CRELD2 (cysteine rich with EGF like domains 2) - Rat Genome Database

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Gene: CRELD2 (cysteine rich with EGF like domains 2) Homo sapiens
Analyze
Symbol: CRELD2
Name: cysteine rich with EGF like domains 2
RGD ID: 1603954
HGNC Page HGNC:28150
Description: Predicted to enable calcium ion binding activity and protein disulfide isomerase activity. Predicted to be located in Golgi apparatus; endoplasmic reticulum; and extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cysteine rich with EGF-like domains 2; cysteine-rich with EGF-like domain protein 2; cysteine-rich with EGF-like domains 2; DKFZp667O055; MGC11256
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382249,918,634 - 49,927,537 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2249,918,167 - 49,927,540 (+)EnsemblGRCh38hg38GRCh38
GRCh372250,312,282 - 50,321,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362248,698,348 - 48,707,180 (+)NCBINCBI36Build 36hg18NCBI36
Celera2234,233,563 - 34,242,609 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,259,128 - 33,267,907 (+)NCBIHuRef
CHM1_12250,271,043 - 50,279,680 (+)NCBICHM1_1
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-amino-2,6-dinitrotoluene  (ISO)
acrolein  (EXP)
alpha-pinene  (EXP)
Aroclor 1254  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
captan  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP)
clobetasol  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
coumarin  (ISO)
cyclosporin A  (EXP,ISO)
dichloroacetic acid  (ISO)
dioxygen  (ISO)
diquat  (ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
graphene oxide  (ISO)
inulin  (ISO)
ivermectin  (EXP)
ketamine  (ISO)
leflunomide  (ISO)
metformin  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
O-methyleugenol  (EXP)
ozone  (EXP)
paracetamol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pinostrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP,ISO)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP,ISO)
titanium dioxide  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:8125298   PMID:12137942   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15340161   PMID:15489334   PMID:16238698   PMID:16919896   PMID:21653829   PMID:21900206   PMID:21988832  
PMID:23455924   PMID:23956175   PMID:24019898   PMID:24687431   PMID:24927181   PMID:26186194   PMID:28298427   PMID:28514442   PMID:30021884   PMID:32451439   PMID:33545068   PMID:33961781  
PMID:34549824   PMID:34709727   PMID:35384245   PMID:35563538   PMID:35696571   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36936176  


Genomics

Comparative Map Data
CRELD2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382249,918,634 - 49,927,537 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2249,918,167 - 49,927,540 (+)EnsemblGRCh38hg38GRCh38
GRCh372250,312,282 - 50,321,185 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362248,698,348 - 48,707,180 (+)NCBINCBI36Build 36hg18NCBI36
Celera2234,233,563 - 34,242,609 (+)NCBICelera
Cytogenetic Map22q13.33NCBI
HuRef2233,259,128 - 33,267,907 (+)NCBIHuRef
CHM1_12250,271,043 - 50,279,680 (+)NCBICHM1_1
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBIT2T-CHM13v2.0
Creld2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391588,703,849 - 88,710,884 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1588,703,849 - 88,710,886 (+)EnsemblGRCm39 Ensembl
GRCm381588,819,646 - 88,826,681 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1588,819,646 - 88,826,683 (+)EnsemblGRCm38mm10GRCm38
MGSCv371588,650,076 - 88,657,111 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361588,647,412 - 88,654,447 (+)NCBIMGSCv36mm8
Celera1590,945,467 - 90,952,501 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1544.31NCBI
Creld2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87121,788,754 - 121,796,230 (+)NCBIGRCr8
mRatBN7.27119,909,626 - 119,916,556 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7119,909,633 - 119,916,543 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7121,660,746 - 121,667,601 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07123,886,926 - 123,893,781 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07123,850,170 - 123,857,025 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07129,812,746 - 129,819,641 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7129,812,789 - 129,819,634 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07129,501,469 - 129,508,353 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47127,123,883 - 127,130,729 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17127,158,110 - 127,164,955 (+)NCBI
Celera7116,383,403 - 116,390,251 (+)NCBICelera
Cytogenetic Map7q34NCBI
Creld2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541333,040,024 - 33,046,390 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541333,039,931 - 33,046,622 (+)NCBIChiLan1.0ChiLan1.0
