Advanced Search (OLGA)

Gene: ACR (acrosin) Homo sapiens

Analyze

Symbol:

ACR

Name:

acrosin

RGD ID:

736688

HGNC Page

HGNC:126

Description:

Enables D-mannose binding activity and serine-type endopeptidase activity. Involved in acrosome reaction and activation of adenylate cyclase activity. Located in nucleus. Part of protein-containing complex. Implicated in spermatogenic failure 87.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

acrosin light and heavy chain prepropeptide; preproacrosin; proacrosin; SPGF87

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Acr (acrosin prepropeptide)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Acr (acrosin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Acr (acrosin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ACR (acrosin)	NCBI	Ortholog
Canis lupus familiaris (dog):	ACR (acrosin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Acr (acrosin)	NCBI	Ortholog
Sus scrofa (pig):	ACR (acrosin)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ACR (acrosin)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Acr (acrosin)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Prss22 (serine protease 22)	HGNC	PhylomeDB
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Acr (acrosin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Acr (acrosin prepropeptide)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	XB5723326 [provisional]	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	XB5892359 [provisional:acr]	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoInspector\|PhylomeDB\|SonicParanoid)

Related Pseudogenes:

ACRP1

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	22	50,738,204 - 50,745,339 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	50,738,196 - 50,745,339 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	51,176,632 - 51,183,767 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	49,523,518 - 49,530,593 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	49,466,790 - 49,473,870	NCBI
Celera	22	35,052,700 - 35,059,775 (+)	NCBI		Celera
Cytogenetic Map	22	q13.33	ENTREZGENE
HuRef	22	34,069,063 - 34,075,048 (+)	NCBI		HuRef
CHM1_1	22	51,135,444 - 51,142,475 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	51,251,783 - 51,258,912 (+)	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

autism spectrum disorder (IAGP)

chromosome 22q13 duplication syndrome (IAGP)

intellectual disability (IAGP)

Phelan-McDermid syndrome (IAGP)

spermatogenic failure 87 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

17alpha-ethynylestradiol (ISO)

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

6-propyl-2-thiouracil (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

butanal (EXP)

flavonoids (ISO)

folic acid (ISO)

glyphosate (ISO)

ketamine (ISO)

manganese(II) chloride (ISO)

monosodium L-glutamate (ISO)

paracetamol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

resveratrol (EXP)

sodium fluoride (ISO)

testosterone (EXP)

titanium dioxide (ISO)

triclosan (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

acrosome matrix dispersal (IEA,ISO,NAS)

acrosome reaction (IBA,IMP,TAS)

activation of adenylate cyclase activity (IDA)

binding of sperm to zona pellucida (IEA,ISO)

penetration of zona pellucida (IEA,ISO)

protein catabolic process (IEA,ISO)

proteolysis (IEA)

response to steroid hormone (IEA,ISO)

single fertilization (IEA,ISS)

Cellular Component

acrosomal matrix (TAS)

acrosomal vesicle (IEA,ISO)

extracellular region (TAS)

Golgi-associated vesicle (IEA,ISO)

nucleus (HDA)

protein-containing complex (IDA)

Molecular Function

amidase activity (ISS)

copper ion binding (NAS)

D-mannose binding (IDA)

DNA binding (NAS)

fucose binding (ISS)

peptidase activity (IEA)

protease binding (TAS)

protein binding (IPI)

serine-type endopeptidase activity (IBA,IDA,IEA)

serine-type peptidase activity (IEA,ISS)

zinc ion binding (NAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autistic behavior (IAGP)

Autosomal recessive inheritance (IAGP)

Intellectual disability (IAGP)

Male infertility (IAGP)

Ruffled acrosome (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:1628652	PMID:1783391	PMID:1907596	PMID:1937464	PMID:2114285	PMID:2298447	PMID:2493394	PMID:2550339	PMID:2606479	PMID:3880736	PMID:6357995	PMID:6802470
PMID:6815104	PMID:7521127	PMID:10369396	PMID:10418103	PMID:10734459	PMID:11076863	PMID:11739644	PMID:11839395	PMID:12398221	PMID:12477932	PMID:12801583	PMID:12931362
PMID:15461802	PMID:15782160	PMID:15950651	PMID:15950652	PMID:15955892	PMID:16344560	PMID:21630459	PMID:21873635	PMID:22452365	PMID:22990118	PMID:23297503	PMID:23675907
PMID:30428044	PMID:30824926	PMID:31900314	PMID:32918875	PMID:37004249	PMID:37833433

Genomics

Comparative Map Data

ACR
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	50,738,204 - 50,745,339 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	50,738,196 - 50,745,339 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	51,176,632 - 51,183,767 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	49,523,518 - 49,530,593 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	49,466,790 - 49,473,870	NCBI
Celera	22	35,052,700 - 35,059,775 (+)	NCBI		Celera
Cytogenetic Map	22	q13.33	ENTREZGENE
HuRef	22	34,069,063 - 34,075,048 (+)	NCBI		HuRef
CHM1_1	22	51,135,444 - 51,142,475 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	22	51,251,783 - 51,258,912 (+)	NCBI		T2T-CHM13v2.0

Acr
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	89,452,549 - 89,458,790 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	89,452,529 - 89,458,788 (+)	Ensembl		GRCm39 Ensembl
GRCm38	15	89,568,326 - 89,578,853 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	89,568,326 - 89,574,585 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	89,398,757 - 89,405,015 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	89,396,129 - 89,402,195 (+)	NCBI		MGSCv36	mm8
Celera	15	91,697,705 - 91,703,952 (+)	NCBI		Celera
Cytogenetic Map	15	E3	NCBI
cM Map	15	44.96	NCBI

Acr
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	122,517,910 - 122,524,110 (+)	NCBI		GRCr8
mRatBN7.2	7	120,636,581 - 120,644,474 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	120,638,321 - 120,644,474 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	122,390,433 - 122,396,624 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	124,616,577 - 124,622,768 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	124,585,008 - 124,591,223 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	130,541,320 - 130,548,356 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	130,542,202 - 130,548,356 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	130,227,661 - 130,233,848 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	127,885,399 - 127,891,552 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	127,919,648 - 127,925,612 (+)	NCBI
Celera	7	117,109,902 - 117,116,056 (+)	NCBI		Celera
RH 3.4 Map	7	958.3	RGD
Cytogenetic Map	7	q34	NCBI

