YDJC (YdjC chitooligosaccharide deacetylase homolog)

Gene: YDJC (YdjC chitooligosaccharide deacetylase homolog) Homo sapiens

Analyze

Symbol:

YDJC

Name:

YdjC chitooligosaccharide deacetylase homolog

RGD ID:

1604990

HGNC Page

HGNC:27158

Description:

Predicted to enable deacetylase activity and magnesium ion binding activity. Predicted to be involved in carbohydrate metabolic process and diacetylchitobiose catabolic process.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

carbohydrate deacetylase; MGC133160; UPF0249 protein ydjC homolog; YdjC homolog; YdjC homolog (bacterial)

RGD Orthologs

Alliance Genes

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	22	21,628,089 - 21,630,022 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	21,628,089 - 21,630,064 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	21,982,378 - 21,984,311 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	20,312,378 - 20,314,340 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	5,799,918 - 5,801,880 (-)	NCBI		Celera
Cytogenetic Map	22	q11.21	NCBI
HuRef	22	4,940,252 - 4,942,214 (-)	NCBI		HuRef
CHM1_1	22	21,982,576 - 21,984,538 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	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

chromosome 22q11.2 deletion syndrome, distal (IAGP)

DiGeorge syndrome (IAGP)

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

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

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

2-palmitoylglycerol (EXP)

3-chloropropane-1,2-diol (ISO)

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

4,4'-sulfonyldiphenol (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (EXP,ISO)

all-trans-retinoic acid (EXP)

antirheumatic drug (EXP)

arsenite(3-) (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

cadmium dichloride (ISO)

copper atom (EXP)

copper(0) (EXP)

cyclosporin A (EXP)

decabromodiphenyl ether (ISO)

dexamethasone (EXP)

dibutyl phthalate (ISO)

diuron (EXP)

doxorubicin (EXP)

fenvalerate (ISO)

folic acid (ISO)

furan (ISO)

indometacin (EXP)

methotrexate (EXP)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (ISO)

sodium arsenite (EXP)

Soman (ISO)

sunitinib (EXP)

temozolomide (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trimellitic anhydride (ISO)

trovafloxacin (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

carbohydrate metabolic process (IEA)

Molecular Function

deacetylase activity (IBA)

hydrolase activity (IEA)

magnesium ion binding (ISS)

metal ion binding (IEA)

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:12477932	PMID:18177738	PMID:20190752	PMID:21102463	PMID:21383967	PMID:21873635	PMID:22658674	PMID:23128233	PMID:23222517	PMID:24390342	PMID:26186194	PMID:28514442
PMID:31485224	PMID:33961781

Genomics

Comparative Map Data

YDJC
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	21,628,089 - 21,630,022 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	21,628,089 - 21,630,064 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	21,982,378 - 21,984,311 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	20,312,378 - 20,314,340 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	22	5,799,918 - 5,801,880 (-)	NCBI		Celera
Cytogenetic Map	22	q11.21	NCBI
HuRef	22	4,940,252 - 4,942,214 (-)	NCBI		HuRef
CHM1_1	22	21,982,576 - 21,984,538 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	NCBI		T2T-CHM13v2.0

Ydjc
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	16	16,964,813 - 16,966,721 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	16	16,962,485 - 16,978,565 (+)	Ensembl		GRCm39 Ensembl
GRCm38	16	17,146,949 - 17,148,857 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	16	17,144,621 - 17,160,701 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	16	17,147,072 - 17,148,936 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	16	17,060,542 - 17,062,406 (+)	NCBI		MGSCv36	mm8
Celera	16	17,719,757 - 17,721,621 (+)	NCBI		Celera
Cytogenetic Map	16	A3	NCBI
cM Map	16	10.63	NCBI

Ydjc
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	11	97,338,529 - 97,348,909 (-)	NCBI		GRCr8
mRatBN7.2	11	83,832,177 - 83,844,691 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	11	83,841,306 - 83,846,336 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	11	92,571,489 - 92,573,318 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	11	85,232,631 - 85,234,460 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	11	84,286,210 - 84,288,039 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	11	88,089,142 - 88,094,254 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	11	88,090,921 - 88,093,516 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	11	91,135,410 - 91,146,385 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	11	85,845,500 - 85,848,083 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	11	85,886,097 - 85,888,680 (-)	NCBI
Celera	11	82,603,512 - 82,605,347 (-)	NCBI		Celera
Cytogenetic Map	11	q23	NCBI

Ydjc
(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_004955442	17,482,020 - 17,484,853 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955442	17,481,581 - 17,483,858 (+)	NCBI	ChiLan1.0	ChiLan1.0

YDJC
(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	31,173,298 - 31,175,877 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	33,722,025 - 33,724,124 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	3,750,719 - 3,752,990 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	20,233,969 - 20,236,172 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	20,233,969 - 20,236,176 (-)	Ensembl	panpan1.1		panPan2

YDJC
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	26	30,904,103 - 30,906,015 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	26	30,904,718 - 30,905,951 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	26	30,861,431 - 30,863,326 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	26	32,309,921 - 32,311,816 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	26	32,310,196 - 32,311,744 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	26	30,359,251 - 30,361,153 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	26	29,983,002 - 29,984,885 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	26	31,072,890 - 31,074,806 (-)	NCBI		UU_Cfam_GSD_1.0

Ydjc
(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_024405118	140,687,030 - 140,688,920 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936619	2,065,193 - 2,066,667 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936619	2,065,118 - 2,067,032 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

YDJC
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	50,260,788 - 50,262,550 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	50,260,813 - 50,262,553 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	53,711,336 - 53,713,076 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