CRELD2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22359,818,034 - 59,829,711 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12262,502,741 - 62,515,691 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02230,139,539 - 30,152,462 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12249,141,978 - 49,156,608 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2249,141,973 - 49,156,375 (+)Ensemblpanpan1.1panPan2
CRELD2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11017,286,141 - 17,293,327 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1017,286,134 - 17,293,740 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1017,265,219 - 17,273,037 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01018,014,613 - 18,022,399 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1018,014,606 - 18,022,384 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11017,737,981 - 17,745,763 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01018,061,023 - 18,068,841 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01018,193,194 - 18,201,016 (-)NCBIUU_Cfam_GSD_1.0
Creld2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945835,794 - 844,011 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936629835,789 - 844,049 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936629835,802 - 844,009 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRELD2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl5709,045 - 716,771 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.15709,042 - 716,766 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25110,965,837 - 110,973,559 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CRELD2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11932,420,315 - 32,430,770 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1932,420,370 - 32,430,904 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604592,963,716 - 92,975,425 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Creld2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624752735,230 - 744,912 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624752738,074 - 744,897 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CRELD2
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 22q13.2-13.33(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 22q13.31-13.33(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(chr22:33768441-50739977)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 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(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 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 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(chr22:49378128-50739836)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 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 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 22q13.31-13.33(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 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 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 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
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(chr22:49535113-50780581)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(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 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 22q13.31-13.33(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 22q13.2-13.33(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 22q13.2-13.33(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 22q13.32-13.33(chr22:48904534-50138137)x3 copy number gain See cases [RCV000143711] Chr22:48904534..50138137 [GRCh38]
Chr22:49300346..50576566 [GRCh37]
Chr22:47686350..48918693 [NCBI36]
Chr22:22q13.32-13.33		 uncertain significance
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
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 22q13.33(chr22:50318056-50437748)x3 copy number gain Breast ductal adenocarcinoma [RCV000207176] Chr22:50318056..50437748 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50318056-50356682)x4 copy number gain Breast ductal adenocarcinoma [RCV000207303] Chr22:50318056..50356682 [GRCh37]
Chr22:22q13.33		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000208741] Chr22:49033233..51193680 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000208731] Chr22:50282986..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 copy number loss See cases [RCV000239941] Chr22:46316673..50357320 [GRCh37]
Chr22:22q13.31-13.33		 likely 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 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 22q13.31-13.33(chr22:47247169-51176099)x1 copy number loss See cases [RCV000449140] Chr22:47247169..51176099 [GRCh37]
Chr22:22q13.31-13.33		 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 22q13.31-13.33(chr22:47187586-51237463)x1 copy number loss See cases [RCV000446928] Chr22:47187586..51237463 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 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 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 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 22q13.31-13.33(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
NM_024324.5(CRELD2):c.13C>T (p.Arg5Cys) single nucleotide variant Inborn genetic diseases [RCV003300922] Chr22:49918782 [GRCh38]
Chr22:50312430 [GRCh37]
Chr22:22q13.33		 uncertain significance
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(chr22:50190425-51183767)x1 copy number loss not provided [RCV000684487] Chr22:50190425..51183767 [GRCh37]
Chr22:22q13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:50172899-50464915)x3 copy number gain not provided [RCV000684468] Chr22:50172899..50464915 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.33(chr22:50081517-50610628)x1 copy number loss not provided [RCV000684477] Chr22:50081517..50610628 [GRCh37]
Chr22:22q13.33		 uncertain significance
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(chr22:50320943-50472042)x3 copy number gain not provided [RCV000742091] Chr22:50320943..50472042 [GRCh37]
Chr22:22q13.33		 benign
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(chr22:49648935-51197838)x3 copy number gain not provided [RCV001007194] Chr22:49648935..51197838 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_024324.5(CRELD2):c.708C>T (p.Ala236=) single nucleotide variant not provided [RCV000966106] Chr22:49923253 [GRCh38]
Chr22:50316901 [GRCh37]
Chr22:22q13.33		 benign
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 not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
GRCh37/hg19 22q13.32-13.33(chr22:48454469-51144947)x3 copy number gain not provided [RCV001007507] Chr22:48454469..51144947 [GRCh37]
Chr22:22q13.32-13.33		 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 22q13.31-13.33(chr22:47740201-51197838)x3 copy number gain not provided [RCV000846659] Chr22:47740201..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
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
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
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 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
NM_024324.5(CRELD2):c.593-322_593-286del deletion not provided [RCV000950026] Chr22:49922289..49922325 [GRCh38]
Chr22:50315937..50315973 [GRCh37]
Chr22:22q13.33		 benign
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
NM_024324.5(CRELD2):c.882C>T (p.Cys294=) single nucleotide variant not provided [RCV000957768] Chr22:49925430 [GRCh38]
Chr22:50319078 [GRCh37]
Chr22:22q13.33		 benign|likely benign
NM_024324.5(CRELD2):c.486C>T (p.Gly162=) single nucleotide variant not provided [RCV000958283] Chr22:49921655 [GRCh38]
Chr22:50315303 [GRCh37]
Chr22:22q13.33		 benign
GRCh37/hg19 22q13.33(chr22:50099570-51187115)x1 copy number loss not provided [RCV001537924] Chr22:50099570..51187115 [GRCh37]
Chr22:22q13.33		 pathogenic
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
NC_000022.11:g.49181210_50759297del deletion Phelan-McDermid syndrome [RCV001254368] Chr22:49181210..50759297 [GRCh38]
Chr22:22q13.33		 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.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [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.47823120_50759410del deletion Phelan-McDermid syndrome [RCV001254355] Chr22:47823120..50759410 [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.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [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.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [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.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.47705262_50739836del deletion Phelan-McDermid syndrome [RCV001254360] Chr22:47705262..50739836 [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.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
Single allele duplication Chromosome 22q13 duplication syndrome [RCV002280361] Chr22:49883237..50740457 [GRCh38]
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 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 deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.10:g.(?_50297466)_(51066227_?)del deletion ALG12-congenital disorder of glycosylation [RCV001384242] Chr22:50297466..51066227 [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 22q13.31-13.33(chr22:47554026-51186813)x1 copy number loss not provided [RCV001795845] Chr22:47554026..51186813 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49976054-50346635) copy number gain not specified [RCV002052765] Chr22:49976054..50346635 [GRCh37]
Chr22:22q13.33		 uncertain significance
NC_000022.10:g.(?_50167881)_(51066207_?)dup duplication ALG12-congenital disorder of glycosylation [RCV001950618] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 uncertain significance
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(chr22:49729747-51197838) copy number loss not specified [RCV002052764] Chr22:49729747..51197838 [GRCh37]
Chr22:22q13.33		 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
NC_000022.10:g.(?_50167881)_(51066207_?)del deletion Metachromatic leukodystrophy [RCV003111291]|not provided [RCV003111290] Chr22:50167881..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic|no classifications from unflagged records
NC_000022.10:g.(?_50297486)_(51066207_?)del deletion not provided [RCV003116314] Chr22:50297486..51066207 [GRCh37]
Chr22:22q13.33		 pathogenic
NM_024324.5(CRELD2):c.691G>A (p.Val231Met) single nucleotide variant Inborn genetic diseases [RCV003281765] Chr22:49923236 [GRCh38]
Chr22:50316884 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.97C>G (p.Arg33Gly) single nucleotide variant Inborn genetic diseases [RCV003282173] Chr22:49918866 [GRCh38]
Chr22:50312514 [GRCh37]
Chr22:22q13.33		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 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(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 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
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 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_024324.5(CRELD2):c.593-208G>T single nucleotide variant Inborn genetic diseases [RCV002682344] Chr22:49922404 [GRCh38]
Chr22:50316052 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.1028G>A (p.Ser343Asn) single nucleotide variant Inborn genetic diseases [RCV002728605] Chr22:49927273 [GRCh38]
Chr22:50320921 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.593-244G>A single nucleotide variant Inborn genetic diseases [RCV002839721] Chr22:49922368 [GRCh38]
Chr22:50316016 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.1019A>T (p.Glu340Val) single nucleotide variant Inborn genetic diseases [RCV002751699] Chr22:49927264 [GRCh38]
Chr22:50320912 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.593-294C>G single nucleotide variant Inborn genetic diseases [RCV002683851] Chr22:49922318 [GRCh38]
Chr22:50315966 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.763A>G (p.Thr255Ala) single nucleotide variant Inborn genetic diseases [RCV002783547] Chr22:49923308 [GRCh38]
Chr22:50316956 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.944A>G (p.Tyr315Cys) single nucleotide variant Inborn genetic diseases [RCV002783723] Chr22:49925492 [GRCh38]
Chr22:50319140 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.275A>G (p.Gln92Arg) single nucleotide variant Inborn genetic diseases [RCV002696903] Chr22:49919792 [GRCh38]
Chr22:50313440 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.593-222C>T single nucleotide variant Inborn genetic diseases [RCV003003926] Chr22:49922390 [GRCh38]
Chr22:50316038 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.430T>C (p.Ser144Pro) single nucleotide variant Inborn genetic diseases [RCV002874973] Chr22:49921599 [GRCh38]
Chr22:50315247 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.40C>T (p.Leu14Phe) single nucleotide variant Inborn genetic diseases [RCV002645366] Chr22:49918809 [GRCh38]
Chr22:50312457 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.98G>A (p.Arg33Gln) single nucleotide variant Inborn genetic diseases [RCV002698105] Chr22:49918867 [GRCh38]
Chr22:50312515 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.276G>C (p.Gln92His) single nucleotide variant Inborn genetic diseases [RCV002645201] Chr22:49919793 [GRCh38]
Chr22:50313441 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.916G>A (p.Glu306Lys) single nucleotide variant Inborn genetic diseases [RCV002744513] Chr22:49925464 [GRCh38]
Chr22:50319112 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.764C>T (p.Thr255Met) single nucleotide variant Inborn genetic diseases [RCV002855170] Chr22:49923309 [GRCh38]
Chr22:50316957 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.65C>T (p.Pro22Leu) single nucleotide variant Inborn genetic diseases [RCV002936858] Chr22:49918834 [GRCh38]
Chr22:50312482 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.400G>A (p.Gly134Ser) single nucleotide variant Inborn genetic diseases [RCV002670350] Chr22:49920232 [GRCh38]
Chr22:50313880 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.773A>C (p.Glu258Ala) single nucleotide variant Inborn genetic diseases [RCV002652634] Chr22:49924360 [GRCh38]
Chr22:50318008 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.354G>T (p.Trp118Cys) single nucleotide variant Inborn genetic diseases [RCV003299408] Chr22:49920186 [GRCh38]
Chr22:50313834 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.214G>A (p.Glu72Lys) single nucleotide variant Inborn genetic diseases [RCV003186462] Chr22:49919731 [GRCh38]
Chr22:50313379 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.593-181G>T single nucleotide variant Inborn genetic diseases [RCV003179121] Chr22:49922431 [GRCh38]
Chr22:50316079 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.400G>T (p.Gly134Cys) single nucleotide variant Inborn genetic diseases [RCV003203528] Chr22:49920232 [GRCh38]
Chr22:50313880 [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
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_024324.5(CRELD2):c.742A>G (p.Lys248Glu) single nucleotide variant Inborn genetic diseases [RCV003345134] Chr22:49923287 [GRCh38]
Chr22:50316935 [GRCh37]
Chr22:22q13.33		 likely benign
NM_024324.5(CRELD2):c.652G>A (p.Glu218Lys) single nucleotide variant Inborn genetic diseases [RCV003366398] Chr22:49922671 [GRCh38]
Chr22:50316319 [GRCh37]
Chr22:22q13.33		 uncertain significance
NM_024324.5(CRELD2):c.1056C>A (p.Asp352Glu) single nucleotide variant Inborn genetic diseases [RCV003385635] Chr22:49927301 [GRCh38]
Chr22:50320949 [GRCh37]
Chr22:22q13.33		 uncertain significance
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(chr22:49839613-50740220)x3 copy number gain not provided [RCV003485248] Chr22:49839613..50740220 [GRCh37]
Chr22:22q13.33		 uncertain significance
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
NM_024324.5(CRELD2):c.621G>A (p.Ser207=) single nucleotide variant not provided [RCV003433328] Chr22:49922640 [GRCh38]
Chr22:50316288 [GRCh37]
Chr22:22q13.33		 likely benign
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
NM_024324.5(CRELD2):c.747C>T (p.Asn249=) single nucleotide variant not provided [RCV003437673] Chr22:49923292 [GRCh38]
Chr22:50316940 [GRCh37]
Chr22:22q13.33		 likely benign
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
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(chr22:48218869-51197838)x1 copy number loss not specified [RCV003986172] Chr22:48218869..51197838 [GRCh37]
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(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [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 22q13.32-13.33(chr22:49103529-51220722)x1 copy number loss not provided [RCV003885498] Chr22:49103529..51220722 [GRCh37]
Chr22:22q13.32-13.33		 pathogenic
GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1 copy number loss not provided [RCV003885499] Chr22:49479980..51304566 [GRCh37]
Chr22:22q13.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2876
Count of miRNA genes:897
Interacting mature miRNAs:1107
Transcripts:ENST00000328268, ENST00000403427, ENST00000404488, ENST00000407217, ENST00000444954, ENST00000450207, ENST00000462253, ENST00000482956, ENST00000483652, ENST00000487969, ENST00000498354
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
RH45712  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,320,905 - 50,321,034UniSTSGRCh37
Build 362248,706,909 - 48,707,038RGDNCBI36
Celera2234,242,328 - 34,242,457RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,267,626 - 33,267,755UniSTS
GeneMap99-GB4 RH Map22173.16UniSTS
STS-H99879  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372250,320,942 - 50,321,081UniSTSGRCh37
Build 362248,706,946 - 48,707,085RGDNCBI36
Celera2234,242,365 - 34,242,504RGD
Cytogenetic Map22q13.33UniSTS
HuRef2233,267,663 - 33,267,802UniSTS
GeneMap99-GB4 RH Map22172.23UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2401 2315 1628 542 1429 383 3724 1416 3216 294 1417 1578 170 1202 2213 2
Low 35 670 97 82 521 82 631 778 501 124 35 32 2 575 2 2
Below cutoff 1 1 1 10 1 6 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001135101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001284318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ968414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL713788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI462292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ003113 (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
  DQ470676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ470677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ470678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ470679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ470680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328268   ⟹   ENSP00000332223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,918,634 - 49,927,537 (+)Ensembl
RefSeq Acc Id: ENST00000403427   ⟹   ENSP00000384111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,918,733 - 49,927,534 (+)Ensembl
RefSeq Acc Id: ENST00000404488   ⟹   ENSP00000383938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,918,635 - 49,927,540 (+)Ensembl
RefSeq Acc Id: ENST00000407217   ⟹   ENSP00000386034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,918,733 - 49,927,534 (+)Ensembl
RefSeq Acc Id: ENST00000444954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,921,584 - 49,925,129 (+)Ensembl
RefSeq Acc Id: ENST00000450207   ⟹   ENSP00000387769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,918,167 - 49,922,707 (+)Ensembl
RefSeq Acc Id: ENST00000462253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,921,307 - 49,923,264 (+)Ensembl
RefSeq Acc Id: ENST00000482956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,918,770 - 49,923,400 (+)Ensembl
RefSeq Acc Id: ENST00000483652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,918,733 - 49,926,505 (+)Ensembl
RefSeq Acc Id: ENST00000487969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,923,210 - 49,927,528 (+)Ensembl
RefSeq Acc Id: ENST00000498354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2249,921,289 - 49,922,033 (+)Ensembl
RefSeq Acc Id: NM_001135101   ⟹   NP_001128573
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,927,537 (+)NCBI
GRCh372250,312,283 - 50,321,188 (+)NCBI
Celera2234,233,563 - 34,242,609 (+)RGD
HuRef2233,259,123 - 33,267,909 (+)NCBI
CHM1_12250,271,038 - 50,279,682 (+)NCBI
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001284317   ⟹   NP_001271246
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,927,537 (+)NCBI
HuRef2233,259,123 - 33,267,909 (+)NCBI
CHM1_12250,271,038 - 50,279,682 (+)NCBI
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001284318   ⟹   NP_001271247
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,927,537 (+)NCBI
HuRef2233,259,123 - 33,267,909 (+)NCBI
CHM1_12250,271,038 - 50,279,682 (+)NCBI
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024324   ⟹   NP_077300
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,927,537 (+)NCBI
GRCh372250,312,283 - 50,321,188 (+)NCBI
Build 362248,698,348 - 48,707,180 (+)NCBI Archive
Celera2234,233,563 - 34,242,609 (+)RGD
HuRef2233,259,123 - 33,267,909 (+)NCBI
CHM1_12250,271,038 - 50,279,682 (+)NCBI
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBI
Sequence:
RefSeq Acc Id: NR_104295
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,927,537 (+)NCBI
HuRef2233,259,123 - 33,267,909 (+)NCBI
CHM1_12250,271,038 - 50,279,682 (+)NCBI
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261737   ⟹   XP_005261794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,927,537 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005261738   ⟹   XP_005261795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,926,568 (+)NCBI
GRCh372250,312,283 - 50,321,188 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011530372   ⟹   XP_011528674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,921,994 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054325908   ⟹   XP_054181883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,423,116 - 50,432,198 (+)NCBI
RefSeq Acc Id: XM_054325909   ⟹   XP_054181884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,423,116 - 50,431,050 (+)NCBI
RefSeq Acc Id: XM_054325910   ⟹   XP_054181885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02250,423,116 - 50,426,476 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001128573 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271246 (Get FASTA)   NCBI Sequence Viewer  
  NP_001271247 (Get FASTA)   NCBI Sequence Viewer  
  NP_077300 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261794 (Get FASTA)   NCBI Sequence Viewer  
  XP_005261795 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528674 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181884 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181885 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH02894 (Get FASTA)   NCBI Sequence Viewer  
  AAH50675 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88721 (Get FASTA)   NCBI Sequence Viewer  
  ABF06668 (Get FASTA)   NCBI Sequence Viewer  
  ABF06669 (Get FASTA)   NCBI Sequence Viewer  
  ABF06670 (Get FASTA)   NCBI Sequence Viewer  
  ABF06671 (Get FASTA)   NCBI Sequence Viewer  
  ABF06672 (Get FASTA)   NCBI Sequence Viewer  
  CAH56485 (Get FASTA)   NCBI Sequence Viewer  
  CAI91316 (Get FASTA)   NCBI Sequence Viewer  
  EAW73483 (Get FASTA)   NCBI Sequence Viewer  
  EAW73484 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332223
  ENSP00000332223.4
  ENSP00000383938
  ENSP00000383938.3
  ENSP00000384111
  ENSP00000384111.3
  ENSP00000386034
  ENSP00000386034.3
  ENSP00000387769
  ENSP00000387769.1
GenBank Protein Q6UXH1 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001128573   ⟸   NM_001135101
- Peptide Label: isoform a precursor
- UniProtKB: Q6UXH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_077300   ⟸   NM_024324
- Peptide Label: isoform b precursor
- UniProtKB: Q86UC0 (UniProtKB/Swiss-Prot),   Q4W0V0 (UniProtKB/Swiss-Prot),   A5GZA6 (UniProtKB/Swiss-Prot),   A5GZA5 (UniProtKB/Swiss-Prot),   A5GZA4 (UniProtKB/Swiss-Prot),   A5GZA3 (UniProtKB/Swiss-Prot),   A5GZA2 (UniProtKB/Swiss-Prot),   Q9BU47 (UniProtKB/Swiss-Prot),   Q6UXH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005261794   ⟸   XM_005261737
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005261795   ⟸   XM_005261738
- Peptide Label: isoform X2
- UniProtKB: Q6UXH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271247   ⟸   NM_001284318
- Peptide Label: isoform d precursor
- UniProtKB: Q6UXH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001271246   ⟸   NM_001284317
- Peptide Label: isoform c precursor
- UniProtKB: Q6UXH1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528674   ⟸   XM_011530372
- Peptide Label: isoform X3
- UniProtKB: A6PWM2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000387769   ⟸   ENST00000450207
RefSeq Acc Id: ENSP00000384111   ⟸   ENST00000403427
RefSeq Acc Id: ENSP00000383938   ⟸   ENST00000404488
RefSeq Acc Id: ENSP00000332223   ⟸   ENST00000328268
RefSeq Acc Id: ENSP00000386034   ⟸   ENST00000407217
RefSeq Acc Id: XP_054181883   ⟸   XM_054325908
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181884   ⟸   XM_054325909
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054181885   ⟸   XM_054325910
- Peptide Label: isoform X3
Protein Domains
EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6UXH1-F1-model_v2 AlphaFold Q6UXH1 1-353 view protein structure

Promoters
RGD ID:6799776
Promoter ID:HG_KWN:43322
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000404488,   NM_024324,   OTTHUMT00000317416,   UC003BIZ.2,   UC010HAJ.1,   UC010HAK.1,   UC010HAM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362248,697,911 - 48,698,411 (+)MPROMDB
RGD ID:6799775
Promoter ID:HG_KWN:43324
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000317417,   OTTHUMT00000317418,   OTTHUMT00000317419
Position:
Human AssemblyChrPosition (strand)Source
Build 362248,700,786 - 48,701,367 (+)MPROMDB
RGD ID:6799773
Promoter ID:HG_KWN:43325
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000317415
Position:
Human AssemblyChrPosition (strand)Source
Build 362248,703,316 - 48,704,137 (+)MPROMDB
RGD ID:13604488
Promoter ID:EPDNEW_H28428
Type:initiation region
Name:CRELD2_1
Description:cysteine rich with EGF like domains 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28429  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,634 - 49,918,694EPDNEW
RGD ID:13604490
Promoter ID:EPDNEW_H28429
Type:initiation region
Name:CRELD2_2
Description:cysteine rich with EGF like domains 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28428  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382249,918,812 - 49,918,872EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28150 AgrOrtholog
COSMIC CRELD2 COSMIC
Ensembl Genes ENSG00000184164 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000328268 ENTREZGENE
  ENST00000328268.9 UniProtKB/Swiss-Prot
  ENST00000403427 ENTREZGENE
  ENST00000403427.3 UniProtKB/Swiss-Prot
  ENST00000404488 ENTREZGENE
  ENST00000404488.7 UniProtKB/Swiss-Prot
  ENST00000407217 ENTREZGENE
  ENST00000407217.7 UniProtKB/Swiss-Prot
  ENST00000450207 ENTREZGENE
  ENST00000450207.5 UniProtKB/TrEMBL
  ENST00000483652 ENTREZGENE
Gene3D-CATH Laminin UniProtKB/Swiss-Prot
GTEx ENSG00000184164 GTEx
HGNC ID HGNC:28150 ENTREZGENE
Human Proteome Map CRELD2 Human Proteome Map
InterPro EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot
  EGF_Ca-bd_CS UniProtKB/Swiss-Prot
  Furin_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79174 UniProtKB/Swiss-Prot
NCBI Gene 79174 ENTREZGENE
OMIM 607171 OMIM
PANTHER PROTEIN DISULFIDE-ISOMERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STABILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EGF_CA UniProtKB/Swiss-Prot
PharmGKB PA142672079 PharmGKB
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot
  EGF_LAM_1 UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot
  SM00261 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5GZA2 ENTREZGENE
  A5GZA3 ENTREZGENE
  A5GZA4 ENTREZGENE
  A5GZA5 ENTREZGENE
  A5GZA6 ENTREZGENE
  A6PWM2 ENTREZGENE, UniProtKB/TrEMBL
  CREL2_HUMAN UniProtKB/Swiss-Prot
  Q4W0V0 ENTREZGENE
  Q6UXH1 ENTREZGENE
  Q86UC0 ENTREZGENE
  Q9BU47 ENTREZGENE
UniProt Secondary A5GZA2 UniProtKB/Swiss-Prot
  A5GZA3 UniProtKB/Swiss-Prot
  A5GZA4 UniProtKB/Swiss-Prot
  A5GZA5 UniProtKB/Swiss-Prot
  A5GZA6 UniProtKB/Swiss-Prot
  Q4W0V0 UniProtKB/Swiss-Prot
  Q86UC0 UniProtKB/Swiss-Prot
  Q9BU47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 CRELD2  cysteine rich with EGF like domains 2    cysteine rich with EGF-like domains 2  Symbol and/or name change 5135510 APPROVED
2015-11-10 CRELD2  cysteine rich with EGF-like domains 2    cysteine-rich with EGF-like domains 2  Symbol and/or name change 5135510 APPROVED