Acr
(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	NW_004955413	33,721,984 - 33,728,088 (+)	NCBI	ChiLan1.0	ChiLan1.0

ACR
(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	23	60,654,211 - 60,661,728 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	63,344,652 - 63,352,083 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	30,978,598 - 30,985,739 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	50,085,719 - 50,092,869 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	50,085,719 - 50,092,869 (+)	Ensembl	panpan1.1		panPan2

ACR
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	16,607,514 - 16,615,399 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	16,609,915 - 16,615,354 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	16,588,068 - 16,593,422 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	17,336,704 - 17,342,058 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	17,333,872 - 17,342,013 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	17,061,215 - 17,066,544 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	17,384,291 - 17,389,647 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	17,516,077 - 17,521,431 (-)	NCBI		UU_Cfam_GSD_1.0

Acr
(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_024404945	104,213 - 109,801 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936629	104,301 - 111,377 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ACR
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	30,127 - 36,005 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	30,127 - 36,005 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Pig Cytomap	5	p15	NCBI

ACR
(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	19	33,231,521 - 33,236,141 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666045	92,102,118 - 92,110,449 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Acr
(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 1.0	NW_004624752	42,847 - 49,438 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ACR
34 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1	copy number loss	See cases [RCV000050935]	Chr22:45239376..50739836 [GRCh38] Chr22:45635257..51178264 [GRCh37] Chr22:44013921..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47705262-50739836)x1	copy number loss	See cases [RCV000050848]	Chr22:47705262..50739836 [GRCh38] Chr22:48101011..51178264 [GRCh37] Chr22:46479675..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50658268-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050960]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050960]\|See cases [RCV000050960]	Chr22:50658268..50739836 [GRCh38] Chr22:51096696..51178264 [GRCh37] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50685063-50739836)x1	copy number loss	See cases [RCV000050769]	Chr22:50685063..50739836 [GRCh38] Chr22:51123491..51178264 [GRCh37] Chr22:49470357..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]\|See cases [RCV000051370]	Chr22:42138114..50739836 [GRCh38] Chr22:42513525..51178264 [GRCh37] Chr22:40843471..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	copy number loss	See cases [RCV000051371]	Chr22:42433752..50738932 [GRCh38] Chr22:42829758..51177360 [GRCh37] Chr22:41159702..49524226 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	copy number loss	See cases [RCV000051407]	Chr22:42826246..50739836 [GRCh38] Chr22:43222252..51178264 [GRCh37] Chr22:41552196..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	copy number loss	See cases [RCV000051408]	Chr22:43807366..50739836 [GRCh38] Chr22:44203246..51178264 [GRCh37] Chr22:42534579..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1	copy number loss	See cases [RCV000051409]	Chr22:43993654..50739977 [GRCh38] Chr22:44389534..51178405 [GRCh37] Chr22:42720867..49525271 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1	copy number loss	See cases [RCV000051410]	Chr22:44740175..50739836 [GRCh38] Chr22:45136055..51178264 [GRCh37] Chr22:43514719..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1	copy number loss	See cases [RCV000051411]	Chr22:45648256..50739836 [GRCh38] Chr22:46044136..51178264 [GRCh37] Chr22:44422800..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47122613-50739836)x1	copy number loss	See cases [RCV000051412]	Chr22:47122613..50739836 [GRCh38] Chr22:47518509..51178264 [GRCh37] Chr22:45897173..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1	copy number loss	See cases [RCV000051413]	Chr22:47234701..50739836 [GRCh38] Chr22:47630451..51178264 [GRCh37] Chr22:46009115..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48138038-50739836)x1	copy number loss	See cases [RCV000051440]	Chr22:48138038..50739836 [GRCh38] Chr22:48533855..51178264 [GRCh37] Chr22:46912519..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48423668-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051441]\|See cases [RCV000051441]	Chr22:48423668..50739836 [GRCh38] Chr22:48819480..51178264 [GRCh37] Chr22:47198144..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48654672-50739836)x1	copy number loss	See cases [RCV000051442]	Chr22:48654672..50739836 [GRCh38] Chr22:49050484..51178264 [GRCh37] Chr22:47436920..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49395349-50738932)x1	copy number loss	See cases [RCV000051443]	Chr22:49395349..50738932 [GRCh38] Chr22:49788999..51177360 [GRCh37] Chr22:48175003..49524226 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50620720-50745568)x1	copy number loss	See cases [RCV000051444]	Chr22:50620720..50745568 [GRCh38] Chr22:51059148..51183996 [GRCh37] Chr22:49406014..49530862 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50677679-50739836)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051445]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051445]\|See cases [RCV000051445]	Chr22:50677679..50739836 [GRCh38] Chr22:51116107..51178264 [GRCh37] Chr22:49462973..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50684863-50739977)x1	copy number loss	See cases [RCV000051446]	Chr22:50684863..50739977 [GRCh38] Chr22:51123291..51178405 [GRCh37] Chr22:49470157..49525271 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1	copy number loss	See cases [RCV000051098]	Chr22:46065705..50739836 [GRCh38] Chr22:46461585..51178264 [GRCh37] Chr22:44840249..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	copy number gain	See cases [RCV000051687]	Chr22:42653747..50739836 [GRCh38] Chr22:43049753..51178264 [GRCh37] Chr22:41379697..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]\|See cases [RCV000051688]	Chr22:44700812..50739836 [GRCh38] Chr22:45096692..51178264 [GRCh37] Chr22:43475356..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3	copy number gain	See cases [RCV000051689]	Chr22:44811200..50739836 [GRCh38] Chr22:45207080..51178264 [GRCh37] Chr22:43585744..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50658268-50739836)x1	copy number loss	See cases [RCV000050960]	Chr22:50658268..50739836 [GRCh38] Chr22:51096696..51178264 [GRCh37] Chr22:49443562..