DERL3 (derlin 3) - Rat Genome Database

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Gene: DERL3 (derlin 3) Homo sapiens
Analyze
Symbol: DERL3
Name: derlin 3
RGD ID: 1353725
HGNC Page HGNC:14236
Description: Enables signal recognition particle binding activity. Involved in several processes, including ERAD pathway; negative regulation of retrograde protein transport, ER to cytosol; and protein N-linked glycosylation via asparagine. Located in endoplasmic reticulum membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C22orf14; degradation in endoplasmic reticulum protein 3; Der1-like domain family, member 3; der1-like protein 3; derlin-3; DERtrin 3; DERtrin-3; IZP6; LLN2; MGC71803
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
GRCh382223,834,503 - 23,839,006 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2223,834,503 - 23,839,128 (-)EnsemblGRCh38hg38GRCh38
GRCh372224,176,690 - 24,181,193 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,506,690 - 22,511,201 (-)NCBINCBI36Build 36hg18NCBI36
Build 342222,501,245 - 22,505,755NCBI
Celera228,015,749 - 8,020,256 (-)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,164,611 - 7,169,120 (-)NCBIHuRef
CHM1_12224,188,905 - 24,193,409 (-)NCBICHM1_1
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
1H-pyrazole  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
aldehydo-D-glucose  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
ciguatoxin CTX1B  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
cyclosporin A  (ISO)
D-glucose  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
diclofenac  (ISO)
dioxygen  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
folic acid  (ISO)
fructose  (ISO)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glucose  (ISO)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
luteolin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (ISO)
resveratrol  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
streptozocin  (ISO)
sunitinib  (EXP)
tebuconazole  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
XL147  (ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:10591208   PMID:14702039   PMID:15215855   PMID:15461802   PMID:15489334   PMID:16341674   PMID:16449189   PMID:16449191   PMID:16449193   PMID:18216283   PMID:19135427  
PMID:20435896   PMID:21873635   PMID:22013210   PMID:22607976   PMID:23382691   PMID:24699711   PMID:25660456   PMID:26565908   PMID:28713959   PMID:29743537   PMID:31862624   PMID:32296183  
PMID:32866644   PMID:33845483   PMID:34186245   PMID:36372158  


Genomics

Comparative Map Data
DERL3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382223,834,503 - 23,839,006 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2223,834,503 - 23,839,128 (-)EnsemblGRCh38hg38GRCh38
GRCh372224,176,690 - 24,181,193 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,506,690 - 22,511,201 (-)NCBINCBI36Build 36hg18NCBI36
Build 342222,501,245 - 22,505,755NCBI
Celera228,015,749 - 8,020,256 (-)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,164,611 - 7,169,120 (-)NCBIHuRef
CHM1_12224,188,905 - 24,193,409 (-)NCBICHM1_1
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBIT2T-CHM13v2.0
Derl3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391075,729,232 - 75,731,775 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1075,729,247 - 75,731,775 (+)EnsemblGRCm39 Ensembl
GRCm381075,893,398 - 75,895,941 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1075,893,413 - 75,895,941 (+)EnsemblGRCm38mm10GRCm38
MGSCv371075,356,143 - 75,358,686 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361075,337,114 - 75,339,657 (+)NCBIMGSCv36mm8
Celera1076,938,087 - 76,940,630 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1038.61NCBI
Derl3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82012,753,926 - 12,766,478 (-)NCBIGRCr8
mRatBN7.22012,754,490 - 12,768,454 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2012,763,543 - 12,767,027 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2013,471,091 - 13,473,652 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02012,832,012 - 12,834,573 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02013,303,805 - 13,306,366 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02013,692,102 - 13,707,645 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2013,704,314 - 13,706,205 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02015,858,297 - 15,863,183 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42013,163,287 - 13,165,848 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2014,255,751 - 14,258,312 (-)NCBICelera
Cytogenetic Map20p12NCBI
Derl3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554558,415,839 - 8,421,762 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554558,415,868 - 8,418,753 (+)NCBIChiLan1.0ChiLan1.0