YDJC
(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	4,479,690 - 4,481,915 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	4,479,985 - 4,481,586 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666085	2,517,263 - 2,519,349 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ydjc
(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_004624747	1,181,956 - 1,183,485 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624747	1,181,617 - 1,183,581 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in YDJC
21 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3	copy number gain	See cases [RCV000050932]	Chr22:20671366..22046408 [GRCh38] Chr22:21025654..22400806 [GRCh37] Chr22:19355654..20730806 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	copy number gain	See cases [RCV000050768]	Chr22:18178957..31821193 [GRCh38] Chr22:18661724..32217179 [GRCh37] Chr22:17041724..30547179 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1	copy number loss	See cases [RCV000051017]	Chr22:21151069..22562663 [GRCh38] Chr22:21505358..22905068 [GRCh37] Chr22:19835358..21235068 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1	copy number loss	See cases [RCV000051147]	Chr22:21603122..22562663 [GRCh38] Chr22:21957411..22905068 [GRCh37] Chr22:20287411..21235068 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3	copy number gain	See cases [RCV000051961]	Chr22:20668552..22358488 [GRCh38] Chr22:21022840..22712836 [GRCh37] Chr22:19352840..21042836 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1	copy number loss	See cases [RCV000053082]	Chr22:21454661..22562663 [GRCh38] Chr22:21808950..22905068 [GRCh37] Chr22:20138950..21235068 [NCBI36] Chr22:22q11.21-11.22	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]\|See cases [RCV000053084]	Chr22:21454661..24197852 [GRCh38] Chr22:21808950..24593820 [GRCh37] Chr22:20138950..22923820 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]\|See cases [RCV000053085]	Chr22:21454661..23301036 [GRCh38] Chr22:21808950..23643223 [GRCh37] Chr22:20138950..21973223 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1	copy number loss	See cases [RCV000053087]	Chr22:21457690..24220231 [GRCh38] Chr22:21811979..24616199 [GRCh37] Chr22:20141979..22946199 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1	copy number loss	See cases [RCV000053090]	Chr22:21562911..24307688 [GRCh38] Chr22:21917200..24703656 [GRCh37] Chr22:20247200..23033656 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3	copy number gain	See cases [RCV000053104]	Chr22:16916608..24358936 [GRCh38] Chr22:17397498..24754904 [GRCh37] Chr22:15777498..23084904 [NCBI36] Chr22:22q11.1-11.23	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1	copy number loss	See cases [RCV000053107]	Chr22:21623411..22617259 [GRCh38] Chr22:21977700..22959729 [GRCh37] Chr22:20307700..21289729 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1	copy number loss	See cases [RCV000053108]	Chr22:21623411..23315617 [GRCh38] Chr22:21977700..23657804 [GRCh37] Chr22:20307700..21987804 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]\|See cases [RCV000053061]	Chr22:20726772..23135971 [GRCh38] Chr22:21081060..23478158 [GRCh37] Chr22:19411060..21808158 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]\|See cases [RCV000053157]	Chr22:21150869..22562804 [GRCh38] Chr22:21505158..22905209 [GRCh37] Chr22:19835158..21235209 [NCBI36] Chr22:22q11.21-11.22	uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3	copy number gain	See cases [RCV000053158]	Chr22:21386914..23305976 [GRCh38] Chr22:21741203..23648163 [GRCh37] Chr22:20071203..21978163 [NCBI36] Chr22:22q11.21-11.23	pathogenic\|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	copy number gain	See cases [RCV000053159]	Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3	copy number gain	See cases [RCV000053160]	Chr22:21623411..22651271 [GRCh38] Chr22:21977700..22993741 [GRCh37] Chr22:20307700..21323741 [NCBI36] Chr22:22q11.21-11.22	pathogenic\|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1	copy number loss	See cases [RCV000053074]	Chr22:21443815..24235645 [GRCh38] Chr22:21798104..24631613 [GRCh37] Chr22:20128104..22961613 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1	copy number loss	See cases [RCV000053075]	Chr22:21443815..23397298 [GRCh38] Chr22:21798104..23739485 [GRCh37] Chr22:20128104..22069485 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1	copy number loss	See cases [RCV000053077]	Chr22:21454461..24247296 [GRCh38] Chr22:21808750..24643264 [GRCh37] Chr22:20138750..22973264 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]\|See cases [RCV000053079]	Chr22:21454661..24289119 [GRCh38] Chr22:21808950..24685087 [GRCh37] Chr22:20138950..23015087 [NCBI36] Chr22:22q11.21-11.23	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 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 22q11.21-11.22(chr22:21583391-21832041)x3	copy number gain	See cases [RCV000134516]	Chr22:21583391..21832041 [GRCh38] Chr22:21937680..22186330 [GRCh37] Chr22:20267680..20516330 [NCBI36] Chr22:22q11.21-11.22	uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3	copy number gain	See cases [RCV000134888]	Chr22:20671366..22088366 [GRCh38] Chr22:21025654..22442778 [GRCh37] Chr22:19355654..20772778 [NCBI36] Chr22:22q11.21-11.22	uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1	copy number loss	See cases [RCV000135739]	Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3	copy number gain	See cases [RCV000136016]	Chr22:21454649..22562620 [GRCh38] Chr22:21808938..22905025 [GRCh37] Chr22:20138938..21235025 [NCBI36] Chr22:22q11.21-11.22	pathogenic\|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1	copy number loss	See cases [RCV000136017]	Chr22:21454649..22562620 [GRCh38] Chr22:21808938..22905025 [GRCh37] Chr22:20138938..21235025 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1	copy number loss	See cases [RCV000136889]	Chr22:20726972..24197852 [GRCh38] Chr22:21081260..24593820 [GRCh37] Chr22:19411260..22923820 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1	copy number loss	See cases [RCV000136776]	Chr22:21444416..22574173 [GRCh38] Chr22:21798705..22916612 [GRCh37] Chr22:20128705..21246612 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1	copy number loss	See cases [RCV000137685]	Chr22:21454661..24247140 [GRCh38] Chr22:21808950..24643108 [GRCh37] Chr22:20138950..22973108 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3	copy number gain	See cases [RCV000137493]	Chr22:21151069..22617194 [GRCh38] Chr22:21505358..22959664 [GRCh37] Chr22:19835358..21289664 [NCBI36] Chr22:22q11.21-11.22	uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1	copy number loss	See cases [RCV000137494]	Chr22:21151069..22617194 [GRCh38] Chr22:21505358..22959664 [GRCh37] Chr22:19835358..21289664 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	copy number gain	See cases [RCV000137926]	Chr22:20907226..37187347 [GRCh38] Chr22:21261514..37583387 [GRCh37] Chr22:19591514..35913333 [NCBI36] Chr22:22q11.21-12.3	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1	copy number loss	See cases [RCV000137767]	Chr22:21454661..23312035 [GRCh38] Chr22:21808950..23654222 [GRCh37] Chr22:20138950..21984222 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3	copy number gain	See cases [RCV000138673]	Chr22:21207181..24247140 [GRCh38] Chr22:21561470..24643108 [GRCh37] Chr22:19891470..22973108 [NCBI36] Chr22:22q11.21-11.23	uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3	copy number gain	See cases [RCV000139316]	Chr22:18178932..22562620 [GRCh38] Chr22:18661699..22905025 [GRCh37] Chr22:17041699..21235025 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1	copy number loss	See cases [RCV000139333]	Chr22:21151097..22562620 [GRCh38] Chr22:21505386..22905025 [GRCh37] Chr22:19835386..21235025 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3	copy number gain	See cases [RCV000140091]	Chr22:21583391..22647760 [GRCh38] Chr22:21937680..22990230 [GRCh37] Chr22:20267680..21320230 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1	copy number loss	See cases [RCV000141233]	Chr22:18339130..23480799 [GRCh38] Chr22:20279766..23822986 [GRCh37] Chr22:18659766..22152986 [NCBI36] Chr22:22q11.21-11.23	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1	copy number loss	See cases [RCV000141561]	Chr22:21447344..22655838 [GRCh38] Chr22:21801633..22998308 [GRCh37] Chr22:20131633..21328308 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3	copy number gain	See cases [RCV000142677]	Chr22:21151069..22489199 [GRCh38] Chr22:21505358..22843524 [GRCh37] Chr22:19835358..21173524 [NCBI36] Chr22:22q11.21-11.22	uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1	copy number loss	See cases [RCV000143267]	Chr22:21454661..22617194 [GRCh38] Chr22:21808950..22959664 [GRCh37] Chr22:20138950..21289664 [NCBI36] Chr22:22q11.21-11.22	pathogenic\|uncertain significance\|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3	copy number gain	See cases [RCV000148078]	Chr22:21454661..23414686 [GRCh38] Chr22:21808950..23756873 [GRCh37] Chr22:20138950..22086873 [NCBI36] Chr22:22q11.21-11.23	uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1	copy number loss	See cases [RCV000148145]	Chr22:21454661..22562663 [GRCh38] Chr22:21808950..22905068 [GRCh37] Chr22:20138950..21235068 [NCBI36] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1	copy number loss	See cases [RCV000240250]	Chr22:20749625..23972878 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1	copy number loss	See cases [RCV000240088]	Chr22:21923858..22963000 [GRCh37] Chr22:22q11.21-11.22	likely pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1	copy number loss	Premature ovarian failure [RCV000225330]	Chr22:18738296..25914592 [GRCh37] Chr22:22q11.21-12.1	benign
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3	copy number gain	See cases [RCV000240040]	Chr22:21400683..23654222 [GRCh37] Chr22:22q11.21-11.23	pathogenic
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 22q11.21-11.22(chr22:21923858-23025727)x3	copy number gain	See cases [RCV000240579]	Chr22:21923858..23025727 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3	copy number gain	See cases [RCV000240483]	Chr22:17264511..23238029 [GRCh37] Chr22:22q11.1-11.22	pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3	copy number gain	See cases [RCV000240348]	Chr22:16054691..27296513 [GRCh37] Chr22:22q11.1-12.1	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 22q11.21-11.22(chr22:21029655-22481498)x1	copy number loss	See cases [RCV000446664]	Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3	copy number gain	See cases [RCV000445877]	Chr22:21025654..22336268 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3	copy number gain	See cases [RCV000445928]	Chr22:21804562..24659578 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798906-22997928)x1	copy number loss	See cases [RCV000448269]	Chr22:21798906..22997928 [GRCh37] Chr22:22q11.21-11.22	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
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3	copy number gain	See cases [RCV000448224]	Chr22:16888899..23723805 [GRCh37] Chr22:22q11.1-11.23	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3	copy number gain	See cases [RCV000510372]	Chr22:21804562..23781918 [GRCh37] Chr22:22q11.21-11.23	uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1	copy number loss	See cases [RCV000510228]	Chr22:21798907..22962196 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3	copy number gain	See cases [RCV000510487]	Chr22:21798907..24963935 [GRCh37] Chr22:22q11.21-11.23	uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1	copy number loss	See cases [RCV000511898]	Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1	copy number loss	See cases [RCV000511441]	Chr22:21798907..23666232 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1	copy number loss	See cases [RCV000511924]	Chr22:21798907..22962962 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3	copy number gain	See cases [RCV000510925]	Chr22:21800796..22998050 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
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 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 22q11.21-11.23(chr22:21465661-23804835)x1	copy number loss	not provided [RCV000684507]	Chr22:21465661..23804835 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1	copy number loss	not provided [RCV000684515]	Chr22:20716876..23819697 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1	copy number loss	not provided [RCV000684518]	Chr22:21465661..24653491 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1	copy number loss	not provided [RCV000684520]	Chr22:21465661..24885806 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3	copy number gain	not provided [RCV000684491]	Chr22:21804562..22962962 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1	copy number loss	not provided [RCV000684492]	Chr22:21800470..22962196 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1	copy number loss	not provided [RCV000684499]	Chr22:21465661..22962196 [GRCh37] Chr22:22q11.21-11.22	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 22q11.21(chr22:21679616-22095920)x1	copy number loss	not provided [RCV000741778]	Chr22:21679616..22095920 [GRCh37] Chr22:22q11.21	benign
GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1	copy number loss	not provided [RCV000741779]	Chr22:21689086..22979897 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21910280-22972396)x1	copy number loss	not provided [RCV000741784]	Chr22:21910280..22972396 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
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 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 22q11.21-11.22(chr22:21800032-23237674)	copy number gain	not provided [RCV000767631]	Chr22:21800032..23237674 [GRCh37] Chr22:22q11.21-11.22	likely pathogenic
NM_001017964.2(YDJC):c.499G>A (p.Val167Met)	single nucleotide variant	Inborn genetic diseases [RCV003246336]	Chr22:21629113 [GRCh38] Chr22:21983402 [GRCh37] Chr22:22q11.21	uncertain significance
NC_000022.10:g.21808950_22963000del1154051	deletion	Chromosome 22q11.2 deletion syndrome, distal [RCV000785668]	Chr22:21808950..22963000 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)	copy number loss	Chromosome 22q11.2 deletion syndrome, distal [RCV000767634]	Chr22:21797384..23630313 [GRCh37] Chr22:22q11.21-11.23	pathogenic
NM_001017964.2(YDJC):c.230G>T (p.Arg77Leu)	single nucleotide variant	Inborn genetic diseases [RCV003272038]	Chr22:21629696 [GRCh38] Chr22:21983985 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21915095-22603542)x3	copy number gain	not provided [RCV000849651]	Chr22:21915095..22603542 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1	copy number loss	not provided [RCV000849290]	Chr22:21798906..23666232 [GRCh37] Chr22:22q11.21-11.23	pathogenic
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 22q11.21-11.23(chr22:21922619-23654064)x1	copy number loss	not provided [RCV000848992]	Chr22:21922619..23654064 [GRCh37] Chr22:22q11.21-11.23	pathogenic
Single allele	deletion	DiGeorge syndrome [RCV001003853]	Chr22:18475385..23764120 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1	copy number loss	not provided [RCV000846294]	Chr22:21465661..23810042 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1	copy number loss	not provided [RCV001007497]	Chr22:21947428..22962196 [GRCh37] Chr22:22q11.21-11.22	pathogenic
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del	deletion	Chromosome 22q11.2 deletion syndrome, distal [RCV001199824]	Chr22:21914652..22922798 [GRCh37] Chr22:22q11.21-11.22	pathogenic
NM_001017964.2(YDJC):c.374G>T (p.Gly125Val)	single nucleotide variant	Inborn genetic diseases [RCV003240407]	Chr22:21629358 [GRCh38] Chr22:21983647 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3	copy number gain	not provided [RCV001007496]	Chr22:21465661..23666232 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3	copy number gain	Cat eye syndrome [RCV001263219]	Chr22:16888899..26483608 [GRCh37] Chr22:22q11.1-12.1	pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3	copy number gain	not provided [RCV001007162]	Chr22:16888899..22290476 [GRCh37] Chr22:22q11.1-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1	copy number loss	not provided [RCV001007171]	Chr22:21029655..22481498 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3	copy number gain	See cases [RCV001194531]	Chr22:21979096..22941426 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3	copy number gain	not provided [RCV001007163]	Chr22:16888899..27657507 [GRCh37] Chr22:22q11.1-12.1	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3	copy number gain	not provided [RCV001007169]	Chr22:20732808..25193541 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21(chr22:21916216-21998113)x1	copy number loss	not provided [RCV001259982]	Chr22:21916216..21998113 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1	copy number loss	not provided [RCV001259986]	Chr22:21798906..23805099 [GRCh37] Chr22:22q11.21-11.23	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
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3	copy number gain	not provided [RCV001259984]	Chr22:19035089..22672555 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1	copy number loss	See cases [RCV002285059]	Chr22:21462566..22962196 [GRCh37] Chr22:22q11.21-11.22	pathogenic
NC_000022.10:g.21514655_22986816del	deletion	Chromosome 22q11.2 deletion syndrome, distal [RCV001250235]	Chr22:21514655..22986816 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV001801181]	Chr22:21905051..22989041 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018)	copy number gain	Chromosome 22q11.2 microduplication syndrome [RCV002280733]	Chr22:21798906..25039018 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3	copy number gain	not provided [RCV001836553]	Chr22:21465661..24631791 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21974641-22401879)x3	copy number gain	not provided [RCV001827693]	Chr22:21974641..22401879 [GRCh37] Chr22:22q11.21-11.22	uncertain significance
GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1	copy number loss	not provided [RCV002276113]	Chr22:21322233..22065138 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.641G>T (p.Arg214Leu)	single nucleotide variant	Inborn genetic diseases [RCV003279321]	Chr22:21628749 [GRCh38] Chr22:21983038 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1	copy number loss	not provided [RCV002472582]	Chr22:21465662..22962962 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3	copy number gain	not provided [RCV002474494]	Chr22:21798907..22962962 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3	copy number gain	not provided [RCV002473924]	Chr22:21029656..22485776 [GRCh37] Chr22:22q11.21-11.22	pathogenic
NM_001017964.2(YDJC):c.817G>A (p.Glu273Lys)	single nucleotide variant	Inborn genetic diseases [RCV002879786]	Chr22:21628573 [GRCh38] Chr22:21982862 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.425G>T (p.Gly142Val)	single nucleotide variant	Inborn genetic diseases [RCV002887465]	Chr22:21629187 [GRCh38] Chr22:21983476 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.592C>T (p.His198Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003006852]	Chr22:21629020 [GRCh38] Chr22:21983309 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.824G>A (p.Arg275His)	single nucleotide variant	Inborn genetic diseases [RCV002641351]	Chr22:21628566 [GRCh38] Chr22:21982855 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.197T>C (p.Leu66Pro)	single nucleotide variant	Inborn genetic diseases [RCV002961856]	Chr22:21629729 [GRCh38] Chr22:21984018 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.286C>T (p.Arg96Trp)	single nucleotide variant	Inborn genetic diseases [RCV003200122]	Chr22:21629640 [GRCh38] Chr22:21983929 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.755C>G (p.Pro252Arg)	single nucleotide variant	Inborn genetic diseases [RCV003214743]	Chr22:21628635 [GRCh38] Chr22:21982924 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.289G>A (p.Glu97Lys)	single nucleotide variant	Inborn genetic diseases [RCV003213265]	Chr22:21629637 [GRCh38] Chr22:21983926 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.653C>T (p.Ala218Val)	single nucleotide variant	Inborn genetic diseases [RCV003190205]	Chr22:21628737 [GRCh38] Chr22:21983026 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.565C>T (p.Arg189Trp)	single nucleotide variant	Inborn genetic diseases [RCV003216005]	Chr22:21629047 [GRCh38] Chr22:21983336 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.589C>T (p.Arg197Cys)	single nucleotide variant	Inborn genetic diseases [RCV003379202]	Chr22:21629023 [GRCh38] Chr22:21983312 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.953T>A (p.Leu318Gln)	single nucleotide variant	Inborn genetic diseases [RCV003345512]	Chr22:21628437 [GRCh38] Chr22:21982726 [GRCh37] Chr22:22q11.21	uncertain significance
NM_001017964.2(YDJC):c.691G>A (p.Gly231Ser)	single nucleotide variant	Inborn genetic diseases [RCV003367483]	Chr22:21628699 [GRCh38] Chr22:21982988 [GRCh37] Chr22:22q11.21	uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3	copy number gain	not provided [RCV003485239]	Chr22:21798907..23652586 [GRCh37] Chr22:22q11.21-11.23	pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1	copy number loss	not provided [RCV003483390]	Chr22:21465662..22997928 [GRCh37] Chr22:22q11.21-11.22	pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1	copy number loss	not provided [RCV003483391]	Chr22:21916217..24060551 [GRCh37] Chr22:22q11.21-11.23	pathogenic
NC_000022.10:g.(?_21797384)_(23630313_?)del	deletion	Chromosome 22q11.2 deletion syndrome, distal [RCV003885333]	Chr22:21797384..23630313 [GRCh37] Chr22:22q11.21-11.23	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2516
Count of miRNA genes:	593
Interacting mature miRNAs:	653
Transcripts:	ENST00000292778, ENST00000398873, ENST00000415762, ENST00000464015, ENST00000468686, ENST00000473985, ENST00000482998
Prediction methods:	Microtar, 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.

Markers in Region

RH94069

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	21,982,588 - 21,982,730	UniSTS	GRCh37
Build 36	22	20,312,588 - 20,312,730	RGD	NCBI36
Celera	22	5,800,128 - 5,800,270	RGD
Cytogenetic Map	22	q11.21	UniSTS
HuRef	22	4,940,462 - 4,940,604	UniSTS
GeneMap99-GB4 RH Map	22	31.39	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2047

1841

1495

437

1670

290

3270

849

3118

370

1439

1573

160

786

1927

Low

392

1150

231

187

280

175

1087

1347

616

418

861

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001017964	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371350	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_163922	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_163923	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_163924	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_163925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AP000553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017281	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053663	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC057814	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC096754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC110799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC133043	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC133047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG105883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI199854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI597711	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM048037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ050386	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000292778 ⟹ ENSP00000292778

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	21,628,089 - 21,630,022 (-)	Ensembl

RefSeq Acc Id:

ENST00000398873 ⟹ ENSP00000381847

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	21,628,167 - 21,630,035 (-)	Ensembl

RefSeq Acc Id:

ENST00000415762 ⟹ ENSP00000402481

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	21,628,089 - 21,630,064 (-)	Ensembl

RefSeq Acc Id:

ENST00000464015

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	21,628,089 - 21,630,012 (-)	Ensembl

RefSeq Acc Id:

ENST00000468686

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	21,628,089 - 21,630,031 (-)	Ensembl

RefSeq Acc Id:

ENST00000473985

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	21,628,114 - 21,630,038 (-)	Ensembl

RefSeq Acc Id:

ENST00000482998

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	21,628,122 - 21,630,014 (-)	Ensembl

RefSeq Acc Id:

NM_001017964 ⟹ NP_001017964

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	21,628,089 - 21,630,022 (-)	NCBI
GRCh37	22	21,982,378 - 21,999,017 (-)	NCBI
Build 36	22	20,312,378 - 20,314,340 (-)	NCBI Archive
Celera	22	5,799,918 - 5,801,880 (-)	RGD
HuRef	22	4,940,252 - 4,942,214 (-)	RGD
CHM1_1	22	21,982,576 - 21,984,538 (-)	NCBI
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	NCBI

Sequence:

show sequence

AGGCGGCCATGTCCCGCCCTCGCATGCGCCTGGTGGTCACCGCGGACGACTTTGGTTACTGCCC
GCGACGCGATGAGGGTATCGTGGAGGCCTTTCTGGCCGGGGCTGTGACCAGCGTGTCCCTGCTG
GTCAACGGTGCGGCCACGGAGAGCGCGGCGGAGCTGGCCCGCAGGCACAGCATCCCCACGGGCC
TCCACGCCAACCTGTCCGAGGGCCGCCCCGTGGGTCCGGCCCGCCGTGGCGCCTCATCGCTGCT
CGGCCCGGAAGGCTTCTTCCTTGGCAAGATGGGATTCCGGGAGGCGGTGGCGGCCGGAGACGTG
GATTTGCCTCAGGTGCGGGAGGAGCTCGAGGCCCAACTAAGCTGCTTCCGGGAGCTGCTGGGCA
GGGCCCCCACGCACGCGGACGGGCACCAGCACGTGCACGTGCTCCCAGGCGTGTGCCAGGTGTT
CGCCGAGGCGCTGCAGGCCTATGGGGTGCGCTTTACGCGACTGCCGCTGGAGCGCGGTGTGGGT
GGCTGCACTTGGCTGGAGGCCCCCGCGCGTGCCTTCGCCTGCGCCGTGGAGCGCGACGCCCGGG
CCGCCGTGGGCCCCTTCTCCCGCCACGGCCTGCGGTGGACAGACGCCTTCGTGGGCCTGAGCAC
TTGCGGCCGGCACATGTCCGCTCACCGCGTGTCCGGGGCCCTGGCGCGGGTCCTGGAAGGTACC
CTAGCGGGCCACACCCTGACAGCCGAGCTGATGGCGCACCCCGGCTACCCCAGTGTGCCTCCCA
CCGGCGGCTGCGGTGAAGGCCCCGACGCTTTCTCTTGCTCTTGGGAGCGGCTGCATGAGCTGCG
CGTCCTCACCGCGCCCACGCTGCGGGCCCAGCTTGCCCAGGATGGCGTGCAGCTTTGCGCCCTC
GACGACCTGGACTCCAAGAGGCCAGGGGAGGAGGTCCCCTGTGAGCCCACTCTGGAACCCTTCC
TGGAACCCTCCCTACTCTGACCCCCTACAGACAACCAAGCACTAATCCCCTTAGTACCAAGAAA
GGGGAGCCAGGATTTAGTCCTGGCCCAGCCCAGAGCTGGGACCTGGAGCACGATCTGTTGACTT
CCCTGGGTAGGACACTGCCACCTCTGGGCTCAGGTCCTCATGCCTCCAAATGGCATCTAGAGTT
TGAGCAGCCTTCTTGGCTGCAGGCAGGCCTAGCCTGTGGCAGCGGGCTAGGGCCCGCAGAGCAT
TTGGTGCCCCTCCATGTTGCAATGCAAACACCTTCACCACTGGGGCAGTGGGGAGAGATGGCTA
TATTAATAAAATAACGTGTGTCTTTCAAA

hide sequence

RefSeq Acc Id:

NM_001371350 ⟹ NP_001358279

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	21,628,089 - 21,630,022 (-)	NCBI
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	NCBI

Sequence:

show sequence

AGGCGGCCATGTCCCGCCCTCGCATGCGCCTGGTGGTCACCGCGGACGACTTTGGTTACTGCCC
GCGACGCGATGAGGGTATCGTGGAGGCCTTTCTGGCCGGGGCTGTGACCAGCGTGTCCCTGCTG
GTCAACGGTGCGGCCACGGAGAGCGCGGCGGAGCTGGCCCGCAGGCACAGCATCCCCACGGGCC
TCCACGCCAACCTGTCCGAGGGCCGCCCCGTGGGTCCGGCCCGCCGTGGCGCCTCATCGCTGCT
CGGCCCGGAAGGCTTCTTCCTTGGCAAGATGGGATTCCGGGAGGCGGTGGCGGCCGGAGACGTG
GATTTGCCTCAGGTGCGGGAGGAGCTCGAGGCCCAACTAAGCTGCTTCCGGGAGCTGCTGGGCA
GGGCCCCCACGCACGCGGACGGGCACCAGCACGTGCACGTGCTCCCAGGTGGACAGACGCCTTC
GTGGGCCTGAGCACTTGCGGCCGGCACATGTCCGCTCACCGCGTGTCCGGGGCCCTGGCGCGGG
TCCTGGAAGGTACCCTAGCGGGCCACACCCTGACAGCCGAGCTGATGGCGCACCCCGGCTACCC
CAGTGTGCCTCCCACCGGCGGCTGCGGTGAAGGCCCCGACGCTTTCTCTTGCTCTTGGGAGCGG
CTGCATGAGCTGCGCGTCCTCACCGCGCCCACGCTGCGGGCCCAGCTTGCCCAGGATGGCGTGC
AGCTTTGCGCCCTCGACGACCTGGACTCCAAGAGGCCAGGGGAGGAGGTCCCCTGTGAGCCCAC
TCTGGAACCCTTCCTGGAACCCTCCCTACTCTGACCCCCTACAGACAACCAAGCACTAATCCCC
TTAGTACCAAGAAAGGGGAGCCAGGATTTAGTCCTGGCCCAGCCCAGAGCTGGGACCTGGAGCA
CGATCTGTTGACTTCCCTGGGTAGGACACTGCCACCTCTGGGCTCAGGTCCTCATGCCTCCAAA
TGGCATCTAGAGTTTGAGCAGCCTTCTTGGCTGCAGGCAGGCCTAGCCTGTGGCAGCGGGCTAG
GGCCCGCAGAGCATTTGGTGCCCCTCCATGTTGCAATGCAAACACCTTCACCACTGGGGCAGTG
GGGAGAGATGGCTATATTAATAAAATAACGTGTGTCTTTCAAA

hide sequence

RefSeq Acc Id:

NR_163922

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	21,628,089 - 21,630,022 (-)	NCBI
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	NCBI

Sequence:

show sequence

AGGCGGCCATGTCCCGCCCTCGCATGCGCCTGGTGGTCACCGCGGACGACTTTGGTTACTGCCC
GCGACGCGATGAGGGTATCGTGGAGGCCTTTCTGGCCGGGGCTGTGACCAGCGTGTCCCTGCTG
GTCAACGGTGCGGCCACGGAGAGCGCGGCGGAGCTGGCCCGCAGGCACAGCATCCCCACGGGCC
TCCACGCCAACCTGTCCGAGGGCCGCCCCGTGGGTCCGGCCCGCCGTGGCGCCTCATCGCTGCT
CGGCCCGGAAGGCTTCTTCCTTGGCAAGATGGGATTCCGGGAGGCGGTGGCGGCCGGAGACGTG
GATTTGCCTCAGGTGCGGAGCCGCAGCTACAGGAGGATGCTCGCGAGGACCCCCAGAGCTCCGC
CCGGAGGGTGCGGGAGGAGCTCGAGGCCCAACTAAGCTGCTTCCGGGAGCTGCTGGGCAGGGCC
CCCACGCACGCGGACGGGCACCAGCACGTGCACGTGCTCCCAGGCGTGTGCCAGGTGTTCGCCG
AGGCGCTGCAGGCCTATGGGGTGCGCTTTACGCGACTGCCGCTGGAGCGCGGTGTGGGTGGCTG
CACTTGGCTGGAGGCCCCCGCGCGTGCCTTCGCCTGCGCCGTGGAGCGCGACGCCCGGGCCGCC
GTGGGCCCCTTCTCCCGCCACGGCCTGCGGTGGACAGACGCCTTCGTGGGCCTGAGCACTTGCG
GCCGGCACATGTCCGCTCACCGCGTGTCCGGGGCCCTGGCGCGGGTCCTGGAAGGTACCCTAGC
GGGCCACACCCTGACAGCCGAGCTGATGGCGCACCCCGGCTACCCCAGTGTGCCTCCCACCGGC
GGCTGCGGTGAAGGCCCCGACGCTTTCTCTTGCTCTTGGGAGCGGCTGCATGAGCTGCGCGTCC
TCACCGCGCCCACGCTGCGGGCCCAGCTTGCCCAGGATGGCGTGCAGCTTTGCGCCCTCGACGA
CCTGGACTCCAAGAGGCCAGGGGAGGAGGTCCCCTGTGAGCCCACTCTGGAACCCTTCCTGGAA
CCCTCCCTACTCTGACCCCCTACAGACAACCAAGCACTAATCCCCTTAGTACCAAGAAAGGGGA
GCCAGGATTTAGTCCTGGCCCAGCCCAGAGCTGGGACCTGGAGCACGATCTGTTGACTTCCCTG
GGTAGGACACTGCCACCTCTGGGCTCAGGTCCTCATGCCTCCAAATGGCATCTAGAGTTTGAGC
AGCCTTCTTGGCTGCAGGCAGGCCTAGCCTGTGGCAGCGGGCTAGGGCCCGCAGAGCATTTGGT
GCCCCTCCATGTTGCAATGCAAACACCTTCACCACTGGGGCAGTGGGGAGAGATGGCTATATTA
ATAAAATAACGTGTGTCTTTCAAA

hide sequence

RefSeq Acc Id:

NR_163923

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	21,628,089 - 21,630,022 (-)	NCBI
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	NCBI

Sequence:

show sequence

AGGCGGCCATGTCCCGCCCTCGCATGCGCCTGGTGGTCACCGCGGACGACTTTGGTTACTGCCC
GCGACGCGATGAGGGTATCGTGGAGGCCTTTCTGGCCGGGGCTGTGACCAGCGTGTCCCTGCTG
GTCAACGGTGCGGCCACGGAGAGCGCGGCGGAGCTGGCCCGCAGGCACAGCATCCCCACGGGCC
TCCACGCCAACCTGTCCGAGGGCCGCCCCGTGGGTCCGGCCCGCCGTGGCGCCTCATCGCTGCT
CGGCCCGGAAGGCTTCTTCCTTGGCAAGATGGGATTCCGGGAGGCGGTGGCGGCCGGAGACGTG
GATTTGCCTCAGGTGCGGAGCCGCAGCTACAGGAGGATGCTCGCGAGGACCCCCAGAGCTCCGC
CCGGAGGGTGCGGGAGGAGCTCGAGGCCCAACTAAGCTGCTTCCGGGAGCTGCTGGGCAGGGCC
CCCACGCACGCGGACGGGCACCAGCACGTGCACGTGCTCCCAGGTGGACAGACGCCTTCGTGGG
CCTGAGCACTTGCGGCCGGCACATGTCCGCTCACCGCGTGTCCGGGGCCCTGGCGCGGGTCCTG
GAAGGTACCCTAGCGGGCCACACCCTGACAGCCGAGCTGATGGCGCACCCCGGCTACCCCAGTG
TGCCTCCCACCGGCGGCTGCGGTGAAGGCCCCGACGCTTTCTCTTGCTCTTGGGAGCGGCTGCA
TGAGCTGCGCGTCCTCACCGCGCCCACGCTGCGGGCCCAGCTTGCCCAGGATGGCGTGCAGCTT
TGCGCCCTCGACGACCTGGACTCCAAGAGGCCAGGGGAGGAGGTCCCCTGTGAGCCCACTCTGG
AACCCTTCCTGGAACCCTCCCTACTCTGACCCCCTACAGACAACCAAGCACTAATCCCCTTAGT
ACCAAGAAAGGGGAGCCAGGATTTAGTCCTGGCCCAGCCCAGAGCTGGGACCTGGAGCACGATC
TGTTGACTTCCCTGGGTAGGACACTGCCACCTCTGGGCTCAGGTCCTCATGCCTCCAAATGGCA
TCTAGAGTTTGAGCAGCCTTCTTGGCTGCAGGCAGGCCTAGCCTGTGGCAGCGGGCTAGGGCCC
GCAGAGCATTTGGTGCCCCTCCATGTTGCAATGCAAACACCTTCACCACTGGGGCAGTGGGGAG
AGATGGCTATATTAATAAAATAACGTGTGTCTTTCAAA

hide sequence

RefSeq Acc Id:

NR_163924

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	21,628,089 - 21,630,022 (-)	NCBI
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	NCBI

Sequence:

show sequence

AGGCGGCCATGTCCCGCCCTCGCATGCGCCTGGTGGTCACCGCGGACGACTTTGGTTACTGCCC
GCGACGCGATGAGGGTATCGTGGAGGCCTTTCTGGCCGGGGCTGTGACCAGCGTGTCCCTGCTG
GTCAACGGTGCGGCCACGGAGAGCGCGGCGGAGCTGGCCCGCAGGCACAGCATCCCCACGGGCC
TCCACGCCAACCTGTCCGAGGGCCGCCCCGTGGGTCCGGCCCGCCGTGGCGCCTCATCGCTGCT
CGGCCCGGAAGGCTTCTTCCTTGGCAAGATGGGATTCCGGGAGGCGGTGGCGGCCGGAGACGTG
GATTTGCCTCAGGTGCGGAGCCGCAGCTACAGGAGGATGCTCGCGAGGACCCCCAGAGCTCCGC
CCGGAGGGTACTGTGAGGCCGTTAGGAGCTGGCGGTGGATGACTTCCGCATTCAAACACTGGAG
CCATCACACGGAAGCACGAGGAGGGTATCCTCGGCAGCTACTCCCGGTCGCTCAAGGTGTCTCT
CGCTCGCCCTCTAGGTGCGGGAGGAGCTCGAGGCCCAACTAAGCTGCTTCCGGGAGCTGCTGGG
CAGGGCCCCCACGCACGCGGACGGGCACCAGCACGTGCACGTGCTCCCAGGCGTGTGCCAGGTG
TTCGCCGAGGCGCTGCAGGCCTATGGGGTGCGCTTTACGCGACTGCCGCTGGAGCGCGGTGTGG
GTGGCTGCACTTGGCTGGAGGCCCCCGCGCGTGCCTTCGCCTGCGCCGTGGAGCGCGACGCCCG
GGCCGCCGTGGGCCCCTTCTCCCGCCACGGCCTGCGGTGGACAGACGCCTTCGTGGGCCTGAGC
ACTTGCGGCCGGCACATGTCCGCTCACCGCGTGTCCGGGGCCCTGGCGCGGGTCCTGGAAGGTA
CCCTAGCGGGCCACACCCTGACAGCCGAGCTGATGGCGCACCCCGGCTACCCCAGTGTGCCTCC
CACCGGCGGCTGCGGTGAAGGCCCCGACGCTTTCTCTTGCTCTTGGGAGCGGCTGCATGAGCTG
CGCGTCCTCACCGCGCCCACGCTGCGGGCCCAGCTTGCCCAGGATGGCGTGCAGCTTTGCGCCC
TCGACGACCTGGACTCCAAGAGGCCAGGGGAGGAGGTCCCCTGTGAGCCCACTCTGGAACCCTT
CCTGGAACCCTCCCTACTCTGACCCCCTACAGACAACCAAGCACTAATCCCCTTAGTACCAAGA
AAGGGGAGCCAGGATTTAGTCCTGGCCCAGCCCAGAGCTGGGACCTGGAGCACGATCTGTTGAC
TTCCCTGGGTAGGACACTGCCACCTCTGGGCTCAGGTCCTCATGCCTCCAAATGGCATCTAGAG
TTTGAGCAGCCTTCTTGGCTGCAGGCAGGCCTAGCCTGTGGCAGCGGGCTAGGGCCCGCAGAGC
ATTTGGTGCCCCTCCATGTTGCAATGCAAACACCTTCACCACTGGGGCAGTGGGGAGAGATGGC
TATATTAATAAAATAACGTGTGTCTTTCAAA

hide sequence

RefSeq Acc Id:

NR_163925

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	21,628,089 - 21,630,022 (-)	NCBI
T2T-CHM13v2.0	22	22,041,573 - 22,043,506 (-)	NCBI

Sequence:

show sequence

AGGCGGCCATGTCCCGCCCTCGCATGCGCCTGGTGGTCACCGCGGACGACTTTGGTTACTGCCC
GCGACGCGATGAGGGTATCGTGGAGGCCTTTCTGGCCGGGGCTGTGACCAGCGTGTCCCTGCTG
GTCAACGGTGCGGCCACGGAGAGCGCGGCGGAGCTGGCCCGCAGGCACAGCATCCCCACGGGCC
TCCACGCCAACCTGTCCGAGGGCCGCCCCGTGGGTCCGGCCCGCCGTGGCGCCTCATCGCTGCT
CGGCCCGGAAGGCTTCTTCCTTGGCAAGATGGGATTCCGGGAGGCGGTGGCGGCCGGAGACGTG
GATTTGCCTCAGGTGCGGAGCCGCAGCTACAGGAGGATGCTCGCGAGGACCCCCAGAGCTCCGC
CCGGAGGGTACTGTGAGGCCGTTAGGAGCTGGCGGTGGATGACTTCCGCATTCAAACACTGGAG
CCATCACACGGAAGCACGAGGAGGGTATCCTCGGCAGCTACTCCCGGTCGCTCAAGGTGTCTCT
CGCTCGCCCTCTAGGTGCGGGAGGAGCTCGAGGCCCAACTAAGCTGCTTCCGGGAGCTGCTGGG
CAGGGCCCCCACGCACGCGGACGGGCACCAGCACGTGCACGTGCTCCCAGGTGGACAGACGCCT
TCGTGGGCCTGAGCACTTGCGGCCGGCACATGTCCGCTCACCGCGTGTCCGGGGCCCTGGCGCG
GGTCCTGGAAGGTACCCTAGCGGGCCACACCCTGACAGCCGAGCTGATGGCGCACCCCGGCTAC
CCCAGTGTGCCTCCCACCGGCGGCTGCGGTGAAGGCCCCGACGCTTTCTCTTGCTCTTGGGAGC
GGCTGCATGAGCTGCGCGTCCTCACCGCGCCCACGCTGCGGGCCCAGCTTGCCCAGGATGGCGT
GCAGCTTTGCGCCCTCGACGACCTGGACTCCAAGAGGCCAGGGGAGGAGGTCCCCTGTGAGCCC
ACTCTGGAACCCTTCCTGGAACCCTCCCTACTCTGACCCCCTACAGACAACCAAGCACTAATCC
CCTTAGTACCAAGAAAGGGGAGCCAGGATTTAGTCCTGGCCCAGCCCAGAGCTGGGACCTGGAG
CACGATCTGTTGACTTCCCTGGGTAGGACACTGCCACCTCTGGGCTCAGGTCCTCATGCCTCCA
AATGGCATCTAGAGTTTGAGCAGCCTTCTTGGCTGCAGGCAGGCCTAGCCTGTGGCAGCGGGCT
AGGGCCCGCAGAGCATTTGGTGCCCCTCCATGTTGCAATGCAAACACCTTCACCACTGGGGCAG
TGGGGAGAGATGGCTATATTAATAAAATAACGTGTGTCTTTCAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001017964	(Get FASTA)	NCBI Sequence Viewer
	NP_001358279	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A8MPS7	(Get FASTA)	NCBI Sequence Viewer
	AAI10076	(Get FASTA)	NCBI Sequence Viewer
	AAI33044	(Get FASTA)	NCBI Sequence Viewer
	AAI33048	(Get FASTA)	NCBI Sequence Viewer
	EAW59461	(Get FASTA)	NCBI Sequence Viewer
	EAW59462	(Get FASTA)	NCBI Sequence Viewer
	EAW59463	(Get FASTA)	NCBI Sequence Viewer
	EAW59464	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000292778
	ENSP00000292778.6
	ENSP00000381847
	ENSP00000381847.3
	ENSP00000402481.2

RefSeq Acc Id:	NP_001017964 ⟸ NM_001017964
- Peptide Label:	isoform 1
- UniProtKB:	Q2YDT4 (UniProtKB/Swiss-Prot), Q4V9R7 (UniProtKB/Swiss-Prot), A8MPS7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSRPRMRLVVTADDFGYCPRRDEGIVEAFLAGAVTSVSLLVNGAATESAAELARRHSIPTGLHA NLSEGRPVGPARRGASSLLGPEGFFLGKMGFREAVAAGDVDLPQVREELEAQLSCFRELLGRAP THADGHQHVHVLPGVCQVFAEALQAYGVRFTRLPLERGVGGCTWLEAPARAFACAVERDARAAV GPFSRHGLRWTDAFVGLSTCGRHMSAHRVSGALARVLEGTLAGHTLTAELMAHPGYPSVPPTGG CGEGPDAFSCSWERLHELRVLTAPTLRAQLAQDGVQLCALDDLDSKRPGEEVPCEPTLEPFLEP SLL hide sequence

RefSeq Acc Id:	NP_001358279 ⟸ NM_001371350
- Peptide Label:	isoform 2

RefSeq Acc Id:

ENSP00000381847 ⟸ ENST00000398873

RefSeq Acc Id:

ENSP00000292778 ⟸ ENST00000292778

RefSeq Acc Id:

ENSP00000402481 ⟸ ENST00000415762

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A8MPS7-F1-model_v2	AlphaFold	A8MPS7	1-323	view protein structure

Promoters

RGD ID:

6800065

Promoter ID:

HG_KWN:41769

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:

OTTHUMT00000320213, OTTHUMT00000320214, OTTHUMT00000320215, OTTHUMT00000320216, OTTHUMT00000320217, OTTHUMT00000320218, UC002ZVD.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	20,313,671 - 20,314,277 (-)	MPROMDB

RGD ID:

13603322

Promoter ID:

EPDNEW_H27845

Type:

initiation region

Name:

YDJC_1

Description:

YdjC chitooligosaccharide deacetylase homolog

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	21,630,014 - 21,630,074	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:27158	AgrOrtholog
COSMIC	YDJC	COSMIC
Ensembl Genes	ENSG00000161179	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000292778	ENTREZGENE
	ENST00000292778.11	UniProtKB/Swiss-Prot
	ENST00000398873	ENTREZGENE
	ENST00000398873.4	UniProtKB/Swiss-Prot
	ENST00000415762	ENTREZGENE
	ENST00000415762.6	UniProtKB/Swiss-Prot
	ENST00000473985	ENTREZGENE
Gene3D-CATH	Glycoside hydrolase/deacetylase	UniProtKB/Swiss-Prot
GTEx	ENSG00000161179	GTEx
HGNC ID	HGNC:27158	ENTREZGENE
Human Proteome Map	YDJC	Human Proteome Map
InterPro	Glyco_hydro/deAcase_b/a-brl	UniProtKB/Swiss-Prot
	YdjC-like	UniProtKB/Swiss-Prot
KEGG Report	hsa:150223	UniProtKB/Swiss-Prot
NCBI Gene	150223	ENTREZGENE
OMIM	619770	OMIM
PANTHER	CARBOHYDRATE DEACETYLASE	UniProtKB/Swiss-Prot
	PTHR31609	UniProtKB/Swiss-Prot
Pfam	YdjC	UniProtKB/Swiss-Prot
PharmGKB	PA162409362	PharmGKB
Superfamily-SCOP	SSF88713	UniProtKB/Swiss-Prot
UniProt	A8MPS7	ENTREZGENE
	Q2YDT4	ENTREZGENE
	Q4V9R7	ENTREZGENE
	YDJC_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q2YDT4	UniProtKB/Swiss-Prot
	Q4V9R7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-04-04	YDJC	YdjC chitooligosaccharide deacetylase homolog		YdjC homolog (bacterial)	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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