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49378128-50739836)x1	copy number loss	See cases [RCV000133859]	Chr22:49378128..50739836 [GRCh38] Chr22:49774048..51178264 [GRCh37] Chr22:48160052..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1	copy number loss	See cases [RCV000133865]	Chr22:44606363..50739836 [GRCh38] Chr22:45002243..51178264 [GRCh37] Chr22:43380907..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49315518-50739836)x1	copy number loss	See cases [RCV000133707]	Chr22:49315518..50739836 [GRCh38] Chr22:49711443..51178264 [GRCh37] Chr22:48097447..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49504768-50780581)x1	copy number loss	See cases [RCV000135691]	Chr22:49504768..50780581 [GRCh38] Chr22:49898417..51203353 [GRCh37] Chr22:48284421..49565875 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50658268-50739836)x3	copy number gain	See cases [RCV000135510]	Chr22:50658268..50739836 [GRCh38] Chr22:51096696..51178264 [GRCh37] Chr22:49443562..49525130 [NCBI36] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	copy number loss	See cases [RCV000135444]	Chr22:43902561..50739836 [GRCh38] Chr22:44298441..51178264 [GRCh37] Chr22:42629774..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46919818-50739836)x1	copy number loss	See cases [RCV000135615]	Chr22:46919818..50739836 [GRCh38] Chr22:47315714..51178264 [GRCh37] Chr22:45694378..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3	copy number gain	See cases [RCV000136573]	Chr22:44797239..50739836 [GRCh38] Chr22:45193119..51178264 [GRCh37] Chr22:43571783..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50274967-50739836)x3	copy number gain	See cases [RCV000136874]	Chr22:50274967..50739836 [GRCh38] Chr22:50713396..51178264 [GRCh37] Chr22:49055523..49525130 [NCBI36] Chr22:22q13.33	benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	copy number loss	See cases [RCV000136921]	Chr22:41871143..50739836 [GRCh38] Chr22:42267147..51178264 [GRCh37] Chr22:40597093..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48614336-50739836)x1	copy number loss	See cases [RCV000136941]	Chr22:48614336..50739836 [GRCh38] Chr22:49010148..51178264 [GRCh37] Chr22:47396711..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	copy number gain	See cases [RCV000137136]	Chr22:42710276..50739836 [GRCh38] Chr22:43106282..51178264 [GRCh37] Chr22:41436226..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1	copy number loss	See cases [RCV000136894]	Chr22:44764289..50739836 [GRCh38] Chr22:45160169..51178264 [GRCh37] Chr22:43538833..49525130 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50725197-50755252)x3	copy number gain	See cases [RCV000137527]	Chr22:50725197..50755252 [GRCh38] Chr22:51163625..51193680 [GRCh37] Chr22:49510491..49540546 [NCBI36] Chr22:22q13.33	conflicting data from submitters
GRCh38/hg38 22q13.32-13.33(chr22:48500344-50780581)x1	copy number loss	See cases [RCV000137377]	Chr22:48500344..50780581 [GRCh38] Chr22:48896156..51203353 [GRCh37] Chr22:47274820..49565875 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50685063-50755252)x3	copy number gain	See cases [RCV000138011]	Chr22:50685063..50755252 [GRCh38] Chr22:51123491..51193680 [GRCh37] Chr22:49470357..49540546 [NCBI36] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.33(chr22:50694375-50780581)x1	copy number loss	See cases [RCV000138162]	Chr22:50694375..50780581 [GRCh38] Chr22:51132803..51203353 [GRCh37] Chr22:49479669..49565875 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50149563-50780522)x1	copy number loss	See cases [RCV000140089]	Chr22:50149563..50780522 [GRCh38] Chr22:50587992..51218950 [GRCh37] Chr22:48930119..49565816 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50642219-50780522)x3	copy number gain	See cases [RCV000139866]	Chr22:50642219..50780522 [GRCh38] Chr22:51080647..51218950 [GRCh37] Chr22:49427513..49565816 [NCBI36] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.33(chr22:49535113-50780581)x1	copy number loss	See cases [RCV000139655]	Chr22:49535113..50780581 [GRCh38] Chr22:49928762..51203353 [GRCh37] Chr22:48314766..49565875 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	copy number loss	See cases [RCV000140901]	Chr22:43187980..50745444 [GRCh38] Chr22:43583986..51183872 [GRCh37] Chr22:41913930..49530738 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50685063-50780581)x1	copy number loss	See cases [RCV000140656]	Chr22:50685063..50780581 [GRCh38] Chr22:51123491..51203353 [GRCh37] Chr22:49470357..49565875 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46732445-50780522)x1	copy number loss	See cases [RCV000140772]	Chr22:46732445..50780522 [GRCh38] Chr22:47128342..51218950 [GRCh37] Chr22:45507006..49565816 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50689468-50759410)x1	copy number loss	See cases [RCV000141903]	Chr22:50689468..50759410 [GRCh38] Chr22:51127896..51197838 [GRCh37] Chr22:49474762..49544704 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	copy number gain	See cases [RCV000141659]	Chr22:42380961..50759410 [GRCh38] Chr22:42776967..51197838 [GRCh37] Chr22:41106911..49544704 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50485457-50759410)x1	copy number loss	See cases [RCV000142303]	Chr22:50485457..50759410 [GRCh38] Chr22:50923886..51197838 [GRCh37] Chr22:49270752..49544704 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	copy number gain	See cases [RCV000142755]	Chr22:42080077..50739836 [GRCh38] Chr22:42476081..51178264 [GRCh37] Chr22:40806027..49525130 [NCBI36] Chr22:22q13.2-13.33	pathogenic
GRCh38/hg38 22q13.32-13.33(chr22:48241375-50739836)x1	copy number loss	See cases [RCV000142589]	Chr22:48241375..50739836 [GRCh38] Chr22:48637187..51178264 [GRCh37] Chr22:47015851..49525130 [NCBI36] Chr22:22q13.32-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50560890-50739829)x3	copy number gain	See cases [RCV000143203]	Chr22:50560890..50739829 [GRCh38] Chr22:50999319..51178257 [GRCh37] Chr22:49346185..49525123 [NCBI36] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.33(chr22:50682932-50745412)x1	copy number loss	See cases [RCV000143124]	Chr22:50682932..50745412 [GRCh38] Chr22:51121360..51183840 [GRCh37] Chr22:49468226..49530706 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:49529760-50759410)x1	copy number loss	See cases [RCV000143708]	Chr22:49529760..50759410 [GRCh38] Chr22:49923409..51197838 [GRCh37] Chr22:48309413..49544704 [NCBI36] Chr22:22q13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1	copy number loss	See cases [RCV000143487]	Chr22:46361165..50759299 [GRCh38] Chr22:46757062..51197727 [GRCh37] Chr22:45135726..49544593 [NCBI36] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.33(chr22:50726947-50759410)x3	copy number gain	See cases [RCV000143504]	Chr22:50726947..50759410 [GRCh38] Chr22:51165375..51197838 [GRCh37] Chr22:49512241..49544704 [NCBI36] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.33(chr22:50685063-50739836)x1	copy number loss	See cases [RCV000148106]	Chr22:50685063..50739836 [GRCh38] Chr22:51123491..51178264 [GRCh37] Chr22:49470357..49525130 [NCBI36] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	copy number loss	Phelan-McDermid syndrome [RCV000767745]	Chr22:42416026..51181759 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759)	copy number loss	not provided [RCV000767746]	Chr22:45075720..51181759 [GRCh37] Chr22:22q13.31-13.33	pathogenic
