number loss	Smith-Magenis syndrome [RCV002280651]	Chr17:16651292..20286898 [GRCh37] Chr17:17p11.2	pathogenic
NC_000017.10:g.(?_16842861)_(19578885_?)dup	duplication	Familial aplasia of the vermis [RCV003116613]\|Immunodeficiency, common variable, 2 [RCV003116614]	Chr17:16842861..19578885 [GRCh37] Chr17:17p11.2	uncertain significance
Single allele	complex	PMP22-RAI1 contiguous gene duplication syndrome [RCV002280690]	Chr17:14876984..22124952 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	copy number gain	See cases [RCV002292216]	Chr17:16736709..20339460 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	copy number gain	not provided [RCV002474502]	Chr17:17103571..19331028 [GRCh37] Chr17:17p11.2	pathogenic
NM_017758.4(ALKBH5):c.917A>G (p.Tyr306Cys)	single nucleotide variant	not specified [RCV004082449]	Chr17:18206880 [GRCh38] Chr17:18110194 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.335C>T (p.Ser112Phe)	single nucleotide variant	not specified [RCV004239490]	Chr17:18184578 [GRCh38] Chr17:18087892 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.278G>A (p.Arg93His)	single nucleotide variant	not specified [RCV004240067]	Chr17:18184521 [GRCh38] Chr17:18087835 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.926A>T (p.Asp309Val)	single nucleotide variant	not specified [RCV004264761]	Chr17:18206889 [GRCh38] Chr17:18110203 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.325G>A (p.Glu109Lys)	single nucleotide variant	not specified [RCV004265142]	Chr17:18184568 [GRCh38] Chr17:18087882 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	copy number loss	not provided [RCV003222939]	Chr17:17116969..20217378 [GRCh37] Chr17:17p11.2	pathogenic
NM_017758.4(ALKBH5):c.361G>C (p.Glu121Gln)	single nucleotide variant	not specified [RCV004347085]	Chr17:18184604 [GRCh38] Chr17:18087918 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.968A>T (p.Lys323Met)	single nucleotide variant	not specified [RCV004345593]	Chr17:18206931 [GRCh38] Chr17:18110245 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.301G>T (p.Ala101Ser)	single nucleotide variant	not specified [RCV004346656]	Chr17:18184544 [GRCh38] Chr17:18087858 [GRCh37] Chr17:17p11.2	uncertain significance
GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	copy number loss	not provided [RCV003483314]	Chr17:15694772..20582794 [GRCh37] Chr17:17p12-11.2	pathogenic
Single allele	duplication	not provided [RCV003448668]	Chr17:16757513..18772328 [GRCh37] Chr17:17p11.2	pathogenic
GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	copy number loss	not provided [RCV003483315]	Chr17:16651293..20450566 [GRCh37] Chr17:17p11.2	pathogenic
NM_017758.4(ALKBH5):c.570C>T (p.Ala190=)	single nucleotide variant	not provided [RCV003428177]	Chr17:18184813 [GRCh38] Chr17:18088127 [GRCh37] Chr17:17p11.2	likely benign
GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	copy number loss	not specified [RCV003987246]	Chr17:15759103..20564268 [GRCh37] Chr17:17p12-11.2	pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	copy number gain	not specified [RCV003987215]	Chr17:525..21510992 [GRCh37] Chr17:17p13.3-11.2	pathogenic
NM_017758.4(ALKBH5):c.53C>T (p.Thr18Met)	single nucleotide variant	not specified [RCV004398681]	Chr17:18184296 [GRCh38] Chr17:18087610 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.392A>G (p.Asn131Ser)	single nucleotide variant	not specified [RCV004398674]	Chr17:18184635 [GRCh38] Chr17:18087949 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.789A>C (p.Glu263Asp)	single nucleotide variant	not specified [RCV004398688]	Chr17:18194973 [GRCh38] Chr17:18098287 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.437A>G (p.Gln146Arg)	single nucleotide variant	not specified [RCV004633522]	Chr17:18184680 [GRCh38] Chr17:18087994 [GRCh37] Chr17:17p11.2	uncertain significance
NM_017758.4(ALKBH5):c.47C>A (p.Ser16Tyr)	single nucleotide variant	not specified [RCV004633511]	Chr17:18184290 [GRCh38] Chr17:18087604 [GRCh37] Chr17:17p11.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1625
Count of miRNA genes:	700
Interacting mature miRNAs:	798
Transcripts:	ENST00000399138, ENST00000490106, ENST00000541285
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298406	BP16_H	Blood pressure QTL 16 (human)		0.0004	Blood pressure	hypertension susceptibility	17	14778647	40778647	Human