DERL3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22333,565,313 - 33,570,562 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12236,301,966 - 36,307,067 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0224,589,448 - 4,594,628 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12222,673,908 - 22,678,451 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2222,673,908 - 22,678,444 (-)Ensemblpanpan1.1panPan2
DERL3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12628,688,307 - 28,690,400 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2628,688,106 - 28,690,400 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2627,761,400 - 27,763,725 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02630,093,061 - 30,095,386 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2630,093,129 - 30,095,386 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12628,174,380 - 28,176,705 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02627,792,314 - 27,794,639 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02628,780,177 - 28,785,974 (+)NCBIUU_Cfam_GSD_1.0
Derl3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118141,478,848 - 141,482,070 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366191,271,797 - 1,275,214 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366191,271,980 - 1,275,212 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DERL3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1449,871,218 - 49,877,672 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11449,871,077 - 49,875,022 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,313,332 - 53,315,464 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DERL3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1196,944,291 - 6,949,948 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl196,947,403 - 6,949,845 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666100423,257 - 428,076 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Derl3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474710,357,627 - 10,359,779 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474710,357,560 - 10,359,779 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DERL3
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 conflicting interpretations of pathogenicity|uncertain significance|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(chr22:21457690-24220231)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 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 copy number gain See cases [RCV000053176] Chr22:23354221..24541945 [GRCh38]
Chr22:23696408..24937913 [GRCh37]
Chr22:22026408..23267913 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
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 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23		 uncertain significance
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 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23		 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(chr22:21454461-24247296)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 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
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 22q11.23(chr22:23787850-23954973)x3 copy number gain See cases [RCV000137648] Chr22:23787850..23954973 [GRCh38]
Chr22:24130037..24297160 [GRCh37]
Chr22:22460037..22627160 [NCBI36]
Chr22:22q11.23		 uncertain significance
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 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23804407-24669609)x3 copy number gain See cases [RCV000137178] Chr22:23804407..24669609 [GRCh38]
Chr22:24146594..25065576 [GRCh37]
Chr22:22476594..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23		 uncertain significance
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 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
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 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23		 likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23		 likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23792169-23850856)x3 copy number gain See cases [RCV000143579] Chr22:23792169..23850856 [GRCh38]
Chr22:24134356..24193043 [GRCh37]
Chr22:22464356..22523043 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23		 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 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23		 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 22q11.23(chr22:23950632-24276233)x4 copy number gain See cases [RCV000240514] Chr22:23950632..24276233 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3 copy number gain See cases [RCV000240234] Chr22:22988879..24276233 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:24132414-24256480)x3 copy number gain See cases [RCV000240452] Chr22:24132414..24256480 [GRCh37]
Chr22:22q11.23		 uncertain significance
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 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23		 uncertain significance