Single allele	deletion	Autism spectrum disorder [RCV000208741]	Chr22:49033233..51193680 [GRCh37] Chr22:22q13.32-13.33	pathogenic
Single allele	deletion	Autism spectrum disorder [RCV000208718]	Chr22:51027581..51234443 [GRCh37] Chr22:22q13.33	pathogenic
Single allele	deletion	Autism spectrum disorder [RCV000208731]	Chr22:50282986..51304566 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51165380-51197725)x3	copy number gain	See cases [RCV000511334]	Chr22:51165380..51197725 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50922386-51205985)x1	copy number loss	See cases [RCV000240423]	Chr22:50922386..51205985 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51121452-51183872)x1	copy number loss	See cases [RCV000447218]	Chr22:51121452..51183872 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47187586-51237463)x1	copy number loss	See cases [RCV000446928]	Chr22:47187586..51237463 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51123491-51237463)x1	copy number loss	See cases [RCV000447374]	Chr22:51123491..51237463 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1	copy number loss	See cases [RCV000447857]	Chr22:46866460..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51182469-51220902)x3	copy number gain	See cases [RCV000447891]	Chr22:51182469..51220902 [GRCh37] Chr22:22q13.33	benign
GRCh37/hg19 22q13.33(chr22:51147983-51183871)x1	copy number loss	See cases [RCV000448047]	Chr22:51147983..51183871 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NM_001097.3(ACR):c.886A>G (p.Met296Val)	single nucleotide variant	not provided [RCV004713971]\|not specified [RCV000454981]	Chr22:50744827 [GRCh38] Chr22:51183255 [GRCh37] Chr22:22q13.33	benign
GRCh37/hg19 22q13.33(chr22:51127898-51197838)x1	copy number loss	See cases [RCV000512106]	Chr22:51127898..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	copy number loss	See cases [RCV000512121]	Chr22:43381459..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
NM_001097.3(ACR):c.566-4A>G	single nucleotide variant	not provided [RCV000948143]\|not specified [RCV000456024]	Chr22:50744057 [GRCh38] Chr22:51182485 [GRCh37] Chr22:22q13.33	benign
GRCh37/hg19 22q13.33(chr22:51121362-51197838)x1	copy number loss	See cases [RCV000510709]	Chr22:51121362..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49628164-51197838)x1	copy number loss	See cases [RCV000510342]	Chr22:49628164..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51127897-51183872)x1	copy number loss	See cases [RCV000510488]	Chr22:51127897..51183872 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1	copy number loss	See cases [RCV000510351]	Chr22:46543160..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48556939-51197838)x1	copy number loss	See cases [RCV000511340]	Chr22:48556939..51197838 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49305443-51197838)x1	copy number loss	See cases [RCV000511993]	Chr22:49305443..51197838 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1	copy number loss	See cases [RCV000511220]	Chr22:45261208..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	copy number loss	See cases [RCV000511256]	Chr22:43050743..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	copy number loss	See cases [RCV000510765]	Chr22:42441918..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	copy number loss	See cases [RCV000511015]	Chr22:43875989..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48533991-51178264)	copy number loss	Phelan-McDermid syndrome [RCV000767671]	Chr22:48533991..51178264 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50145416-51197838)x1	copy number loss	See cases [RCV000512145]	Chr22:50145416..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1	copy number loss	not provided [RCV000684522]	Chr22:46780978..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1	copy number loss	not provided [RCV000684523]	Chr22:46768838..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1	copy number loss	not provided [RCV000684524]	Chr22:46667744..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1	copy number loss	not provided [RCV000684525]	Chr22:45994305..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1	copy number loss	not provided [RCV000684526]	Chr22:44789956..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	copy number loss	not provided [RCV000684527]	Chr22:43320284..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	copy number loss	not provided [RCV000684528]	Chr22:43111156..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	copy number loss	not provided [RCV000684529]	Chr22:42955616..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51121452-51183840)x1	copy number loss	not provided [RCV000684448]	Chr22:51121452..51183840 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50190425-51183767)x1	copy number loss	not provided [RCV000684487]	Chr22:50190425..51183767 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50973975-51183840)x1	copy number loss	not provided [RCV000684461]	Chr22:50973975..51183840 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50613566-51197838)x1	copy number loss	not provided [RCV000684479]	Chr22:50613566..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50134203-51183840)x1	copy number loss	not provided [RCV000684488]	Chr22:50134203..51183840 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1	copy number loss	not provided [RCV000741989]	Chr22:42151555..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47782346-51243435)x1	copy number loss	not provided [RCV000742061]	Chr22:47782346..51243435 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48125251-51211392)x1	copy number loss	not provided [RCV000742062]	Chr22:48125251..51211392 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:49313561-51195728)x1	copy number loss	not provided [RCV000742071]	Chr22:49313561..51195728 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50627704-51211392)x1	copy number loss	not provided [RCV000742097]	Chr22:50627704..51211392 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51024308-51243435)x1	copy number loss	not provided [RCV000742123]	Chr22:51024308..51243435 [GRCh37] Chr22:22q13.33	likely pathogenic
GRCh37/hg19 22q13.33(chr22:51123505-51211392)x1	copy number loss	not provided [RCV000742130]	Chr22:51123505..51211392 [GRCh37] Chr22:22q13.33	benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
NM_001097.3(ACR):c.71C>T (p.Thr24Met)	single nucleotide variant	not provided [RCV000901341]	Chr22:50738306 [GRCh38] Chr22:51176734 [GRCh37] Chr22:22q13.33	benign
GRCh37/hg19 22q13.31-13.33(chr22:48223839-51197725)x1	copy number loss	not provided [RCV001007506]	Chr22:48223839..51197725 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_001097.3(ACR):c.1A>G (p.Met1Val)	single nucleotide variant	not provided [RCV000906199]	Chr22:50738236 [GRCh38] Chr22:51176664 [GRCh37] Chr22:22q13.33	benign