Markers in Region

RH75515

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	18,112,629 - 18,112,829	UniSTS	GRCh37
Build 36	17	18,053,354 - 18,053,554	RGD	NCBI36
Celera	17	19,053,692 - 19,053,892	RGD
Cytogenetic Map	17	p11.2	UniSTS
HuRef	17	17,865,945 - 17,866,145	UniSTS

D17S976

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	18,104,934 - 18,105,201	UniSTS	GRCh37
Build 36	17	18,045,659 - 18,045,926	RGD	NCBI36
Celera	17	19,046,008 - 19,046,271	RGD
Cytogenetic Map	17	p11.2	UniSTS
HuRef	17	17,858,280 - 17,858,524	UniSTS

STS-H01962

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	18,113,093 - 18,113,242	UniSTS	GRCh37
Build 36	17	18,053,818 - 18,053,967	RGD	NCBI36
Celera	17	19,054,156 - 19,054,305	RGD
Cytogenetic Map	17	p11.2	UniSTS
HuRef	17	17,866,409 - 17,866,558	UniSTS
GeneMap99-GB4 RH Map	17	102.65	UniSTS

Expression

RNA-SEQ Expression

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

Download All Expressed Objects for this Gene

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	visual system
1204	2438	2788	2250	4967	1726	2349	5	623	1950	465	2269	7296	6463	52	3729	850	1741	1614	175	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_017758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC087164	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC109515	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000315	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025817	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC062339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI823385	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU740432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471196	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC877644	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000399138 ⟹ ENSP00000382091

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	18,183,828 - 18,209,954 (+)	Ensembl

Ensembl Acc Id:

ENST00000490106

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	18,206,561 - 18,209,954 (+)	Ensembl

Ensembl Acc Id:

ENST00000541285 ⟹ ENSP00000468116

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	18,183,078 - 18,209,398 (+)	Ensembl

RefSeq Acc Id:

NM_017758 ⟹ NP_060228

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	18,183,828 - 18,209,954 (+)	NCBI
GRCh37	17	18,086,867 - 18,113,268 (+)	RGD
Build 36	17	18,027,592 - 18,053,993 (+)	NCBI Archive
Celera	17	19,028,003 - 19,054,331 (+)	RGD
HuRef	17	17,840,215 - 17,866,584 (+)	ENTREZGENE
CHM1_1	17	18,095,612 - 18,122,007 (+)	NCBI
T2T-CHM13v2.0	17	18,130,641 - 18,156,760 (+)	NCBI

Sequence:

show sequence

GAGGAGCCCGCTAAGGAGCGGCGCTGGCGGACGTCGGGCTGGCTGCCCGTGACGTCGTGCGGAG
AGCTTTAAAGTGCGGGCCGGGCCGGGCGTCCGAGGGTCTGGTCGGGAGTCGGGCCGCGTCTCCG
CAGCAGCCCTCCGCGGCATGAGGCGCTGCCGGCGCCCCTGCCCCGCGGGACGTGGAGAAGGTGG
AGGAGGAAGAAGCCCCGTTGTCGCCACCGTTGCATGACCCGCCGCTCCTGAGGCCCTACCCCAC
GCCCGGACCCTCGACGCCCCCCGCCGGGTCCCCCACTCACGCATGGGGGTTCGGCGCTAAGGAC
CCCCCTCCCTCCGGGGGCCCCGGGGCGCGTCCCCTTAGAGCCATGCCCGGCTGCCCCGCCCGCC
CCGGAGGACCCTAGAGCAGCGTCGTGGGGGCCATGGCGGCCGCCAGCGGCTACACGGACCTGCG
TGAGAAGCTCAAGTCCATGACGTCCCGGGACAACTATAAGGCGGGCAGCCGGGAGGCCGCCGCC
GCTGCCGCAGCCGCCGTAGCCGCCGCAGCCGCAGCCGCCGCTGCCGCCGAACCTTACCCTGTGT
CCGGGGCCAAGCGCAAGTATCAGGAGGACTCGGACCCCGAGCGCAGCGACTATGAGGAGCAGCA
GCTGCAGAAGGAGGAGGAGGCGCGCAAGGTGAAGAGCGGCATCCGCCAGATGCGCCTCTTCAGC
CAGGACGAGTGCGCCAAGATCGAGGCCCGCATTGACGAGGTGGTGTCCCGCGCTGAGAAGGGCC
TGTACAACGAGCACACGGTGGACCGGGCCCCACTGCGCAACAAGTACTTCTTCGGCGAAGGCTA
CACTTACGGCGCCCAGCTGCAGAAGCGCGGGCCCGGCCAGGAGCGCCTCTACCCGCCGGGCGAC
GTGGACGAGATCCCCGAGTGGGTGCACCAGCTGGTGATCCAAAAGCTGGTGGAGCACCGCGTCA
TCCCCGAGGGCTTCGTCAACAGCGCCGTCATCAACGACTACCAGCCCGGCGGCTGCATCGTGTC
TCACGTGGACCCCATCCACATCTTCGAGCGCCCCATCGTGTCCGTGTCCTTCTTTAGCGACTCT
GCGCTGTGCTTCGGCTGCAAGTTCCAGTTCAAGCCTATTCGGGTGTCGGAACCAGTGCTTTCCC
TGCCGGTGCGCAGGGGAAGCGTGACTGTGCTCAGTGGATATGCTGCTGATGAAATCACTCACTG
CATACGGCCTCAGGACATCAAGGAGCGCCGAGCAGTCATCATCCTCAGGAAGACAAGATTAGAT
GCACCCCGGTTGGAAACAAAGTCCCTGAGCAGCTCCGTGTTACCACCCAGCTATGCTTCAGATC
GCCTGTCAGGAAACAACAGGGACCCTGCTCTGAAACCCAAGCGGTCCCACCGCAAGGCAGACCC
TGATGCTGCCCACAGGCCACGGATCCTGGAGATGGACAAGGAAGAGAACCGGCGCTCGGTGCTG
CTGCCCACACACCGGCGGAGGGGTAGCTTCAGCTCTGAGAACTACTGGCGCAAGTCATACGAGT
CCTCAGAGGACTGCTCTGAGGCAGCAGGCAGCCCTGCCCGAAAGGTGAAGATGCGGCGGCACTG
AGTCTACCCGCCGCCCTCCTGGGAACTCTGGCTCATCCTTACGTAGTTGCCCCTCCTTTTGTTT
TGAGGGTTTTGTTTTTGTTCATTGGGGGGTTTTTGTTTTTTGTTTTTTGTTTTTTTTGATTCTA
TATATTTTTCCTTGGTTTTGTTGCCTGTTAGGGCTGAAGAATAGAATTGGCCAGGACCTAGGTT
CTCATATTCTTGGTATTCCTCCTGGATGGAAAGGCTGTTGGCATCAATAGGGGACAGAGGCTGA
TGCTGGAGTGGCCAGTAGAGGTGGTGGAGCAGAGCAGCCATCTTTTAAGTGGGGCTGTATCAGG
CTGGGTTTATTTAAAAGCAACAAAATGTTTTGGTTAAGAAAATTATTTTGCTTTCAGTGTAAAT
CTTCGCAGTGTTCTAAACAAAGTTCAGTCTTCTGCTCGCCCCTTTCCCTCACTGATGTCTGCAC
TTGGTTGAGGTCTCCTGGAGCCTCACAGGCTCTGCTGTTCTCCACTTCTCACCTGCCATCCACG
CCCTGCAAGCTCATGCAAACACCCTTTCTTCCTCCTGCGGCAGAGTTGTTCAGGTTGCCTGGGC
AGGGGCTTAAACAGTGCCAGCCCCTGCCATCCCAAAGCTATTGTTAAGCCCCCCAGGCGTCCTC
CACCCACGCCCACTAGCCTGCCATGTCCACAGTTCCTTGGGCTGCTGAGGGGCTAGTGCAGTGG
TCCTGACCTCTCTTATCAAGAGCACACTTCTTTGCTGGTTGCTCCTTTTGAGCATATGCGTGTG
ATTATTTGGAACAGTTAGACTTGCCACGTTGGGTCAGTTTTAGAAATTGTTTCTAGCTAGAGGG
ACTGGTGTCCTTCCAAGTCTAGCATTTGGGGTATGGAAAATTGTTGTGGTGTGTGGTAGGGTTT
TTGTTTTCTTTTTTGAGTTTTTTTTCCCCCTTTAGTCTCCTGGCTTTTTCCTTTCCCTTCCCTT
CTCCACTGGCCAGCTTGGGCCTCATCCTCATGTCATCCTTCTAGGAAGGCGCCTGCCCCATCTT
GTCTGCCGGCAGCATGCATCCAAGGCCAGAGCTCAGGCCTGCAGACTGGGCTGGTGCCTCCTCC
GCTTCAGGGTATGGGAGTTGGTGAAGGGGCTTTCAAAAAATAATAAGGAAAAAAAGGTAAAGTC
TTTGGTAGCTTCTATCCACTCAGATCCTGGAAGGCAGCAAGGTTTTGTGGATCTAGATTCATTA
GGAATGTCTTCTTGTCAGCCAGGCCAGGACCCGGGCTTGCCAAGAGCAGAGGCCCTCCCAGCAA
CCAGGATACCACCACTTTGGGGGCTTTGTGTACAGAGGTCCGGGTCTGAGACCTCATAGGCTGC
AGAAATCTGGGGCAGCCACCATCAAGAAGCCCCTCTCAGGGGCCAGAACTCCTTTGCCAGCGTG
GATTTCTCAAGTCGGGACTGCATAATTAAAGCAGTTGCAGTTTTATTTTTTTTACAGCTTTTTT
CCCAAAAATGATTTGTAGTTGTGTGTGCAGCACTTCGCCCTGATATGTGTGCTCTACAATAAAA
ACCAAATCTAATATATTTTGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_060228	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH62339	(Get FASTA)	NCBI Sequence Viewer
	BAA91078	(Get FASTA)	NCBI Sequence Viewer
	BAG62706	(Get FASTA)	NCBI Sequence Viewer
	EAW55661	(Get FASTA)	NCBI Sequence Viewer
	EAW55662	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000382091
	ENSP00000382091.4
	ENSP00000468116.1
GenBank Protein	Q6P6C2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_060228 ⟸ NM_017758

- UniProtKB:

D3DXC6 (UniProtKB/Swiss-Prot), B4DVJ4 (UniProtKB/Swiss-Prot), Q9NXD6 (UniProtKB/Swiss-Prot), Q6P6C2 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAAASGYTDLREKLKSMTSRDNYKAGSREAAAAAAAAVAAAAAAAAAAEPYPVSGAKRKYQEDS
DPERSDYEEQQLQKEEEARKVKSGIRQMRLFSQDECAKIEARIDEVVSRAEKGLYNEHTVDRAP
LRNKYFFGEGYTYGAQLQKRGPGQERLYPPGDVDEIPEWVHQLVIQKLVEHRVIPEGFVNSAVI
NDYQPGGCIVSHVDPIHIFERPIVSVSFFSDSALCFGCKFQFKPIRVSEPVLSLPVRRGSVTVL
SGYAADEITHCIRPQDIKERRAVIILRKTRLDAPRLETKSLSSSVLPPSYASDRLSGNNRDPAL
KPKRSHRKADPDAAHRPRILEMDKEENRRSVLLPTHRRRGSFSSENYWRKSYESSEDCSEAAGS
PARKVKMRRH

hide sequence

Ensembl Acc Id:

ENSP00000468116 ⟸ ENST00000541285

Ensembl Acc Id:

ENSP00000382091 ⟸ ENST00000399138

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6P6C2-F1-model_v2	AlphaFold	Q6P6C2	1-394	view protein structure

Promoters

RGD ID:

6793996

Promoter ID:

HG_KWN:25240

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000261650, OTTHUMT00000132069, UC010CPX.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	17	18,027,106 - 18,028,857 (+)	MPROMDB

RGD ID:

7234199

Promoter ID:

EPDNEW_H22845

Type:

initiation region

Name:

ALKBH5_1

Description:

alkB homolog 5, RNA demethylase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22846

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	18,183,114 - 18,183,174	EPDNEW

RGD ID:

7234201

Promoter ID:

EPDNEW_H22846

Type:

initiation region

Name:

ALKBH5_2

Description:

alkB homolog 5, RNA demethylase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H22845

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	18,183,840 - 18,183,900	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25996	AgrOrtholog
COSMIC	ALKBH5	COSMIC
Ensembl Genes	ENSG00000091542	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000399138	ENTREZGENE
	ENST00000399138.5	UniProtKB/Swiss-Prot
	ENST00000541285.1	UniProtKB/TrEMBL
Gene3D-CATH	2.60.120.590	UniProtKB/Swiss-Prot
GTEx	ENSG00000091542	GTEx
HGNC ID	HGNC:25996	ENTREZGENE
Human Proteome Map	ALKBH5	Human Proteome Map
InterPro	AlkB-like	UniProtKB/Swiss-Prot
	AlkB-like_sf	UniProtKB/Swiss-Prot
	ALKBH5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:54890	UniProtKB/Swiss-Prot
NCBI Gene	54890	ENTREZGENE
OMIM	613303	OMIM
PANTHER	PTHR32074	UniProtKB/Swiss-Prot
	RNA DEMETHYLASE ALKBH5	UniProtKB/Swiss-Prot
	RNA DEMETHYLASE ALKBH5	UniProtKB/TrEMBL
	RNA DEMETHYLASE ALKBH5	UniProtKB/TrEMBL
Pfam	2OG-FeII_Oxy_2	UniProtKB/Swiss-Prot
PharmGKB	PA142671230	PharmGKB
Superfamily-SCOP	Clavaminate synthase-like	UniProtKB/Swiss-Prot
UniProt	ALKB5_HUMAN	UniProtKB/Swiss-Prot
	B4DVJ4	ENTREZGENE
	D3DXC6	ENTREZGENE
	K7ER58_HUMAN	UniProtKB/TrEMBL
	Q6P6C2	ENTREZGENE
	Q9NXD6	ENTREZGENE
UniProt Secondary	B4DVJ4	UniProtKB/Swiss-Prot
	D3DXC6	UniProtKB/Swiss-Prot
	Q9NXD6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-06-30	ALKBH5	alkB homolog 5, RNA demethylase		AlkB family member 5, RNA demethylase	Symbol and/or name change	5135510	APPROVED
2014-07-29	ALKBH5	AlkB family member 5, RNA demethylase		alkB, alkylation repair homolog 5 (E. coli)	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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