SDF2L1 (stromal cell derived factor 2 like 1) - Rat Genome Database

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Gene: SDF2L1 (stromal cell derived factor 2 like 1) Homo sapiens
Analyze
Symbol: SDF2L1
Name: stromal cell derived factor 2 like 1
RGD ID: 1320780
HGNC Page HGNC:10676
Description: Enables misfolded protein binding activity. Involved in chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum. Part of protein folding chaperone complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: dihydropyrimidinase-like 2; PWP1-interacting protein 8; SDF2-like 1; SDF2-like protein 1; stromal cell-derived factor 2-like 1; stromal cell-derived factor 2-like protein 1
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
GRCh382221,642,302 - 21,644,299 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,642,302 - 21,644,299 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,996,591 - 21,998,588 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,326,542 - 20,328,588 (+)NCBINCBI36Build 36hg18NCBI36
Build 342220,321,095 - 20,323,142NCBI
Celera225,814,082 - 5,816,128 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,954,363 - 4,956,409 (+)NCBIHuRef
CHM1_12221,996,740 - 21,998,786 (+)NCBICHM1_1
T2T-CHM13v2.02222,055,802 - 22,057,799 (+)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
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-hydroxypropanoic acid  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aconitine  (ISO)
Actein  (ISO)
afimoxifene  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
avobenzone  (EXP)
beauvericin  (EXP)
Benoxacor  (ISO)
bisphenol A  (EXP,ISO)
C60 fullerene  (ISO)
cadmium dichloride  (EXP,ISO)
cantharidin  (ISO)
carbon nanotube  (ISO)
chloroacetaldehyde  (EXP)
chloropicrin  (EXP)
choline  (ISO)
cidofovir anhydrous  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dichloroacetic acid  (ISO)
dioxygen  (EXP)
diquat  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glutathione  (ISO)
hydralazine  (EXP)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP)
hydrogen sulfide  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
metformin  (ISO)
methyl methanesulfonate  (EXP)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
naphthalene  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
nitrates  (ISO)
okadaic acid  (EXP)
ozone  (ISO)
paracetamol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
progesterone  (EXP)
quartz  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
rac-lactic acid  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (EXP)
sodium dodecyl sulfate  (EXP)
sodium fluoride  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Three interacting genomic loci incorporating two novel mutations underlie the evolution of diet-induced diabetes. Yagil Y, etal., Mol Med. 2016 Jul 26;22. doi: 10.2119/molmed.2016.00114.
Additional References at PubMed
PMID:10591208   PMID:11162531   PMID:12477932   PMID:12975309   PMID:15461802   PMID:15489334   PMID:16396496   PMID:19710015   PMID:20811636   PMID:21145461   PMID:21873635   PMID:22190034  
PMID:22268729   PMID:22863883   PMID:23444373   PMID:24457600   PMID:24797263   PMID:24981860   PMID:24999758   PMID:25437307   PMID:25544563   PMID:25963833   PMID:26186194   PMID:26496610  
PMID:26638075   PMID:26972000   PMID:27025967   PMID:27173435   PMID:27375898   PMID:27432908   PMID:27777122   PMID:28330616   PMID:28514442   PMID:28515276   PMID:28597544   PMID:28675297  
PMID:29180619   PMID:29298432   PMID:29509190   PMID:29568061   PMID:29599191   PMID:30166453   PMID:30814508   PMID:30833792   PMID:30884312   PMID:31056421   PMID:31073040   PMID:31091453  
PMID:31182584   PMID:31624144   PMID:31980649   PMID:32096871   PMID:32203420   PMID:32296183   PMID:32457219   PMID:32513696   PMID:32614325   PMID:32707033   PMID:33001583   PMID:33134371  
PMID:33144569   PMID:33545068   PMID:33567341   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34597346   PMID:34687317   PMID:34709727   PMID:35007762   PMID:35013218   PMID:35271311  
PMID:35384245   PMID:35446349   PMID:35563538   PMID:36215168   PMID:36610398   PMID:37267103   PMID:37314216   PMID:39147351  


Genomics

Comparative Map Data
SDF2L1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,642,302 - 21,644,299 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,642,302 - 21,644,299 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,996,591 - 21,998,588 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,326,542 - 20,328,588 (+)NCBINCBI36Build 36hg18NCBI36
Build 342220,321,095 - 20,323,142NCBI
Celera225,814,082 - 5,816,128 (+)NCBICelera
Cytogenetic Map22q11.21NCBI
HuRef224,954,363 - 4,956,409 (+)NCBIHuRef
CHM1_12221,996,740 - 21,998,786 (+)NCBICHM1_1
T2T-CHM13v2.02222,055,802 - 22,057,799 (+)NCBIT2T-CHM13v2.0
Sdf2l1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391616,948,002 - 16,950,247 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1616,948,002 - 16,950,247 (-)EnsemblGRCm39 Ensembl
GRCm381617,130,138 - 17,132,383 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,130,138 - 17,132,383 (-)EnsemblGRCm38mm10GRCm38
MGSCv371617,130,231 - 17,132,476 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361617,043,701 - 17,045,928 (-)NCBIMGSCv36mm8
Celera1617,702,932 - 17,705,177 (-)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1610.62NCBI
Sdf2l1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81197,376,878 - 97,379,120 (+)NCBIGRCr8
mRatBN7.21183,872,659 - 83,874,902 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1183,872,659 - 83,874,902 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,596,386 - 92,598,629 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01185,257,528 - 85,259,771 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01184,311,108 - 84,313,351 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01188,122,271 - 88,124,513 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1188,122,271 - 88,124,513 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01191,174,846 - 91,177,088 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41185,878,093 - 85,880,335 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1182,628,352 - 82,630,594 (+)NCBICelera
Cytogenetic Map11q23NCBI
Sdf2l1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544217,468,302 - 17,470,296 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544217,468,302 - 17,470,296 (-)NCBIChiLan1.0ChiLan1.0
SDF2L1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22331,187,488 - 31,189,507 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12233,736,220 - 33,738,236 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0223,764,899 - 3,766,932 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12220,248,566 - 20,250,607 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2220,248,566 - 20,250,607 (+)Ensemblpanpan1.1panPan2
SDF2L1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12630,918,788 - 30,920,873 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2630,918,811 - 30,920,868 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2630,876,092 - 30,878,133 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02632,324,590 - 32,326,641 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2632,324,324 - 32,326,636 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12630,373,930 - 30,375,976 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02629,997,658 - 29,999,698 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02631,087,579 - 31,089,621 (+)NCBIUU_Cfam_GSD_1.0
Sdf2l1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118140,702,130 - 140,704,142 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366192,049,922 - 2,051,944 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366192,049,920 - 2,051,944 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SDF2L1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1450,246,710 - 50,251,642 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11450,249,607 - 50,251,636 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21453,700,127 - 53,702,117 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SDF2L1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1194,465,795 - 4,467,882 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl194,465,797 - 4,467,761 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660852,529,331 - 2,532,763 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sdf2l1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247471,195,055 - 1,197,105 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247471,195,043 - 1,197,105 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SDF2L1
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 copy number loss See cases [RCV000051017] Chr22:21151069..22562663 [GRCh38]
Chr22:21505358..22905068 [GRCh37]
Chr22:19835358..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 copy number loss See cases [RCV000051147] Chr22:21603122..22562663 [GRCh38]
Chr22:21957411..22905068 [GRCh37]
Chr22:20287411..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000053082] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] Chr22:21454661..23301036 [GRCh38]
Chr22:21808950..23643223 [GRCh37]
Chr22:20138950..21973223 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1 copy number loss See cases [RCV000053107] Chr22:21623411..22617259 [GRCh38]
Chr22:21977700..22959729 [GRCh37]
Chr22:20307700..21289729 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 copy number loss See cases [RCV000053108] Chr22:21623411..23315617 [GRCh38]
Chr22:21977700..23657804 [GRCh37]
Chr22:20307700..21987804 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] Chr22:21150869..22562804 [GRCh38]
Chr22:21505158..22905209 [GRCh37]
Chr22:19835158..21235209 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000053159] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 copy number gain See cases [RCV000053160] Chr22:21623411..22651271 [GRCh38]
Chr22:21977700..22993741 [GRCh37]
Chr22:20307700..21323741 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 copy number loss See cases [RCV000053075] Chr22:21443815..23397298 [GRCh38]
Chr22:21798104..23739485 [GRCh37]
Chr22:20128104..22069485 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-21832041)x3 copy number gain See cases [RCV000134516] Chr22:21583391..21832041 [GRCh38]
Chr22:21937680..22186330 [GRCh37]
Chr22:20267680..20516330 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 copy number loss See cases [RCV000135739] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 copy number gain See cases [RCV000136016] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 copy number loss See cases [RCV000136017] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 copy number loss See cases [RCV000136776] Chr22:21444416..22574173 [GRCh38]
Chr22:21798705..22916612 [GRCh37]
Chr22:20128705..21246612 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 copy number gain See cases [RCV000137493] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 copy number loss See cases [RCV000137494] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 copy number loss See cases [RCV000137767] Chr22:21454661..23312035 [GRCh38]
Chr22:21808950..23654222 [GRCh37]
Chr22:20138950..21984222 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 copy number loss See cases [RCV000139333] Chr22:21151097..22562620 [GRCh38]
Chr22:21505386..22905025 [GRCh37]
Chr22:19835386..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 copy number gain See cases [RCV000140091] Chr22:21583391..22647760 [GRCh38]
Chr22:21937680..22990230 [GRCh37]
Chr22:20267680..21320230 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1 copy number loss See cases [RCV000141561] Chr22:21447344..22655838 [GRCh38]
Chr22:21801633..22998308 [GRCh37]
Chr22:20131633..21328308 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 copy number gain See cases [RCV000142677] Chr22:21151069..22489199 [GRCh38]
Chr22:21505358..22843524 [GRCh37]
Chr22:19835358..21173524 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 copy number loss See cases [RCV000143267] Chr22:21454661..22617194 [GRCh38]
Chr22:21808950..22959664 [GRCh37]
Chr22:20138950..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000148078] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000148145] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1 copy number loss See cases [RCV000240088] Chr22:21923858..22963000 [GRCh37]
Chr22:22q11.21-11.22		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 copy number gain See cases [RCV000240040] Chr22:21400683..23654222 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3 copy number gain See cases [RCV000240579] Chr22:21923858..23025727 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:21998149-22053776)x1 copy number loss See cases [RCV000446514] Chr22:21998149..22053776 [GRCh37]
Chr22:22q11.21		 likely benign
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798906-22997928)x1 copy number loss See cases [RCV000448269] Chr22:21798906..22997928 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3 copy number gain See cases [RCV000510372] Chr22:21804562..23781918 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1 copy number loss See cases [RCV000510228] Chr22:21798907..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1 copy number loss See cases [RCV000511441] Chr22:21798907..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1 copy number loss See cases [RCV000511924] Chr22:21798907..22962962 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3 copy number gain See cases [RCV000510925] Chr22:21800796..22998050 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_022044.3(SDF2L1):c.643T>C (p.Ser215Pro) single nucleotide variant not specified [RCV004328688] Chr22:21644152 [GRCh38]
Chr22:21998441 [GRCh37]
Chr22:22q11.21		 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 22q11.21-11.23(chr22:21465661-23804835)x1 copy number loss not provided [RCV000684507] Chr22:21465661..23804835 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3 copy number gain not provided [RCV000684491] Chr22:21804562..22962962 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1 copy number loss not provided [RCV000684492] Chr22:21800470..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1 copy number loss not provided [RCV000684499] Chr22:21465661..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:21679616-22095920)x1 copy number loss not provided [RCV000741778] Chr22:21679616..22095920 [GRCh37]
Chr22:22q11.21		 benign
GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1 copy number loss not provided [RCV000741779] Chr22:21689086..22979897 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21910280-22972396)x1 copy number loss not provided [RCV000741784] Chr22:21910280..22972396 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.21808950_22963000del1154051 deletion Chromosome 22q11.2 deletion syndrome, distal [RCV000785668] Chr22:21808950..22963000 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674) copy number gain not provided [RCV000767631] Chr22:21800032..23237674 [GRCh37]
Chr22:22q11.21-11.22		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV000767634] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21915095-22603542)x3 copy number gain not provided [RCV000849651] Chr22:21915095..22603542 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 copy number loss not provided [RCV000846294] Chr22:21465661..23810042 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3 copy number gain not provided [RCV001007496] Chr22:21465661..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1 copy number loss not provided [RCV001007497] Chr22:21947428..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1 copy number loss not provided [RCV000849290] Chr22:21798906..23666232 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_022044.3(SDF2L1):c.192C>A (p.Ser64Arg) single nucleotide variant not specified [RCV004296197] Chr22:21642866 [GRCh38]
Chr22:21997155 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3 copy number gain not provided [RCV002473924] Chr22:21029656..22485776 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3 copy number gain See cases [RCV001194531] Chr22:21979096..22941426 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001199824] Chr22:21914652..22922798 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.21(chr22:21916216-21998113)x1 copy number loss not provided [RCV001259982] Chr22:21916216..21998113 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1 copy number loss not provided [RCV001259986] Chr22:21798906..23805099 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1 copy number loss See cases [RCV002285059] Chr22:21462566..22962196 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NC_000022.10:g.21514655_22986816del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001250235] Chr22:21514655..22986816 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21905051-22989041)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV001801181] Chr22:21905051..22989041 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21974641-22401879)x3 copy number gain not provided [RCV001827693] Chr22:21974641..22401879 [GRCh37]
Chr22:22q11.21-11.22		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 copy number gain not provided [RCV001836553] Chr22:21465661..24631791 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1 copy number loss not provided [RCV002276113] Chr22:21322233..22065138 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280733] Chr22:21798906..25039018 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1 copy number loss not provided [RCV002472582] Chr22:21465662..22962962 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NM_022044.3(SDF2L1):c.647C>T (p.Ala216Val) single nucleotide variant not specified [RCV004322068] Chr22:21644156 [GRCh38]
Chr22:21998445 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x3 copy number gain not provided [RCV002474494] Chr22:21798907..22962962 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
NM_022044.3(SDF2L1):c.512T>C (p.Leu171Pro) single nucleotide variant not specified [RCV004210330] Chr22:21644021 [GRCh38]
Chr22:21998310 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.46G>C (p.Gly16Arg) single nucleotide variant not specified [RCV004157053] Chr22:21642382 [GRCh38]
Chr22:21996671 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.172A>G (p.Ile58Val) single nucleotide variant not specified [RCV004109270] Chr22:21642508 [GRCh38]
Chr22:21996797 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.166C>T (p.His56Tyr) single nucleotide variant not specified [RCV004180539] Chr22:21642502 [GRCh38]
Chr22:21996791 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23652586)x3 copy number gain not provided [RCV003485239] Chr22:21798907..23652586 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1 copy number loss not provided [RCV003483391] Chr22:21916217..24060551 [GRCh37]
Chr22:22q11.21-11.23		 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
NC_000022.10:g.(?_21797384)_(23630313_?)del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV003885333] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_022044.3(SDF2L1):c.47G>A (p.Gly16Glu) single nucleotide variant not specified [RCV004455280] Chr22:21642383 [GRCh38]
Chr22:21996672 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.624C>G (p.Ile208Met) single nucleotide variant not specified [RCV004455282] Chr22:21644133 [GRCh38]
Chr22:21998422 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.404A>G (p.Glu135Gly) single nucleotide variant not specified [RCV004455278] Chr22:21643913 [GRCh38]
Chr22:21998202 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.442C>T (p.Arg148Cys) single nucleotide variant not specified [RCV004455279] Chr22:21643951 [GRCh38]
Chr22:21998240 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.481C>T (p.Arg161Cys) single nucleotide variant not specified [RCV004455281] Chr22:21643990 [GRCh38]
Chr22:21998279 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.443G>A (p.Arg148His) single nucleotide variant not specified [RCV004861232] Chr22:21643952 [GRCh38]
Chr22:21998241 [GRCh37]
Chr22:22q11.21		 uncertain significance
NM_022044.3(SDF2L1):c.266A>G (p.Glu89Gly) single nucleotide variant not specified [RCV004861233] Chr22:21642940 [GRCh38]
Chr22:21997229 [GRCh37]
Chr22:22q11.21		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24636372)x3 copy number gain not provided [RCV004819322] Chr22:21798907..24636372 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21915096-23652587)x3 copy number gain not provided [RCV004819283] Chr22:21915096..23652587 [GRCh37]
Chr22:22q11.21-11.23		 likely pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1 copy number loss not provided [RCV003483390] Chr22:21465662..22997928 [GRCh37]
Chr22:22q11.21-11.22		 pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 copy number loss not provided [RCV000848992] Chr22:21922619..23654064 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_022044.3(SDF2L1):c.547C>T (p.Arg183Cys) single nucleotide variant not specified [RCV004263784] Chr22:21644056 [GRCh38]
Chr22:21998345 [GRCh37]
Chr22:22q11.21		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:484
Count of miRNA genes:350
Interacting mature miRNAs:386
Transcripts:ENST00000248958, ENST00000466935
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597183336GWAS1279410_Hstromal cell-derived factor 2-like protein 1 measurement QTL GWAS1279410 (human)4e-73stromal cell-derived factor 2-like protein 1 measurement222164399121643992Human
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
597231280GWAS1327354_Hrheumatoid arthritis QTL GWAS1327354 (human)6e-12rheumatoid arthritis222164278121642782Human

Markers in Region
RH41995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,998,457 - 21,998,570UniSTSGRCh37
Build 362220,328,457 - 20,328,570RGDNCBI36
Celera225,815,997 - 5,816,110RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,956,278 - 4,956,391UniSTS
GeneMap99-GB4 RH Map2234.24UniSTS
NCBI RH Map2258.4UniSTS
RH48055  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372221,998,381 - 21,998,538UniSTSGRCh37
Build 362220,328,381 - 20,328,538RGDNCBI36
Celera225,815,921 - 5,816,078RGD
Cytogenetic Map22q11.21UniSTS
HuRef224,956,202 - 4,956,359UniSTS
GeneMap99-GB4 RH Map2234.44UniSTS


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 2437 2788 2251 4969 1726 2351 5 624 1950 465 2269 7299 6468 52 3730 1 852 1744 1616 173 1

Sequence


Ensembl Acc Id: ENST00000248958   ⟹   ENSP00000248958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,642,302 - 21,644,299 (+)Ensembl
Ensembl Acc Id: ENST00000466935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,642,354 - 21,643,292 (+)Ensembl
RefSeq Acc Id: NM_022044   ⟹   NP_071327
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,642,302 - 21,644,299 (+)NCBI
GRCh372221,996,542 - 21,998,588 (+)RGD
Build 362220,326,542 - 20,328,588 (+)NCBI Archive
Celera225,814,082 - 5,816,128 (+)RGD
HuRef224,954,363 - 4,956,409 (+)RGD
CHM1_12221,996,740 - 21,998,786 (+)NCBI
T2T-CHM13v2.02222,055,802 - 22,057,799 (+)NCBI
Sequence:
RefSeq Acc Id: NP_071327   ⟸   NM_022044
- Peptide Label: precursor
- UniProtKB: A2RUD3 (UniProtKB/Swiss-Prot),   Q9BRI5 (UniProtKB/Swiss-Prot),   Q9HCN8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000248958   ⟸   ENST00000248958
Protein Domains
MIR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HCN8-F1-model_v2 AlphaFold Q9HCN8 1-221 view protein structure

Promoters
RGD ID:6800339
Promoter ID:HG_KWN:41771
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_022044,   OTTHUMT00000320198
Position:
Human AssemblyChrPosition (strand)Source
Build 362220,326,224 - 20,326,724 (+)MPROMDB
RGD ID:13603326
Promoter ID:EPDNEW_H27847
Type:initiation region
Name:SDF2L1_1
Description:stromal cell derived factor 2 like 1
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
GRCh382221,642,320 - 21,642,380EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10676 AgrOrtholog
COSMIC SDF2L1 COSMIC
Ensembl Genes ENSG00000128228 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000248958 ENTREZGENE
  ENST00000248958.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.80.10.50 UniProtKB/Swiss-Prot
GTEx ENSG00000128228 GTEx
HGNC ID HGNC:10676 ENTREZGENE
Human Proteome Map SDF2L1 Human Proteome Map
InterPro MIR_dom_sf UniProtKB/Swiss-Prot
  MIR_motif UniProtKB/Swiss-Prot
KEGG Report hsa:23753 UniProtKB/Swiss-Prot
NCBI Gene 23753 ENTREZGENE
OMIM 607551 OMIM
PANTHER STROMAL CELL-DERIVED FACTOR 2-LIKE PROTEIN UniProtKB/Swiss-Prot
  STROMAL CELL-DERIVED FACTOR 2-LIKE PROTEIN 1 UniProtKB/Swiss-Prot
Pfam MIR UniProtKB/Swiss-Prot
PharmGKB PA35604 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
  MIR UniProtKB/Swiss-Prot
SMART MIR UniProtKB/Swiss-Prot
Superfamily-SCOP SSF82109 UniProtKB/Swiss-Prot
UniProt A2RUD3 ENTREZGENE
  Q9BRI5 ENTREZGENE
  Q9HCN8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A2RUD3 UniProtKB/Swiss-Prot
  Q9BRI5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 SDF2L1  stromal cell derived factor 2 like 1    stromal cell-derived factor 2-like 1  Symbol and/or name change 5135510 APPROVED