NM_001097.3(ACR):c.66C>T (p.Asn22=)	single nucleotide variant	not provided [RCV000915794]	Chr22:50738301 [GRCh38] Chr22:51176729 [GRCh37] Chr22:22q13.33	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3	copy number gain	not provided [RCV000849204]	Chr22:46432744..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48528536-51183840)x1	copy number loss	not provided [RCV001007508]	Chr22:48528536..51183840 [GRCh37] Chr22:22q13.32-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47740201-51197838)x3	copy number gain	not provided [RCV000846659]	Chr22:47740201..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_001097.3(ACR):c.1189G>C (p.Gly397Arg)	single nucleotide variant	not specified [RCV004302968]	Chr22:50745130 [GRCh38] Chr22:51183558 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.1013G>A (p.Arg338Gln)	single nucleotide variant	not specified [RCV004301557]	Chr22:50744954 [GRCh38] Chr22:51183382 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	copy number gain	not provided [RCV002468433]	Chr22:43436847..51188164 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51098981-51183767)x1	copy number loss	not provided [RCV002472524]	Chr22:51098981..51183767 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1	copy number loss	not provided [RCV002473520]	Chr22:45889148..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49648935-51197838)x3	copy number gain	not provided [RCV001007194]	Chr22:49648935..51197838 [GRCh37] Chr22:22q13.33	pathogenic
NC_000022.11:g.46467175_50759338del	deletion	Phelan-McDermid syndrome [RCV001254367]	Chr22:46467175..50759338 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.47447433_50806138del	deletion	Phelan-McDermid syndrome [RCV001254362]	Chr22:47447433..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.48500337_50739785del	deletion	Phelan-McDermid syndrome [RCV001254365]	Chr22:48500337..50739785 [GRCh38] Chr22:22q13.32-13.33	pathogenic
NC_000022.11:g.47823120_50759410del	deletion	Phelan-McDermid syndrome [RCV001254355]	Chr22:47823120..50759410 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.46489644_50806138del	deletion	Phelan-McDermid syndrome [RCV001254363]	Chr22:46489644..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.43802117_50806121del	deletion	Phelan-McDermid syndrome [RCV001254364]	Chr22:43802117..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.44702479_50806138del	deletion	Phelan-McDermid syndrome [RCV001254370]	Chr22:44702479..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.44245760_50806121del	deletion	Phelan-McDermid syndrome [RCV001254369]	Chr22:44245760..50806121 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.47513236_50806138del	deletion	Phelan-McDermid syndrome [RCV001254357]	Chr22:47513236..50806138 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.48500344_50780581del	deletion	Phelan-McDermid syndrome [RCV001254361]	Chr22:48500344..50780581 [GRCh38] Chr22:22q13.32-13.33	pathogenic
NC_000022.11:g.49181210_50759297del	deletion	Phelan-McDermid syndrome [RCV001254368]	Chr22:49181210..50759297 [GRCh38] Chr22:22q13.33	pathogenic
NC_000022.11:g.43032129_50739836del	deletion	Phelan-McDermid syndrome [RCV001254356]	Chr22:43032129..50739836 [GRCh38] Chr22:22q13.2-13.33	pathogenic
Single allele	deletion	Intellectual disability [RCV001261860]	Chr22:51121670..51227460 [GRCh37] Chr22:22q13.33	pathogenic
NC_000022.11:g.46269281_50740560del	deletion	Phelan-McDermid syndrome [RCV001254358]	Chr22:46269281..50740560 [GRCh38] Chr22:22q13.31-13.33	pathogenic
NC_000022.11:g.47705262_50739836del	deletion	Phelan-McDermid syndrome [RCV001254360]	Chr22:47705262..50739836 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51157524-51183840)x1	copy number loss	not provided [RCV001258790]	Chr22:51157524..51183840 [GRCh37] Chr22:22q13.33	likely pathogenic
GRCh37/hg19 22q13.33(chr22:50791825-51181078)x1	copy number loss	not provided [RCV001258791]	Chr22:50791825..51181078 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51122307-51224091)x1	copy number loss	not provided [RCV001258792]	Chr22:51122307..51224091 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51121452-51197838)	copy number loss	Phelan-McDermid syndrome [RCV002280636]	Chr22:51121452..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
Single allele	duplication	Chromosome 22q13 duplication syndrome [RCV002280361]	Chr22:49883237..50740457 [GRCh38] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51123491-51219009)	copy number loss	Autism [RCV001352662]	Chr22:51123491..51219009 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1	copy number loss	not provided [RCV001537924]	Chr22:50099570..51187115 [GRCh37] Chr22:22q13.33	pathogenic
Single allele	deletion	Intellectual disability [RCV001293376]	Chr22:42333802..51195728 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47554026-51186813)x1	copy number loss	not provided [RCV001795845]	Chr22:47554026..51186813 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50984491-51179298)x1	copy number loss	not provided [RCV001795539]	Chr22:50984491..51179298 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	copy number loss	Phelan-McDermid syndrome [RCV001801178]	Chr22:42321321..51244066 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	copy number loss	not specified [RCV002052757]	Chr22:42972719..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49729747-51197838)	copy number loss	not specified [RCV002052764]	Chr22:49729747..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51127903-51197838)	copy number loss	not specified [RCV002052767]	Chr22:51127903..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:47567951-51183840)x1	copy number loss	not provided [RCV001832912]	Chr22:47567951..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51147983-51183871)	copy number loss	not specified [RCV002052768]	Chr22:51147983..51183871 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51121452-51183872)	copy number loss	not specified [RCV002052766]	Chr22:51121452..51183872 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49602454-51183869)	copy number loss	Phelan-McDermid syndrome [RCV002280637]	Chr22:49602454..51183869 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1	copy number loss	not provided [RCV002472642]	Chr22:45977448..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51121376-51183840)x1	copy number loss	not provided [RCV002472655]	Chr22:51121376..51183840 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	copy number loss	not provided [RCV002472623]	Chr22:44178749..51183840 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1	copy number loss	not provided [RCV002472654]	Chr22:45977415..51183840 [GRCh37] Chr22:22q13.31-13.33	pathogenic