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 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23		 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 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23		 uncertain significance
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23		 likely 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
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:23739611-24544632)x4 copy number gain See cases [RCV000448428] Chr22:23739611..24544632 [GRCh37]
Chr22:22q11.23		 pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23		 likely pathogenic
NM_003073.4(SMARCB1):c.987-?_*338dup510 duplication Rhabdoid tumor predisposition syndrome 1 [RCV000229760] Chr22:23833572..23834518 [GRCh38]
Chr22:24175759..24176705 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_003073.4(SMARCB1):c.-207-?_*338dup1703 duplication Rhabdoid tumor predisposition syndrome 1 [RCV000229963] Chr22:23786963..23834518 [GRCh38]
Chr22:24129150..24176705 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:24134807-24271732)x3 copy number gain See cases [RCV000510555] Chr22:24134807..24271732 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:24174144-24261143)x3 copy number gain See cases [RCV000510701] Chr22:24174144..24261143 [GRCh37]
Chr22:22q11.23		 uncertain significance
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 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:24174144-24258392)x3 copy number gain See cases [RCV000511524] Chr22:24174144..24258392 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1 copy number loss See cases [RCV000511065] Chr22:23690387..24666092 [GRCh37]
Chr22:22q11.23		 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 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23		 uncertain significance
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 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23		 likely 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 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23		 likely 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 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_003073.5(SMARCB1):c.*362T>G single nucleotide variant not provided [RCV001571322] Chr22:23834542 [GRCh38]
Chr22:24176729 [GRCh37]
Chr22:22q11.23		 likely benign
NC_000022.11:g.23774226_23859697dup duplication Intellectual disability, autosomal dominant 15 [RCV001591654] Chr22:23774226..23859697 [GRCh38]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23		 likely pathogenic
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001031059] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23		 uncertain significance
NC_000022.10:g.(?_24129357)_(24836024_?)del deletion not provided [RCV001031302] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:24134356-24354513)x3 copy number gain not provided [RCV000848818] Chr22:24134356..24354513 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
Single allele duplication not provided [RCV000845076] Chr22:24133746..24257275 [GRCh37]
Chr22:22q11.23		 not provided
GRCh37/hg19 22q11.23(chr22:24173393-24261143)x3 copy number gain not provided [RCV000845931] Chr22:24173393..24261143 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:24171304-24258403)x3 copy number gain not provided [RCV000849745] Chr22:24171304..24258403 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23		 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 22q11.22-11.23(chr22:22893189-24177119) copy number loss Schwannomatosis 1 [RCV003236733] Chr22:22893189..24177119 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3 copy number gain not provided [RCV002473547] Chr22:22997929..24995256 [GRCh37]
Chr22:22q11.22-11.23		 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
NM_003073.5(SMARCB1):c.*314CAGGTCATGTTCAATTTCTTCAA[1] microsatellite not provided [RCV001654522] Chr22:23834491..23834513 [GRCh38]
Chr22:24176678..24176700 [GRCh37]
Chr22:22q11.23		 benign
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 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely 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 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
Single allele duplication Epilepsy [RCV001293375] Chr22:23699269..24992266 [GRCh37]
Chr22:22q11.23		 pathogenic
NC_000022.10:g.(?_24129357)_(24836024_?)dup duplication not provided [RCV001324555] Chr22:24129357..24836024 [GRCh37]
Chr22:22q11.23		 uncertain significance
NC_000022.10:g.(?_23915453)_(24921762_?)dup duplication not provided [RCV003120543] Chr22:23915453..24921762 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.531G>A (p.Ala177=) single nucleotide variant not provided [RCV001727217] Chr22:23837147 [GRCh38]
Chr22:24179334 [GRCh37]
Chr22:22q11.23		 likely benign
GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3 copy number gain not provided [RCV001795844] Chr22:23689960..25000632 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:23166334-24237343)x3 copy number gain Generalized-onset seizure [RCV001801186] Chr22:23166334..24237343 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:24134356-24271818)x3 copy number gain not provided [RCV001827619] Chr22:24134356..24271818 [GRCh37]
Chr22:22q11.23		 uncertain significance
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
NC_000022.10:g.(?_23915453)_(24237293_?)del deletion Agammaglobulinemia 2, autosomal recessive [RCV001941512] Chr22:23915453..24237293 [GRCh37]
Chr22:22q11.23		 uncertain significance
NC_000022.10:g.(?_24130008)_(24237293_?)dup duplication not provided [RCV003113205] Chr22:24130008..24237293 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3 copy number gain Unilateral renal agenesis [RCV002282735] Chr22:23652519..25059631 [GRCh37]
Chr22:22q11.23		 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
NM_003073.5(SMARCB1):c.*2684G>A single nucleotide variant not provided [RCV002293064] Chr22:23836864 [GRCh38]
Chr22:24179051 [GRCh37]
Chr22:22q11.23		 benign|likely benign
NM_001002862.3(DERL3):c.316G>T (p.Val106Phe) single nucleotide variant not specified [RCV004305910] Chr22:23838363 [GRCh38]
Chr22:24180550 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.187T>G (p.Phe63Val) single nucleotide variant not specified [RCV004310737] Chr22:23838610 [GRCh38]
Chr22:24180797 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3 copy number gain not provided [RCV002472515] Chr22:23650201..24992266 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:24134808-24271732)x3 copy number gain not provided [RCV002472764] Chr22:24134808..24271732 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3 copy number gain not provided [RCV002473884] Chr22:23650872..25002483 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3 copy number gain not provided [RCV002474578] Chr22:22953515..24995256 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
NM_001002862.3(DERL3):c.477G>A (p.Met159Ile) single nucleotide variant not specified [RCV004088156] Chr22:23837705 [GRCh38]
Chr22:24179892 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.562G>A (p.Val188Ile) single nucleotide variant not specified [RCV004088211] Chr22:23837116 [GRCh38]
Chr22:24179303 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.602C>G (p.Thr201Ser) single nucleotide variant not specified [RCV004181162] Chr22:23837076 [GRCh38]
Chr22:24179263 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.206T>G (p.Phe69Cys) single nucleotide variant not specified [RCV004140818] Chr22:23838591 [GRCh38]
Chr22:24180778 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.212T>G (p.Phe71Cys) single nucleotide variant not specified [RCV004240834] Chr22:23838585 [GRCh38]
Chr22:24180772 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.226C>G (p.Leu76Val) single nucleotide variant not specified [RCV004243893] Chr22:23838571 [GRCh38]
Chr22:24180758 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.425A>G (p.Asn142Ser) single nucleotide variant not specified [RCV004217611] Chr22:23837757 [GRCh38]
Chr22:24179944 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.209G>T (p.Ser70Ile) single nucleotide variant not specified [RCV004312373] Chr22:23838588 [GRCh38]
Chr22:24180775 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV003329499] Chr22:23658260..25114888 [GRCh37]
Chr22:22q11.23		 pathogenic
NM_001002862.3(DERL3):c.316G>A (p.Val106Ile) single nucleotide variant not specified [RCV004349532] Chr22:23838363 [GRCh38]
Chr22:24180550 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3 copy number gain not provided [RCV003485241] Chr22:23690388..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
NM_003073.5(SMARCB1):c.*2799G>A single nucleotide variant not provided [RCV003437521] Chr22:23836979 [GRCh38]
Chr22:24179166 [GRCh37]
Chr22:22q11.23		 benign
GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3 copy number gain not provided [RCV003457365] Chr22:22989453..25019883 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:24134356-24198572)x3 copy number gain not specified [RCV003986189] Chr22:24134356..24198572 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3 copy number gain See cases [RCV004442788] Chr22:23652549..25002659 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3 copy number gain not provided [RCV004442791] Chr22:21804597..24629406 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
NM_001002862.3(DERL3):c.379A>G (p.Met127Val) single nucleotide variant not specified [RCV004371143] Chr22:23837803 [GRCh38]
Chr22:24179990 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3 copy number gain not provided [RCV004442850] Chr22:23702548..25008068 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.352T>G (p.Phe118Val) single nucleotide variant not specified [RCV004613969] Chr22:23837830 [GRCh38]
Chr22:24180017 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.221A>T (p.Asn74Ile) single nucleotide variant not specified [RCV004613971] Chr22:23838576 [GRCh38]
Chr22:24180763 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.147C>G (p.Phe49Leu) single nucleotide variant not specified [RCV004613968] Chr22:23838723 [GRCh38]
Chr22:24180910 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.248G>C (p.Arg83Pro) single nucleotide variant not specified [RCV004613970] Chr22:23838431 [GRCh38]
Chr22:24180618 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_001002862.3(DERL3):c.*2015G>A single nucleotide variant not provided [RCV004722555] Chr22:23834854 [GRCh38]
Chr22:24177041 [GRCh37]
Chr22:22q11.23		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4359
Count of miRNA genes:968
Interacting mature miRNAs:1214
Transcripts:ENST00000290730, ENST00000318109, ENST00000404056, ENST00000406855, ENST00000464023, ENST00000464034, ENST00000464110, ENST00000476077, ENST00000488272, ENST00000493596
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
407155985GWAS804961_Hserum non-albumin protein measurement QTL GWAS804961 (human)1e-15serum IgG glycosylation measurementserum globulin level (CMO:0002399)222383773523837736Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407102869GWAS751845_Helectrocardiography QTL GWAS751845 (human)1e-09electrocardiography222383609223836093Human
407146236GWAS795212_Hejection fraction measurement QTL GWAS795212 (human)7e-11ejection fraction measurementejection fraction (CMO:0000180)222383609223836093Human
406899417GWAS548393_Hheart failure QTL GWAS548393 (human)8e-11heart failure222383609223836093Human
407200988GWAS849964_Hleft ventricular ejection fraction measurement QTL GWAS849964 (human)1e-08left ventricular ejection fraction measurementejection fraction (CMO:0000180)222383609223836093Human
407146462GWAS795438_Hleft ventricular systolic function measurement QTL GWAS795438 (human)9e-11left ventricular systolic function measurement222383609223836093Human

Markers in Region
RH80678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,176,704 - 24,176,933UniSTSGRCh37
Build 362222,506,704 - 22,506,933RGDNCBI36
Celera228,015,763 - 8,015,992RGD
Cytogenetic Map22q11UniSTS
Cytogenetic Map22q11.23UniSTS
HuRef227,164,625 - 7,164,854UniSTS
GeneMap99-GB4 RH Map2248.17UniSTS
G66776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,180,167 - 24,180,442UniSTSGRCh37
Build 362222,510,167 - 22,510,442RGDNCBI36
Celera228,019,224 - 8,019,499RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,168,088 - 7,168,363UniSTS
SHGC-107450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,179,646 - 24,179,947UniSTSGRCh37
Build 362222,509,646 - 22,509,947RGDNCBI36
Celera228,018,704 - 8,019,005RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,167,568 - 7,167,869UniSTS
TNG Radiation Hybrid Map223400.0UniSTS
SGC32593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,179,862 - 24,179,987UniSTSGRCh37
Build 362222,509,862 - 22,509,987RGDNCBI36
Celera228,018,920 - 8,019,045RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,167,784 - 7,167,909UniSTS
GeneMap99-GB4 RH Map2249.49UniSTS
Whitehead-RH Map2261.0UniSTS
NCBI RH Map2267.6UniSTS
A006E25  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,176,595 - 24,176,725UniSTSGRCh37
GRCh372224,176,595 - 24,176,702UniSTSGRCh37
Build 362222,506,595 - 22,506,702RGDNCBI36
Celera228,015,654 - 8,015,784UniSTS
Celera228,015,654 - 8,015,761RGD
Cytogenetic Map22q11UniSTS
Cytogenetic Map22q11.23UniSTS
HuRef227,164,516 - 7,164,646UniSTS
HuRef227,164,516 - 7,164,623UniSTS
GeneMap99-GB4 RH Map2272.18UniSTS
G20745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,176,595 - 24,176,725UniSTSGRCh37
GRCh372224,176,595 - 24,176,702UniSTSGRCh37
Build 362222,506,595 - 22,506,702RGDNCBI36
Celera228,015,654 - 8,015,784UniSTS
Celera228,015,654 - 8,015,761RGD
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11UniSTS
HuRef227,164,516 - 7,164,623UniSTS
HuRef227,164,516 - 7,164,646UniSTS
MARC_9679-9680:996688523:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,179,106 - 24,179,951UniSTSGRCh37
Celera228,018,164 - 8,019,009UniSTS
HuRef227,167,028 - 7,167,873UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2429 2787 2251 4951 1716 2322 4 616 1943 457 2260 7271 6452 51 3707 1 848 1724 1596 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001002862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA985493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB049213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL389876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW135031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM792257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA313370 (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
  CR456372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T79532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000290730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,834,503 - 23,839,128 (-)Ensembl
Ensembl Acc Id: ENST00000318109   ⟹   ENSP00000315303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,834,503 - 23,839,006 (-)Ensembl
Ensembl Acc Id: ENST00000404056   ⟹   ENSP00000384473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,834,503 - 23,839,006 (-)Ensembl
Ensembl Acc Id: ENST00000406855   ⟹   ENSP00000384744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,834,503 - 23,839,006 (-)Ensembl
Ensembl Acc Id: ENST00000464023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,834,503 - 23,836,514 (-)Ensembl
Ensembl Acc Id: ENST00000464034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,836,734 - 23,837,698 (-)Ensembl
Ensembl Acc Id: ENST00000464110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,836,767 - 23,839,004 (-)Ensembl
Ensembl Acc Id: ENST00000476077   ⟹   ENSP00000419399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,836,734 - 23,839,012 (-)Ensembl
Ensembl Acc Id: ENST00000488272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,836,734 - 23,838,203 (-)Ensembl
Ensembl Acc Id: ENST00000493596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,836,465 - 23,837,684 (-)Ensembl
RefSeq Acc Id: NM_001002862   ⟹   NP_001002862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
GRCh372224,176,690 - 24,181,430 (-)NCBI
Build 362222,506,690 - 22,511,201 (-)NCBI Archive
Celera228,015,749 - 8,020,256 (-)RGD
HuRef227,164,611 - 7,169,120 (-)RGD
CHM1_12224,188,905 - 24,193,409 (-)NCBI
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001135751   ⟹   NP_001129223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
GRCh372224,176,690 - 24,181,430 (-)NCBI
Celera228,015,749 - 8,020,256 (-)RGD
HuRef227,164,611 - 7,169,120 (-)RGD
CHM1_12224,188,905 - 24,193,409 (-)NCBI
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363072   ⟹   NP_001350001
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198440   ⟹   NP_940842
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
GRCh372224,176,690 - 24,181,430 (-)NCBI
Build 362222,506,690 - 22,511,201 (-)NCBI Archive
Celera228,015,749 - 8,020,256 (-)RGD
HuRef227,164,611 - 7,169,120 (-)RGD
CHM1_12224,188,905 - 24,193,409 (-)NCBI
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530505   ⟹   XP_011528807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029078   ⟹   XP_016884567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441594   ⟹   XP_047297550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
RefSeq Acc Id: XM_047441595   ⟹   XP_047297551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
RefSeq Acc Id: XM_047441596   ⟹   XP_047297552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
RefSeq Acc Id: XM_047441597   ⟹   XP_047297553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,834,503 - 23,839,006 (-)NCBI
RefSeq Acc Id: XM_054326125   ⟹   XP_054182100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
RefSeq Acc Id: XM_054326126   ⟹   XP_054182101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
RefSeq Acc Id: XM_054326127   ⟹   XP_054182102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
RefSeq Acc Id: XM_054326128   ⟹   XP_054182103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
RefSeq Acc Id: XM_054326129   ⟹   XP_054182104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
RefSeq Acc Id: XM_054326130   ⟹   XP_054182105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02224,281,689 - 24,286,190 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001002862 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129223 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350001 (Get FASTA)   NCBI Sequence Viewer  
  NP_940842 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528807 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884567 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297550 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297551 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297552 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182100 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182101 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182102 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182103 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182105 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185432 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185433 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185434 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185437 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH57830 (Get FASTA)   NCBI Sequence Viewer  
  BAB68409 (Get FASTA)   NCBI Sequence Viewer  
  BAC04919 (Get FASTA)   NCBI Sequence Viewer  
  BAC86311 (Get FASTA)   NCBI Sequence Viewer  
  CAG30258 (Get FASTA)   NCBI Sequence Viewer  
  EAW59609 (Get FASTA)   NCBI Sequence Viewer  
  EAW59610 (Get FASTA)   NCBI Sequence Viewer  
  EAW59611 (Get FASTA)   NCBI Sequence Viewer  
  EAW59612 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000315303
  ENSP00000315303.8
  ENSP00000384473.1
  ENSP00000384744
  ENSP00000384744.3
  ENSP00000419399
  ENSP00000419399.1
  ENSP00000483251.2
  ENSP00000483693.2
  ENSP00000485763.1
  ENSP00000486587.1
GenBank Protein Q96Q80 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_940842   ⟸   NM_198440
- Peptide Label: isoform 3
- UniProtKB: Q96Q80 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001002862   ⟸   NM_001002862
- Peptide Label: isoform 2
- UniProtKB: Q96Q80 (UniProtKB/Swiss-Prot),   Q6ZUB5 (UniProtKB/Swiss-Prot),   Q6PEX0 (UniProtKB/Swiss-Prot),   Q6ICJ6 (UniProtKB/Swiss-Prot),   F2Z3B6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129223   ⟸   NM_001135751
- Peptide Label: isoform 1
- UniProtKB: Q96Q80 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528807   ⟸   XM_011530505
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884567   ⟸   XM_017029078
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001350001   ⟸   NM_001363072
- Peptide Label: isoform 4
Ensembl Acc Id: ENSP00000384473   ⟸   ENST00000404056
Ensembl Acc Id: ENSP00000384744   ⟸   ENST00000406855
Ensembl Acc Id: ENSP00000315303   ⟸   ENST00000318109
Ensembl Acc Id: ENSP00000419399   ⟸   ENST00000476077
RefSeq Acc Id: XP_047297552   ⟸   XM_047441596
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047297553   ⟸   XM_047441597
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047297551   ⟸   XM_047441595
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047297550   ⟸   XM_047441594
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054182103   ⟸   XM_054326128
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054182105   ⟸   XM_054326130
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054182104   ⟸   XM_054326129
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054182102   ⟸   XM_054326127
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054182100   ⟸   XM_054326125
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182101   ⟸   XM_054326126
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96Q80-F1-model_v2 AlphaFold Q96Q80 1-235 view protein structure

Promoters
RGD ID:6799809
Promoter ID:HG_KWN:41968
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000319913
Position:
Human AssemblyChrPosition (strand)Source
Build 362222,508,491 - 22,509,687 (-)MPROMDB
RGD ID:6799808
Promoter ID:HG_KWN:41969
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000319910,   OTTHUMT00000319911,   OTTHUMT00000319912
Position:
Human AssemblyChrPosition (strand)Source
Build 362222,509,906 - 22,511,322 (-)MPROMDB
RGD ID:6799859
Promoter ID:HG_KWN:41970
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000404056,   OTTHUMT00000319907,   OTTHUMT00000319909,   UC002ZYH.1,   UC002ZYI.1,   UC002ZYK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362222,511,056 - 22,511,727 (-)MPROMDB
RGD ID:13603444
Promoter ID:EPDNEW_H27906
Type:initiation region
Name:DERL3_1
Description:derlin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,839,004 - 23,839,064EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14236 AgrOrtholog
COSMIC DERL3 COSMIC
Ensembl Genes ENSG00000099958 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000274437 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000290730 ENTREZGENE
  ENST00000318109 ENTREZGENE
  ENST00000318109.12 UniProtKB/Swiss-Prot
  ENST00000404056.1 UniProtKB/TrEMBL
  ENST00000406855 ENTREZGENE
  ENST00000406855.7 UniProtKB/Swiss-Prot
  ENST00000476077 ENTREZGENE
  ENST00000476077.1 UniProtKB/Swiss-Prot
  ENST00000614504.3 UniProtKB/TrEMBL
  ENST00000620697.3 UniProtKB/Swiss-Prot
  ENST00000628868.1 UniProtKB/Swiss-Prot
  ENST00000631305.2 UniProtKB/Swiss-Prot
GTEx ENSG00000099958 GTEx
  ENSG00000274437 GTEx
HGNC ID HGNC:14236 ENTREZGENE
Human Proteome Map DERL3 Human Proteome Map
InterPro DER1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhomboid-like_sf UniProtKB/Swiss-Prot
KEGG Report hsa:91319 UniProtKB/Swiss-Prot
NCBI Gene DERL3 ENTREZGENE
OMIM 610305 OMIM
PANTHER DER1-LIKE PROTEIN, DERLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DERLIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DER1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25883 PharmGKB
Superfamily-SCOP SSF144091 UniProtKB/Swiss-Prot
UniProt DERL3_HUMAN UniProtKB/Swiss-Prot
  E7EVA4_HUMAN UniProtKB/TrEMBL
  F2Z3B6 ENTREZGENE
  Q6ICJ6 ENTREZGENE
  Q6PEX0 ENTREZGENE
  Q6ZUB5 ENTREZGENE
  Q96Q80 ENTREZGENE
UniProt Secondary F2Z3B6 UniProtKB/Swiss-Prot
  Q6ICJ6 UniProtKB/Swiss-Prot
  Q6PEX0 UniProtKB/Swiss-Prot
  Q6ZUB5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-05-29 DERL3  derlin 3  DERL3  Der1-like domain family, member 3  Symbol and/or name change 5135510 APPROVED