NM_001097.3(ACR):c.817G>A (p.Gly273Arg)	single nucleotide variant	not specified [RCV004333130]	Chr22:50744758 [GRCh38] Chr22:51183186 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.191C>T (p.Thr64Met)	single nucleotide variant	not specified [RCV004200806]	Chr22:50739384 [GRCh38] Chr22:51177812 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.1043C>T (p.Pro348Leu)	single nucleotide variant	not specified [RCV004082196]	Chr22:50744984 [GRCh38] Chr22:51183412 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.995C>G (p.Pro332Arg)	single nucleotide variant	not specified [RCV004170548]	Chr22:50744936 [GRCh38] Chr22:51183364 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.883C>T (p.Arg295Cys)	single nucleotide variant	not specified [RCV004215906]	Chr22:50744824 [GRCh38] Chr22:51183252 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.599G>C (p.Arg200Pro)	single nucleotide variant	not specified [RCV004135329]	Chr22:50744094 [GRCh38] Chr22:51182522 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.1015C>A (p.Pro339Thr)	single nucleotide variant	not specified [RCV004155407]	Chr22:50744956 [GRCh38] Chr22:51183384 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.142G>T (p.Ala48Ser)	single nucleotide variant	not specified [RCV004332513]	Chr22:50739335 [GRCh38] Chr22:51177763 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1	copy number loss	Phelan-McDermid syndrome [RCV003327722]	Chr22:49757859..50740457 [GRCh38] Chr22:22q13.33	pathogenic
NM_001097.3(ACR):c.167G>A (p.Trp56Ter)	single nucleotide variant	Spermatogenic failure 87 [RCV003325421]	Chr22:50739360 [GRCh38] Chr22:51177788 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50014114-51244066)x1	copy number loss	Chromosome 22q13 duplication syndrome [RCV003329540]	Chr22:50014114..51244066 [GRCh37] Chr22:22q13.33	pathogenic
NM_001097.3(ACR):c.884G>A (p.Arg295His)	single nucleotide variant	not specified [RCV004339302]	Chr22:50744825 [GRCh38] Chr22:51183253 [GRCh37] Chr22:22q13.33	likely benign
NM_001097.3(ACR):c.1217A>G (p.His406Arg)	single nucleotide variant	not specified [RCV004343162]	Chr22:50745158 [GRCh38] Chr22:51183586 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.130G>A (p.Val44Ile)	single nucleotide variant	not specified [RCV004340998]	Chr22:50739323 [GRCh38] Chr22:51177751 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	copy number loss	not provided [RCV003457366]	Chr22:43820992..51218654 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3	copy number gain	not provided [RCV003485247]	Chr22:45657164..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51073380-51197838)x1	copy number loss	not provided [RCV003483401]	Chr22:51073380..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1	copy number loss	not provided [RCV003483399]	Chr22:45611226..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:50974309-51197838)x3	copy number gain	not specified [RCV003986193]	Chr22:50974309..51197838 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.33(chr22:51044719-51183834)x1	copy number loss	not specified [RCV003986173]	Chr22:51044719..51183834 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51121362-51197838)x1	copy number loss	not specified [RCV003986177]	Chr22:51121362..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:48218869-51197838)x1	copy number loss	not specified [RCV003986172]	Chr22:48218869..51197838 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329)	copy number loss	Phelan-McDermid syndrome [RCV003986080]	Chr22:44549957..50789329 [GRCh38] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	copy number loss	not specified [RCV003986171]	Chr22:44502872..51183871 [GRCh37] Chr22:22q13.31-13.33	pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	copy number loss	not specified [RCV003986178]	Chr22:44034281..51197838 [GRCh37] Chr22:22q13.2-13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49434634-51197838)x1	copy number loss	not specified [RCV003986170]	Chr22:49434634..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51122307-51197838)x1	copy number loss	not specified [RCV003986182]	Chr22:51122307..51197838 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	copy number loss	not provided [RCV003885499]	Chr22:49479980..51304566 [GRCh37] Chr22:22q13.33	pathogenic
GRCh37/hg19 22q13.33(chr22:51123013-51220722)x1	copy number loss	not provided [RCV003885500]	Chr22:51123013..51220722 [GRCh37] Chr22:22q13.33	pathogenic
NM_001097.3(ACR):c.998G>A (p.Arg333Gln)	single nucleotide variant	not specified [RCV004427540]	Chr22:50744939 [GRCh38] Chr22:51183367 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.926C>T (p.Pro309Leu)	single nucleotide variant	not specified [RCV004427522]	Chr22:50744867 [GRCh38] Chr22:51183295 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	copy number loss	not provided [RCV003885498]	Chr22:49103529..51220722 [GRCh37] Chr22:22q13.32-13.33	pathogenic
NM_001097.3(ACR):c.1259C>T (p.Thr420Ile)	single nucleotide variant	not specified [RCV004427494]	Chr22:50745200 [GRCh38] Chr22:51183628 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.310G>A (p.Gly104Arg)	single nucleotide variant	not specified [RCV004427502]	Chr22:50739722 [GRCh38] Chr22:51178150 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.676G>A (p.Ala226Thr)	single nucleotide variant	not specified [RCV004427505]	Chr22:50744171 [GRCh38] Chr22:51182599 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.802C>T (p.Arg268Cys)	single nucleotide variant	not specified [RCV004427508]	Chr22:50744743 [GRCh38] Chr22:51183171 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.914C>T (p.Pro305Leu)	single nucleotide variant	not specified [RCV004427519]	Chr22:50744855 [GRCh38] Chr22:51183283 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.932C>T (p.Pro311Leu)	single nucleotide variant	not specified [RCV004427523]	Chr22:50744873 [GRCh38] Chr22:51183301 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.988C>T (p.Pro330Ser)	single nucleotide variant	not specified [RCV004427527]	Chr22:50744929 [GRCh38] Chr22:51183357 [GRCh37] Chr22:22q13.33	uncertain significance
GRCh37/hg19 22q13.33(chr22:51160350-51304566)x2	copy number loss	not provided [RCV004577454]	Chr22:51160350..51304566 [GRCh37] Chr22:22q13.33	pathogenic
NM_001097.3(ACR):c.791T>C (p.Val264Ala)	single nucleotide variant	not specified [RCV004606006]	Chr22:50744732 [GRCh38] Chr22:51183160 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.284A>G (p.Asn95Ser)	single nucleotide variant	not specified [RCV004607239]	Chr22:50739696 [GRCh38] Chr22:51178124 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.896C>T (p.Ser299Leu)	single nucleotide variant	not specified [RCV004606014]	Chr22:50744837 [GRCh38] Chr22:51183265 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.704C>A (p.Thr235Asn)	single nucleotide variant	not specified [RCV004606020]	Chr22:50744199 [GRCh38] Chr22:51182627 [GRCh37] Chr22:22q13.33	uncertain significance
NM_001097.3(ACR):c.599G>A (p.Arg200His)	single nucleotide variant	not specified [RCV004607237]	Chr22:50744094 [GRCh38] Chr22:51182522 [GRCh37] Chr22:22q13.33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	964
Count of miRNA genes:	606
Interacting mature miRNAs:	665
Transcripts:	ENST00000216139, ENST00000527761, ENST00000529621, ENST00000533930
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

RH38881

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	114,425,046 - 114,425,171	UniSTS	GRCh37
GRCh37	22	51,183,520 - 51,183,645	UniSTS	GRCh37
Build 36	2	114,141,516 - 114,141,641	RGD	NCBI36
Celera	22	35,059,568 - 35,059,693	RGD
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	2	q14.1	UniSTS
HuRef	2	106,741,046 - 106,741,171	UniSTS

GDB:190905

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	114,425,584 - 114,425,800	UniSTS	GRCh37
GRCh37	22	51,182,891 - 51,183,107	UniSTS	GRCh37
Build 36	2	114,142,054 - 114,142,270	RGD	NCBI36
Celera	22	35,058,939 - 35,059,155	RGD
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	2	q14.1	UniSTS
HuRef	2	106,734,113 - 106,734,329	UniSTS

RH69180

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	51,176,742 - 51,176,870	UniSTS	GRCh37
Build 36	22	49,523,608 - 49,523,736	RGD	NCBI36
Celera	22	35,052,790 - 35,052,918	RGD
Cytogenetic Map	22	q13.33	UniSTS
HuRef	22	34,069,153 - 34,069,281	UniSTS
GeneMap99-GB4 RH Map	22	175.68	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
1204	2366	2778	2187	4793	1684	2227	1	602	838	443	2182	6041	5298	30	3652	806	1673	1514	169

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001097	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC000036	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC002056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH002553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310316	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB054152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FO681507	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S40014	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X54017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X54018	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X54019	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X54020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X66188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y00970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000216139 ⟹ ENSP00000216139

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	50,738,204 - 50,745,339 (+)	Ensembl

Ensembl Acc Id:

ENST00000527761

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	50,744,144 - 50,744,910 (+)	Ensembl

Ensembl Acc Id:

ENST00000529621 ⟹ ENSP00000435120

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	50,738,230 - 50,740,757 (+)	Ensembl

Ensembl Acc Id:

ENST00000533930

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	50,738,196 - 50,740,359 (+)	Ensembl

RefSeq Acc Id:

NM_001097 ⟹ NP_001088

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	50,738,204 - 50,745,339 (+)	NCBI
GRCh37	22	51,176,652 - 51,183,727 (+)	ENTREZGENE
Build 36	22	49,523,518 - 49,530,593 (+)	NCBI Archive
HuRef	22	34,069,063 - 34,075,048 (+)	NCBI
CHM1_1	22	51,135,444 - 51,142,475 (+)	NCBI
T2T-CHM13v2.0	22	51,251,783 - 51,258,912 (+)	NCBI

Sequence:

show sequence

ACTAGGCTTGCAGGCCAGGCAGTGCCAGGAGTATGGTTGAGATGCTACCAACTGCCATTCTGCT
GGTCTTGGCAGTGTCCGTGGTTGCTAAAGATAACGCCACGTGTGATGGCCCCTGTGGGTTACGG
TTCAGGCAAAACCCACAGGGTGGTGTCCGCATCGTCGGCGGGAAGGCTGCACAGCATGGGGCCT
GGCCCTGGATGGTCAGCCTCCAGATCTTCACGTACAACAGCCACAGGTACCACACATGTGGAGG
CAGCTTGCTGAATTCACGATGGGTGCTCACTGCTGCTCACTGCTTCGTCGGCAAAAATAATGTG
CATGACTGGAGACTGGTTTTCGGAGCAAAGGAAATTACATATGGGAACAATAAACCAGTAAAGG
CGCCTCTGCAAGAGAGATATGTGGAGAAAATCATCATTCATGAAAAATACAACTCTGCGACAGA
GGGAAATGACATTGCCCTCGTGGAGATCACCCCTCCCATTTCGTGTGGGCGCTTCATTGGGCCG
GGCTGCCTGCCCCACTTTAAGGCAGGCCTCCCCAGAGGCTCCCAGAGCTGCTGGGTGGCCGGCT
GGGGATATATAGAAGAGAAAGCCCCCAGGCCATCATCTATACTGATGGAGGCACGTGTGGATCT
CATCGACCTGGACTTGTGTAACTCGACCCAGTGGTACAATGGGCGCGTTCAGCCAACCAATGTG
TGCGCGGGGTATCCTGTAGGCAAGATCGACACCTGCCAGGGAGACAGCGGCGGGCCTCTCATGT
GCAAAGACAGCAAGGAAAGCGCCTATGTGGTCGTGGGAATCACAAGCTGGGGGGTAGGCTGTGC
CCGTGCCAAGCGCCCCGGAATCTACACGGCCACCTGGCCCTATCTGAACTGGATCGCCTCCAAG
ATTGGTTCTAACGCTTTGCGTATGATTCAATCGGCCACCCCTCCACCTCCCACCACTCGACCGC
CCCCGATTCGACCCCCCTTCTCCCACCCTATCTCTGCTCACCTTCCTTGGTATTTCCAACCGCC
CCCTCGACCACTTCCACCCCGACCACCGGCAGCCCAGCCCCGACCCCCACCTTCACCCCCGCCC
CCACCCCCACCTCCAGCCTCACCTTTACCCCCACCCCCACCCCCACCCCCACCTACACCCTCAT
CTACCACAAAACTTCCCCAAGGACTTTCTTTTGCCAAGCGCCTACAGCAGCTCATAGAGGTCTT
GAAGGGGAAGACCTATTCCGACGGAAAGAACCATTATGACATGGAGACCACAGAGCTCCCAGAA
CTGACCTCGACCTCCTGATCTGACCTGGTTCTCAACAGACCCAGTGAGCCCTTCACTCCTGAGA
AAAAGGAAAGATGAAATAAATAAATAAACATATATATATAGATATACACACACACATATCTGTA
TGTATACATGCATATACATCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001088	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA51572	(Get FASTA)	NCBI Sequence Viewer
	AAA51573	(Get FASTA)	NCBI Sequence Viewer
	AAA51574	(Get FASTA)	NCBI Sequence Viewer
	AAA51575	(Get FASTA)	NCBI Sequence Viewer
	AAD13819	(Get FASTA)	NCBI Sequence Viewer
	CAA37964	(Get FASTA)	NCBI Sequence Viewer
	CAA46956	(Get FASTA)	NCBI Sequence Viewer
	CAA68784	(Get FASTA)	NCBI Sequence Viewer
	CAG30252	(Get FASTA)	NCBI Sequence Viewer
	EAW73587	(Get FASTA)	NCBI Sequence Viewer
	EAW73588	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000216139
	ENSP00000216139.5
	ENSP00000435120.1
	ENSP00000516837.1
	ENSP00000516838.1
GenBank Protein	P10323	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001088 ⟸ NM_001097
- Peptide Label:	precursor
- UniProtKB:	Q6ICK2 (UniProtKB/Swiss-Prot), P10323 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MVEMLPTAILLVLAVSVVAKDNATCDGPCGLRFRQNPQGGVRIVGGKAAQHGAWPWMVSLQIFT YNSHRYHTCGGSLLNSRWVLTAAHCFVGKNNVHDWRLVFGAKEITYGNNKPVKAPLQERYVEKI IIHEKYNSATEGNDIALVEITPPISCGRFIGPGCLPHFKAGLPRGSQSCWVAGWGYIEEKAPRP SSILMEARVDLIDLDLCNSTQWYNGRVQPTNVCAGYPVGKIDTCQGDSGGPLMCKDSKESAYVV VGITSWGVGCARAKRPGIYTATWPYLNWIASKIGSNALRMIQSATPPPPTTRPPPIRPPFSHPI SAHLPWYFQPPPRPLPPRPPAAQPRPPPSPPPPPPPPASPLPPPPPPPPPTPSSTTKLPQGLSF AKRLQQLIEVLKGKTYSDGKNHYDMETTELPELTSTS hide sequence

Ensembl Acc Id:

ENSP00000216139 ⟸ ENST00000216139

Ensembl Acc Id:

ENSP00000435120 ⟸ ENST00000529621

Protein Domains

Peptidase S1

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P10323-F1-model_v2	AlphaFold	P10323	1-421	view protein structure

Promoters

RGD ID:

13604600

Promoter ID:

EPDNEW_H28484

Type:

initiation region

Name:

ACR_1

Description:

acrosin

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	50,738,204 - 50,738,264	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:126	AgrOrtholog
COSMIC	ACR	COSMIC
Ensembl Genes	ENSG00000100312	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000291368	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000216139	ENTREZGENE
	ENST00000216139.10	UniProtKB/Swiss-Prot
	ENST00000529621.1	UniProtKB/TrEMBL
	ENST00000707314.1	UniProtKB/Swiss-Prot
	ENST00000707315.1	UniProtKB/TrEMBL
Gene3D-CATH	2.40.10.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000100312	GTEx
	ENSG00000291368	GTEx
HGNC ID	HGNC:126	ENTREZGENE
Human Proteome Map	ACR	Human Proteome Map
InterPro	Pept_S1A_acrosin	UniProtKB/Swiss-Prot
	Peptidase_S1_PA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Peptidase_S1_PA_chymotrypsin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Peptidase_S1A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Trypsin_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRYPSIN_HIS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRYPSIN_SER	UniProtKB/Swiss-Prot
KEGG Report	hsa:49	UniProtKB/Swiss-Prot
NCBI Gene	49	ENTREZGENE
OMIM	102480	OMIM
PANTHER	ACROSIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ACROSIN-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Trypsin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24451	PharmGKB
PIRSF	Acrosin	UniProtKB/Swiss-Prot
PRINTS	CHYMOTRYPSIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	TRYPSIN_DOM	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRYPSIN_HIS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TRYPSIN_SER	UniProtKB/Swiss-Prot
RNAcentral	URS0002618662	RNACentral
SMART	Tryp_SPc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50494	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	ACRO_HUMAN	UniProtKB/Swiss-Prot
	E9PLV5_HUMAN	UniProtKB/TrEMBL
	P10323	ENTREZGENE
	Q6ICK2	ENTREZGENE
UniProt Secondary	Q6ICK2	UniProtKB/Swiss-Prot

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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar