DCHS2 (dachsous cadherin-related 2) - Rat Genome Database

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Gene: DCHS2 (dachsous cadherin-related 2) Homo sapiens
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Symbol: DCHS2
Name: dachsous cadherin-related 2
RGD ID: 1603301
HGNC Page HGNC:23111
Description: Predicted to enable cadherin binding activity and calcium ion binding activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within condensed mesenchymal cell proliferation and nephron development. Predicted to be located in plasma membrane. Predicted to be part of catenin complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin J; cadherin-27; cadherin-like 27; cadherin-like protein CDHJ; cadherin-like protein VR8; cadherin-related family member 7; CDH27; CDHJ; CDHR7; dachsous 2; dachsous-like; FLJ20047; PCDH23; PCDHJ; protein dachsous homolog 2; protocadherin 23; protocadherin J; protocadherin PCDHJ; protocadherin protein CDHJ; protocadherin protein PCDHJ; protocadherin-23
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
GRCh384154,231,742 - 154,491,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4154,231,742 - 154,491,799 (-)EnsemblGRCh38hg38GRCh38
GRCh374155,152,894 - 155,412,951 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,375,138 - 155,531,899 (-)NCBINCBI36Build 36hg18NCBI36
Celera4152,487,107 - 152,744,394 (-)NCBICelera
Cytogenetic Map4q31.3NCBI
HuRef4150,896,142 - 151,153,669 (-)NCBIHuRef
CHM1_14155,133,499 - 155,390,873 (-)NCBICHM1_1
T2T-CHM13v2.04157,563,483 - 157,823,579 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:14702039   PMID:15003449   PMID:16344560   PMID:20639394   PMID:21145461   PMID:21757653   PMID:21873635   PMID:22005931   PMID:22610502   PMID:22960237  
PMID:23251661   PMID:24898286   PMID:26126179   PMID:26876984   PMID:27193062   PMID:33108146   PMID:35914814   PMID:36774506  


Genomics

Comparative Map Data
DCHS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384154,231,742 - 154,491,799 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4154,231,742 - 154,491,799 (-)EnsemblGRCh38hg38GRCh38
GRCh374155,152,894 - 155,412,951 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,375,138 - 155,531,899 (-)NCBINCBI36Build 36hg18NCBI36
Celera4152,487,107 - 152,744,394 (-)NCBICelera
Cytogenetic Map4q31.3NCBI
HuRef4150,896,142 - 151,153,669 (-)NCBIHuRef
CHM1_14155,133,499 - 155,390,873 (-)NCBICHM1_1
T2T-CHM13v2.04157,563,483 - 157,823,579 (-)NCBIT2T-CHM13v2.0
Dchs2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39383,032,589 - 83,270,336 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl383,035,255 - 83,264,516 (+)EnsemblGRCm39 Ensembl
GRCm38383,126,944 - 83,363,029 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl383,127,948 - 83,357,209 (+)EnsemblGRCm38mm10GRCm38
MGSCv37383,040,453 - 83,160,389 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36383,322,458 - 83,442,394 (+)NCBIMGSCv36mm8
Celera383,359,655 - 83,362,168 (+)NCBICelera
Cytogenetic Map3E3NCBI
Dchs2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82170,775,818 - 170,983,844 (+)NCBIGRCr8
mRatBN7.22168,478,298 - 168,685,802 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2168,478,826 - 168,682,732 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.02182,112,787 - 182,319,003 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02201,527,880 - 201,733,437 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42174,852,149 - 175,056,529 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2162,497,522 - 162,704,249 (+)NCBICelera
Cytogenetic Map2q34NCBI
Dchs2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554718,482,256 - 8,705,890 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554718,485,532 - 8,707,033 (-)NCBIChiLan1.0ChiLan1.0
DCHS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23152,131,900 - 152,403,873 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14152,488,207 - 152,759,391 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04146,597,168 - 146,858,314 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14158,414,929 - 158,676,163 (-)NCBIpanpan1.1PanPan1.1panPan2
DCHS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11551,910,985 - 52,038,538 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1551,915,989 - 52,138,739 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1552,257,488 - 52,483,107 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01552,598,926 - 52,825,401 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1552,602,627 - 52,825,857 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11551,854,124 - 52,080,442 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01551,959,217 - 52,185,021 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01552,272,809 - 52,499,451 (-)NCBIUU_Cfam_GSD_1.0
Dchs2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530138,313,853 - 38,561,542 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936576988,868 - 1,119,150 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936576987,927 - 1,169,210 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DCHS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl874,664,598 - 74,934,835 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1874,664,505 - 74,936,954 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2879,273,291 - 79,415,399 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DCHS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17100,770,541 - 101,036,985 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603780,425,267 - 80,692,234 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dchs2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248585,466,947 - 5,717,482 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248585,464,552 - 5,717,086 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DCHS2
62 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1 copy number loss See cases [RCV000053324] Chr4:153656785..154928773 [GRCh38]
Chr4:154577937..155849925 [GRCh37]
Chr4:154797387..156069375 [NCBI36]
Chr4:4q31.3-32.1		 pathogenic
NM_017639.3(DCHS2):c.7816G>A (p.Glu2606Lys) single nucleotide variant Malignant melanoma [RCV000066305] Chr4:154235471 [GRCh38]
Chr4:155156623 [GRCh37]
Chr4:155376073 [NCBI36]
Chr4:4q31.3		 not provided
NM_017639.3(DCHS2):c.5174G>A (p.Gly1725Glu) single nucleotide variant Malignant melanoma [RCV000066306] Chr4:154269938 [GRCh38]
Chr4:155191090 [GRCh37]
Chr4:155410540 [NCBI36]
Chr4:4q31.3		 not provided
NM_017639.3(DCHS2):c.226G>A (p.Glu76Lys) single nucleotide variant Malignant melanoma [RCV000066307] Chr4:154384376 [GRCh38]
Chr4:155305528 [GRCh37]
Chr4:155524978 [NCBI36]
Chr4:4q31.3		 not provided
NM_017639.3(DCHS2):c.5099-1830T>A single nucleotide variant Lung cancer [RCV000094222] Chr4:154271843 [GRCh38]
Chr4:155192995 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2053-7021A>G single nucleotide variant not provided [RCV000122552] Chr4:154384465 [GRCh38]
Chr4:155305617 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.4375G>A (p.Gly1459Arg) single nucleotide variant Malignant tumor of prostate [RCV000149244] Chr4:154321024 [GRCh38]
Chr4:155242176 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 copy number gain See cases [RCV000143617] Chr4:152500649..155788803 [GRCh38]
Chr4:153421801..156709955 [GRCh37]
Chr4:153641251..156929405 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
NM_001358235.2(DCHS2):c.2306C>T (p.Pro769Leu) single nucleotide variant not specified [RCV004317779] Chr4:154366380 [GRCh38]
Chr4:155287532 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_001358235.2(DCHS2):c.3358C>G (p.Leu1120Val) single nucleotide variant not specified [RCV004315622] Chr4:154332850 [GRCh38]
Chr4:155254002 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3845T>C (p.Val1282Ala) single nucleotide variant not specified [RCV004293601] Chr4:154329596 [GRCh38]
Chr4:155250748 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 copy number loss not provided [RCV000682474] Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 copy number loss not provided [RCV001005606] Chr4:153061243..157994448 [GRCh37]
Chr4:4q31.3-32.1		 likely pathogenic
NM_001358235.2(DCHS2):c.3434G>T (p.Arg1145Leu) single nucleotide variant not specified [RCV004289251] Chr4:154332774 [GRCh38]
Chr4:155253926 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 copy number loss not provided [RCV000848578] Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1		 uncertain significance
Single allele duplication not provided [RCV000845041] Chr4:154239914..155235547 [GRCh37]
Chr4:4q31.3		 not provided
GRCh37/hg19 4q31.3(chr4:154769596-155177347)x3 copy number gain not provided [RCV000846689] Chr4:154769596..155177347 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
NM_001358235.2(DCHS2):c.2053-13798T>C single nucleotide variant not specified [RCV004314928] Chr4:154391242 [GRCh38]
Chr4:155312394 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
NM_001358235.2(DCHS2):c.3329C>T (p.Pro1110Leu) single nucleotide variant not specified [RCV004320075] Chr4:154332879 [GRCh38]
Chr4:155254031 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3239C>T (p.Pro1080Leu) single nucleotide variant not specified [RCV004206996] Chr4:154332969 [GRCh38]
Chr4:155254121 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.1788G>A (p.Met596Ile) single nucleotide variant not specified [RCV004197614] Chr4:154489568 [GRCh38]
Chr4:155410720 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.407G>A (p.Arg136Gln) single nucleotide variant not specified [RCV004088180] Chr4:154490949 [GRCh38]
Chr4:155412101 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3512A>C (p.Gln1171Pro) single nucleotide variant not specified [RCV004148969] Chr4:154332696 [GRCh38]
Chr4:155253848 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.181G>A (p.Gly61Ser) single nucleotide variant not specified [RCV004086751] Chr4:154491175 [GRCh38]
Chr4:155412327 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.839T>G (p.Leu280Arg) single nucleotide variant not specified [RCV004098970] Chr4:154490517 [GRCh38]
Chr4:155411669 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2333C>T (p.Thr778Met) single nucleotide variant not specified [RCV004190804] Chr4:154366353 [GRCh38]
Chr4:155287505 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2765A>G (p.Lys922Arg) single nucleotide variant not specified [RCV004240080] Chr4:154333443 [GRCh38]
Chr4:155254595 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2471C>T (p.Thr824Ile) single nucleotide variant not specified [RCV004112813] Chr4:154366215 [GRCh38]
Chr4:155287367 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.934G>A (p.Gly312Ser) single nucleotide variant not specified [RCV004197371] Chr4:154490422 [GRCh38]
Chr4:155411574 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2237A>G (p.Lys746Arg) single nucleotide variant not specified [RCV004114884] Chr4:154377260 [GRCh38]
Chr4:155298412 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2053-13834C>G single nucleotide variant not specified [RCV004138284] Chr4:154391278 [GRCh38]
Chr4:155312430 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3730+872C>T single nucleotide variant not specified [RCV004087083] Chr4:154331606 [GRCh38]
Chr4:155252758 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3532A>G (p.Ile1178Val) single nucleotide variant not specified [RCV004136085] Chr4:154332676 [GRCh38]
Chr4:155253828 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3092C>T (p.Ala1031Val) single nucleotide variant not specified [RCV004116906] Chr4:154333116 [GRCh38]
Chr4:155254268 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3396G>A (p.Met1132Ile) single nucleotide variant not specified [RCV004087471] Chr4:154332812 [GRCh38]
Chr4:155253964 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.3790G>A (p.Val1264Met) single nucleotide variant not specified [RCV004229179] Chr4:154329651 [GRCh38]
Chr4:155250803 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3479T>C (p.Val1160Ala) single nucleotide variant not specified [RCV004230655] Chr4:154332729 [GRCh38]
Chr4:155253881 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3748G>A (p.Val1250Met) single nucleotide variant not specified [RCV004074406] Chr4:154329693 [GRCh38]
Chr4:155250845 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3005G>T (p.Arg1002Leu) single nucleotide variant not specified [RCV004087469] Chr4:154333203 [GRCh38]
Chr4:155254355 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3805C>T (p.Arg1269Cys) single nucleotide variant not specified [RCV004150381] Chr4:154329636 [GRCh38]
Chr4:155250788 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3 copy number gain not provided [RCV002508994] Chr4:154928902..155707223 [GRCh37]
Chr4:4q31.3-32.1		 not provided
NM_001358235.2(DCHS2):c.3550G>A (p.Glu1184Lys) single nucleotide variant not specified [RCV004154985] Chr4:154332658 [GRCh38]
Chr4:155253810 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3326A>G (p.His1109Arg) single nucleotide variant not specified [RCV004078930] Chr4:154332882 [GRCh38]
Chr4:155254034 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3220G>C (p.Glu1074Gln) single nucleotide variant not specified [RCV004137635] Chr4:154332988 [GRCh38]
Chr4:155254140 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2809C>A (p.Pro937Thr) single nucleotide variant not specified [RCV004097914] Chr4:154333399 [GRCh38]
Chr4:155254551 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3601G>A (p.Glu1201Lys) single nucleotide variant not specified [RCV004163028] Chr4:154332607 [GRCh38]
Chr4:155253759 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.1777C>A (p.Gln593Lys) single nucleotide variant not specified [RCV004203765] Chr4:154489579 [GRCh38]
Chr4:155410731 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2962A>C (p.Ile988Leu) single nucleotide variant not specified [RCV004173207] Chr4:154333246 [GRCh38]
Chr4:155254398 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3309G>A (p.Met1103Ile) single nucleotide variant not specified [RCV004087470] Chr4:154332899 [GRCh38]
Chr4:155254051 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2936T>C (p.Phe979Ser) single nucleotide variant not specified [RCV004271251] Chr4:154333272 [GRCh38]
Chr4:155254424 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.4019-835_4019-834insA insertion Multiple congenital anomalies [RCV003228191] Chr4:154323322..154323323 [GRCh38]
Chr4:155244474..155244475 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2147G>A (p.Arg716Gln) single nucleotide variant not specified [RCV004336659] Chr4:154377350 [GRCh38]
Chr4:155298502 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.3836C>T (p.Ala1279Val) single nucleotide variant not specified [RCV004346199] Chr4:154329605 [GRCh38]
Chr4:155250757 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.3062C>A (p.Pro1021Gln) single nucleotide variant not specified [RCV004365049] Chr4:154333146 [GRCh38]
Chr4:155254298 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.3271G>A (p.Val1091Met) single nucleotide variant not specified [RCV004356007] Chr4:154332937 [GRCh38]
Chr4:155254089 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q31.3(chr4:154957240-155205078)x1 copy number loss not provided [RCV003485439] Chr4:154957240..155205078 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q31.3(chr4:155065505-155159162)x1 copy number loss not provided [RCV003485440] Chr4:155065505..155159162 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
NM_001358235.2(DCHS2):c.3974C>T (p.Pro1325Leu) single nucleotide variant DCHS2-related disorder [RCV003919194]|not provided [RCV003435187] Chr4:154328137 [GRCh38]
Chr4:155249289 [GRCh37]
Chr4:4q31.3		 benign|likely benign
NM_001358235.2(DCHS2):c.787C>T (p.Arg263Trp) single nucleotide variant DCHS2-related disorder [RCV003919196]|not provided [RCV003435188] Chr4:154490569 [GRCh38]
Chr4:155411721 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.4614C>T (p.Asp1538=) single nucleotide variant not provided [RCV003439521] Chr4:154320785 [GRCh38]
Chr4:155241937 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.28G>C (p.Glu10Gln) single nucleotide variant DCHS2-related disorder [RCV003939001]|not provided [RCV003435191] Chr4:154491328 [GRCh38]
Chr4:155412480 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.1274G>T (p.Arg425Leu) single nucleotide variant DCHS2-related disorder [RCV003919195]|not provided [RCV003439525] Chr4:154490082 [GRCh38]
Chr4:155411234 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.560G>T (p.Arg187Leu) single nucleotide variant DCHS2-related disorder [RCV003919197]|not provided [RCV003435189] Chr4:154490796 [GRCh38]
Chr4:155411948 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.418A>G (p.Ser140Gly) single nucleotide variant DCHS2-related disorder [RCV003939000]|not provided [RCV003435190] Chr4:154490938 [GRCh38]
Chr4:155412090 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.1692C>A (p.Ser564=) single nucleotide variant not provided [RCV003439524] Chr4:154489664 [GRCh38]
Chr4:155410816 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2820C>G (p.His940Gln) single nucleotide variant DCHS2-related disorder [RCV003908949]|not provided [RCV003439522] Chr4:154333388 [GRCh38]
Chr4:155254540 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2064T>C (p.Ser688=) single nucleotide variant not provided [RCV003439523] Chr4:154377433 [GRCh38]
Chr4:155298585 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2477-1G>T single nucleotide variant DCHS2-related disorder [RCV003418910] Chr4:154335105 [GRCh38]
Chr4:155256257 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_001358235.2(DCHS2):c.78C>T (p.Pro26=) single nucleotide variant DCHS2-related disorder [RCV003939313] Chr4:154491278 [GRCh38]
Chr4:155412430 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.6467C>T (p.Thr2156Ile) single nucleotide variant DCHS2-related disorder [RCV003939288] Chr4:154270010 [GRCh38]
Chr4:155191162 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.496C>G (p.Arg166Gly) single nucleotide variant DCHS2-related disorder [RCV003941518] Chr4:154490860 [GRCh38]
Chr4:155412012 [GRCh37]
Chr4:4q31.3		 benign
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
NM_001358235.2(DCHS2):c.9262C>T (p.His3088Tyr) single nucleotide variant DCHS2-related disorder [RCV003976717] Chr4:154235390 [GRCh38]
Chr4:155156542 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1582C>T (p.Arg528Trp) single nucleotide variant DCHS2-related disorder [RCV003976751] Chr4:154489774 [GRCh38]
Chr4:155410926 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2264C>G (p.Ala755Gly) single nucleotide variant not specified [RCV004373315] Chr4:154366422 [GRCh38]
Chr4:155287574 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.7520T>G (p.Leu2507Ter) single nucleotide variant DCHS2-related disorder [RCV003919467] Chr4:154237132 [GRCh38]
Chr4:155158284 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.496C>T (p.Arg166Cys) single nucleotide variant DCHS2-related disorder [RCV003919678] Chr4:154490860 [GRCh38]
Chr4:155412012 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.7072+8_7072+9del microsatellite DCHS2-related disorder [RCV003916873] Chr4:154242633..154242634 [GRCh38]
Chr4:155163785..155163786 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4177-9G>A single nucleotide variant DCHS2-related disorder [RCV003974306] Chr4:154321231 [GRCh38]
Chr4:155242383 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.5678G>T (p.Arg1893Leu) single nucleotide variant DCHS2-related disorder [RCV003903853] Chr4:154298636 [GRCh38]
Chr4:155219788 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3806G>T (p.Arg1269Leu) single nucleotide variant not specified [RCV004373309] Chr4:154329635 [GRCh38]
Chr4:155250787 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2276T>C (p.Val759Ala) single nucleotide variant not specified [RCV004373316] Chr4:154366410 [GRCh38]
Chr4:155287562 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2608A>G (p.Thr870Ala) single nucleotide variant DCHS2-related disorder [RCV003946796] Chr4:154334973 [GRCh38]
Chr4:155256125 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2653G>C (p.Val885Leu) single nucleotide variant not specified [RCV004373297] Chr4:154334928 [GRCh38]
Chr4:155256080 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2657A>T (p.Tyr886Phe) single nucleotide variant not specified [RCV004373298] Chr4:154334924 [GRCh38]
Chr4:155256076 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2762G>T (p.Gly921Val) single nucleotide variant not specified [RCV004373299] Chr4:154333446 [GRCh38]
Chr4:155254598 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2810C>G (p.Pro937Arg) single nucleotide variant not specified [RCV004373300] Chr4:154333398 [GRCh38]
Chr4:155254550 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3125G>C (p.Gly1042Ala) single nucleotide variant not specified [RCV004373301] Chr4:154333083 [GRCh38]
Chr4:155254235 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3356C>T (p.Pro1119Leu) single nucleotide variant not specified [RCV004373305] Chr4:154332852 [GRCh38]
Chr4:155254004 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3601G>C (p.Glu1201Gln) single nucleotide variant not specified [RCV004373307] Chr4:154332607 [GRCh38]
Chr4:155253759 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3808G>A (p.Gly1270Ser) single nucleotide variant not specified [RCV004373310] Chr4:154329633 [GRCh38]
Chr4:155250785 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3919G>A (p.Val1307Ile) single nucleotide variant not specified [RCV004373311] Chr4:154328192 [GRCh38]
Chr4:155249344 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.687G>A (p.Gly229=) single nucleotide variant DCHS2-related disorder [RCV003941875] Chr4:154490669 [GRCh38]
Chr4:155411821 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3184C>A (p.Pro1062Thr) single nucleotide variant not specified [RCV004373303] Chr4:154333024 [GRCh38]
Chr4:155254176 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2154C>A (p.Asp718Glu) single nucleotide variant not specified [RCV004373312] Chr4:154377343 [GRCh38]
Chr4:155298495 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.9557C>T (p.Thr3186Ile) single nucleotide variant DCHS2-related disorder [RCV003961629] Chr4:154235095 [GRCh38]
Chr4:155156247 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.9130C>T (p.Arg3044Trp) single nucleotide variant DCHS2-related disorder [RCV003951403] Chr4:154235522 [GRCh38]
Chr4:155156674 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.552C>G (p.Thr184=) single nucleotide variant DCHS2-related disorder [RCV003926922] Chr4:154490804 [GRCh38]
Chr4:155411956 [GRCh37]
Chr4:4q31.3		 likely benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
NM_001358235.2(DCHS2):c.1858A>G (p.Thr620Ala) single nucleotide variant DCHS2-related disorder [RCV003967343] Chr4:154489498 [GRCh38]
Chr4:155410650 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2244+3329T>C single nucleotide variant DCHS2-related disorder [RCV003984641] Chr4:154373924 [GRCh38]
Chr4:155295076 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4055A>G (p.Asn1352Ser) single nucleotide variant DCHS2-related disorder [RCV003974575] Chr4:154322452 [GRCh38]
Chr4:155243604 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3224A>C (p.Lys1075Thr) single nucleotide variant not specified [RCV004373304] Chr4:154332984 [GRCh38]
Chr4:155254136 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3409C>T (p.Pro1137Ser) single nucleotide variant not specified [RCV004373306] Chr4:154332799 [GRCh38]
Chr4:155253951 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3806G>A (p.Arg1269His) single nucleotide variant not specified [RCV004373308] Chr4:154329635 [GRCh38]
Chr4:155250787 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2053-13814G>A single nucleotide variant not specified [RCV004373313] Chr4:154391258 [GRCh38]
Chr4:155312410 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2244+3317A>T single nucleotide variant not specified [RCV004373314] Chr4:154373936 [GRCh38]
Chr4:155295088 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.8273G>A (p.Ser2758Asn) single nucleotide variant DCHS2-related disorder [RCV003976314] Chr4:154236379 [GRCh38]
Chr4:155157531 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.5926G>T (p.Ala1976Ser) single nucleotide variant DCHS2-related disorder [RCV003919419] Chr4:154298388 [GRCh38]
Chr4:155219540 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.4019-785CAAA[5] microsatellite DCHS2-related disorder [RCV003981848] Chr4:154323250..154323253 [GRCh38]
Chr4:155244402..155244405 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.7161T>C (p.Ser2387=) single nucleotide variant DCHS2-related disorder [RCV003914457] Chr4:154240735 [GRCh38]
Chr4:155161887 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.7843G>A (p.Gly2615Ser) single nucleotide variant DCHS2-related disorder [RCV003914626] Chr4:154236809 [GRCh38]
Chr4:155157961 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.7933T>C (p.Leu2645=) single nucleotide variant DCHS2-related disorder [RCV003919587] Chr4:154236719 [GRCh38]
Chr4:155157871 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.951C>T (p.Arg317=) single nucleotide variant DCHS2-related disorder [RCV003963973] Chr4:154490405 [GRCh38]
Chr4:155411557 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.3214G>T (p.Val1072Phe) single nucleotide variant DCHS2-related disorder [RCV003957270] Chr4:154332994 [GRCh38]
Chr4:155254146 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.3844G>A (p.Val1282Ile) single nucleotide variant DCHS2-related disorder [RCV003961536] Chr4:154329597 [GRCh38]
Chr4:155250749 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3676C>T (p.Leu1226=) single nucleotide variant DCHS2-related disorder [RCV003931613] Chr4:154332532 [GRCh38]
Chr4:155253684 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3205C>T (p.Leu1069=) single nucleotide variant DCHS2-related disorder [RCV003931625] Chr4:154333003 [GRCh38]
Chr4:155254155 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2477-8381C>T single nucleotide variant DCHS2-related disorder [RCV003977278] Chr4:154343485 [GRCh38]
Chr4:155264637 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.44G>A (p.Arg15Gln) single nucleotide variant DCHS2-related disorder [RCV003977348] Chr4:154491312 [GRCh38]
Chr4:155412464 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2837T>C (p.Val946Ala) single nucleotide variant DCHS2-related disorder [RCV003907012] Chr4:154333371 [GRCh38]
Chr4:155254523 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.9405C>T (p.Ile3135=) single nucleotide variant DCHS2-related disorder [RCV003924557] Chr4:154235247 [GRCh38]
Chr4:155156399 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.6084C>G (p.Val2028=) single nucleotide variant DCHS2-related disorder [RCV003979178] Chr4:154298230 [GRCh38]
Chr4:155219382 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4047C>T (p.Asp1349=) single nucleotide variant DCHS2-related disorder [RCV003906868] Chr4:154322460 [GRCh38]
Chr4:155243612 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.569T>G (p.Val190Gly) single nucleotide variant DCHS2-related disorder [RCV003982302] Chr4:154490787 [GRCh38]
Chr4:155411939 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.5475C>T (p.His1825=) single nucleotide variant DCHS2-related disorder [RCV003921907] Chr4:154304799 [GRCh38]
Chr4:155225951 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.6105T>C (p.Asp2035=) single nucleotide variant DCHS2-related disorder [RCV003979354] Chr4:154298209 [GRCh38]
Chr4:155219361 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1058C>A (p.Ala353Glu) single nucleotide variant DCHS2-related disorder [RCV003937191] Chr4:154490298 [GRCh38]
Chr4:155411450 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4540C>T (p.Leu1514Phe) single nucleotide variant DCHS2-related disorder [RCV003907318] Chr4:154320859 [GRCh38]
Chr4:155242011 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4877C>T (p.Ala1626Val) single nucleotide variant DCHS2-related disorder [RCV003929506] Chr4:154320522 [GRCh38]
Chr4:155241674 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2854G>A (p.Ala952Thr) single nucleotide variant DCHS2-related disorder [RCV003929538] Chr4:154333354 [GRCh38]
Chr4:155254506 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.795G>A (p.Gln265=) single nucleotide variant DCHS2-related disorder [RCV003929584] Chr4:154490561 [GRCh38]
Chr4:155411713 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.7389dup (p.Tyr2464fs) duplication DCHS2-related disorder [RCV003916881] Chr4:154239272..154239273 [GRCh38]
Chr4:155160424..155160425 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.9890C>T (p.Pro3297Leu) single nucleotide variant DCHS2-related disorder [RCV003922223] Chr4:154234762 [GRCh38]
Chr4:155155914 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2191G>A (p.Asp731Asn) single nucleotide variant DCHS2-related disorder [RCV003914247] Chr4:154377306 [GRCh38]
Chr4:155298458 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1841C>T (p.Ala614Val) single nucleotide variant DCHS2-related disorder [RCV003984601] Chr4:154489515 [GRCh38]
Chr4:155410667 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.8074C>T (p.Arg2692Cys) single nucleotide variant DCHS2-related disorder [RCV003961697] Chr4:154236578 [GRCh38]
Chr4:155157730 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1026G>T (p.Gly342=) single nucleotide variant DCHS2-related disorder [RCV003929782] Chr4:154490330 [GRCh38]
Chr4:155411482 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.8789A>G (p.Lys2930Arg) single nucleotide variant DCHS2-related disorder [RCV003974682] Chr4:154235863 [GRCh38]
Chr4:155157015 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.5405G>A (p.Arg1802Gln) single nucleotide variant DCHS2-related disorder [RCV003909649] Chr4:154304869 [GRCh38]
Chr4:155226021 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2802C>T (p.Thr934=) single nucleotide variant DCHS2-related disorder [RCV003927181] Chr4:154333406 [GRCh38]
Chr4:155254558 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1599T>C (p.Asn533=) single nucleotide variant DCHS2-related disorder [RCV003984726] Chr4:154489757 [GRCh38]
Chr4:155410909 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.6822C>T (p.Asn2274=) single nucleotide variant DCHS2-related disorder [RCV003914368] Chr4:154255638 [GRCh38]
Chr4:155176790 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3204G>A (p.Val1068=) single nucleotide variant DCHS2-related disorder [RCV003914569] Chr4:154333004 [GRCh38]
Chr4:155254156 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.8644C>A (p.Gln2882Lys) single nucleotide variant DCHS2-related disorder [RCV003922089] Chr4:154236008 [GRCh38]
Chr4:155157160 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4816G>A (p.Ala1606Thr) single nucleotide variant DCHS2-related disorder [RCV003981281] Chr4:154320583 [GRCh38]
Chr4:155241735 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2556T>C (p.Gly852=) single nucleotide variant DCHS2-related disorder [RCV003984755] Chr4:154335025 [GRCh38]
Chr4:155256177 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1188G>A (p.Thr396=) single nucleotide variant DCHS2-related disorder [RCV003932328] Chr4:154490168 [GRCh38]
Chr4:155411320 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4979C>T (p.Ser1660Leu) single nucleotide variant DCHS2-related disorder [RCV003979662] Chr4:154320420 [GRCh38]
Chr4:155241572 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.625C>T (p.Pro209Ser) single nucleotide variant DCHS2-related disorder [RCV003979725] Chr4:154490731 [GRCh38]
Chr4:155411883 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.9392C>T (p.Pro3131Leu) single nucleotide variant DCHS2-related disorder [RCV003979738] Chr4:154235260 [GRCh38]
Chr4:155156412 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4056T>C (p.Asn1352=) single nucleotide variant DCHS2-related disorder [RCV003931467] Chr4:154322451 [GRCh38]
Chr4:155243603 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1830C>T (p.Ser610=) single nucleotide variant DCHS2-related disorder [RCV003923990] Chr4:154489526 [GRCh38]
Chr4:155410678 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.5020+8G>T single nucleotide variant DCHS2-related disorder [RCV003927093] Chr4:154320371 [GRCh38]
Chr4:155241523 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.5804C>G (p.Thr1935Arg) single nucleotide variant DCHS2-related disorder [RCV003976539] Chr4:154298510 [GRCh38]
Chr4:155219662 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4019-822G>A single nucleotide variant DCHS2-related disorder [RCV003976696] Chr4:154323310 [GRCh38]
Chr4:155244462 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.5020+9C>T single nucleotide variant DCHS2-related disorder [RCV003924126] Chr4:154320370 [GRCh38]
Chr4:155241522 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.7851T>C (p.Leu2617=) single nucleotide variant DCHS2-related disorder [RCV003924127] Chr4:154236801 [GRCh38]
Chr4:155157953 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2053-13755G>A single nucleotide variant DCHS2-related disorder [RCV003933986] Chr4:154391199 [GRCh38]
Chr4:155312351 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.64C>T (p.Leu22Phe) single nucleotide variant DCHS2-related disorder [RCV003917143] Chr4:154491292 [GRCh38]
Chr4:155412444 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.6464-5T>C single nucleotide variant DCHS2-related disorder [RCV003934073] Chr4:154270018 [GRCh38]
Chr4:155191170 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.1404T>G (p.Ser468=) single nucleotide variant DCHS2-related disorder [RCV003974313] Chr4:154489952 [GRCh38]
Chr4:155411104 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.6148G>C (p.Glu2050Gln) single nucleotide variant DCHS2-related disorder [RCV003964436] Chr4:154298166 [GRCh38]
Chr4:155219318 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.8400G>A (p.Pro2800=) single nucleotide variant DCHS2-related disorder [RCV003929674] Chr4:154236252 [GRCh38]
Chr4:155157404 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4086G>A (p.Ser1362=) single nucleotide variant DCHS2-related disorder [RCV003974766] Chr4:154322421 [GRCh38]
Chr4:155243573 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2225T>C (p.Leu742Pro) single nucleotide variant DCHS2-related disorder [RCV003923928] Chr4:154377272 [GRCh38]
Chr4:155298424 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1777C>G (p.Gln593Glu) single nucleotide variant DCHS2-related disorder [RCV003974755] Chr4:154489579 [GRCh38]
Chr4:155410731 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.5917A>C (p.Thr1973Pro) single nucleotide variant DCHS2-related disorder [RCV003976381] Chr4:154298397 [GRCh38]
Chr4:155219549 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.9206C>T (p.Pro3069Leu) single nucleotide variant DCHS2-related disorder [RCV003907337] Chr4:154235446 [GRCh38]
Chr4:155156598 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.2303A>G (p.His768Arg) single nucleotide variant DCHS2-related disorder [RCV003982013] Chr4:154366383 [GRCh38]
Chr4:155287535 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2053-13815C>T single nucleotide variant DCHS2-related disorder [RCV003982063] Chr4:154391259 [GRCh38]
Chr4:155312411 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1443A>G (p.Leu481=) single nucleotide variant DCHS2-related disorder [RCV003982184] Chr4:154489913 [GRCh38]
Chr4:155411065 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.8929A>C (p.Asn2977His) single nucleotide variant DCHS2-related disorder [RCV003976326] Chr4:154235723 [GRCh38]
Chr4:155156875 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.6093T>C (p.Val2031=) single nucleotide variant DCHS2-related disorder [RCV003976282] Chr4:154298221 [GRCh38]
Chr4:155219373 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.10007C>T (p.Thr3336Met) single nucleotide variant DCHS2-related disorder [RCV003956745] Chr4:154234645 [GRCh38]
Chr4:155155797 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.6148G>A (p.Glu2050Lys) single nucleotide variant DCHS2-related disorder [RCV003972240] Chr4:154298166 [GRCh38]
Chr4:155219318 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3807C>T (p.Arg1269=) single nucleotide variant DCHS2-related disorder [RCV003914178] Chr4:154329634 [GRCh38]
Chr4:155250786 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2932G>A (p.Ala978Thr) single nucleotide variant DCHS2-related disorder [RCV003956945] Chr4:154333276 [GRCh38]
Chr4:155254428 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.4019-835C>A single nucleotide variant DCHS2-related disorder [RCV003977374] Chr4:154323323 [GRCh38]
Chr4:155244475 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.510C>G (p.Asp170Glu) single nucleotide variant DCHS2-related disorder [RCV003971663] Chr4:154490846 [GRCh38]
Chr4:155411998 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.3892C>G (p.Leu1298Val) single nucleotide variant DCHS2-related disorder [RCV003979036] Chr4:154329549 [GRCh38]
Chr4:155250701 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.9054A>T (p.Arg3018Ser) single nucleotide variant DCHS2-related disorder [RCV003914550] Chr4:154235598 [GRCh38]
Chr4:155156750 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2053-13804_2053-13802del microsatellite DCHS2-related disorder [RCV003922242] Chr4:154391246..154391248 [GRCh38]
Chr4:155312398..155312400 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.9597C>T (p.Asp3199=) single nucleotide variant DCHS2-related disorder [RCV003979631] Chr4:154235055 [GRCh38]
Chr4:155156207 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.1686C>T (p.Ser562=) single nucleotide variant DCHS2-related disorder [RCV003979693] Chr4:154489670 [GRCh38]
Chr4:155410822 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.859C>T (p.Leu287=) single nucleotide variant DCHS2-related disorder [RCV003979869] Chr4:154490497 [GRCh38]
Chr4:155411649 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.367G>T (p.Gly123Cys) single nucleotide variant DCHS2-related disorder [RCV003909576] Chr4:154490989 [GRCh38]
Chr4:155412141 [GRCh37]
Chr4:4q31.3		 likely benign
NM_001358235.2(DCHS2):c.7714T>G (p.Ser2572Ala) single nucleotide variant DCHS2-related disorder [RCV003916855] Chr4:154236938 [GRCh38]
Chr4:155158090 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.7385T>C (p.Val2462Ala) single nucleotide variant DCHS2-related disorder [RCV003916963] Chr4:154239277 [GRCh38]
Chr4:155160429 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3183T>A (p.His1061Gln) single nucleotide variant not specified [RCV004373302] Chr4:154333025 [GRCh38]
Chr4:155254177 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2423A>T (p.Tyr808Phe) single nucleotide variant not specified [RCV004373317] Chr4:154366263 [GRCh38]
Chr4:155287415 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2476+8901A>C single nucleotide variant not specified [RCV004373318] Chr4:154357309 [GRCh38]
Chr4:155278461 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.4019-847del deletion DCHS2-related disorder [RCV003974689] Chr4:154323335 [GRCh38]
Chr4:155244487 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2528C>T (p.Ser843Leu) single nucleotide variant DCHS2-related disorder [RCV003974743] Chr4:154335053 [GRCh38]
Chr4:155256205 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.2848G>T (p.Val950Leu) single nucleotide variant DCHS2-related disorder [RCV003976433] Chr4:154333360 [GRCh38]
Chr4:155254512 [GRCh37]
Chr4:4q31.3		 benign
NM_001358235.2(DCHS2):c.3730+890G>T single nucleotide variant not specified [RCV004611407] Chr4:154331588 [GRCh38]
Chr4:155252740 [GRCh37]
Chr4:4q31.3		 uncertain significance
GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467) copy number loss not provided [RCV004555213] Chr4:153986026..156952467 [GRCh38]
Chr4:4q31.3-32.1		 uncertain significance
NM_001358235.2(DCHS2):c.2992T>A (p.Leu998Met) single nucleotide variant not specified [RCV004611411] Chr4:154333216 [GRCh38]
Chr4:155254368 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3988A>G (p.Asn1330Asp) single nucleotide variant not specified [RCV004611414] Chr4:154328123 [GRCh38]
Chr4:155249275 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3308T>C (p.Met1103Thr) single nucleotide variant not specified [RCV004611408] Chr4:154332900 [GRCh38]
Chr4:155254052 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3214G>A (p.Val1072Ile) single nucleotide variant not specified [RCV004611409] Chr4:154332994 [GRCh38]
Chr4:155254146 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.2194A>G (p.Arg732Gly) single nucleotide variant not specified [RCV004611410] Chr4:154377303 [GRCh38]
Chr4:155298455 [GRCh37]
Chr4:4q31.3		 uncertain significance
NM_001358235.2(DCHS2):c.3850G>A (p.Val1284Ile) single nucleotide variant not specified [RCV004611412] Chr4:154329591 [GRCh38]
Chr4:155250743 [GRCh37]
Chr4:4q31.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1477
Count of miRNA genes:829
Interacting mature miRNAs:964
Transcripts:ENST00000339452, ENST00000357232, ENST00000443500, ENST00000456341, ENST00000504580, ENST00000507542
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
407048354GWAS697330_Hbilirubin measurement QTL GWAS697330 (human)6e-11bilirubin measurementserum total bilirubin level (CMO:0000376)4154468095154468096Human
407235142GWAS884118_Hbone density QTL GWAS884118 (human)2e-68bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4154328137154328138Human
407235648GWAS884624_Hbone density QTL GWAS884624 (human)5e-62bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4154236938154236939Human
407067113GWAS716089_HGraves disease, thyrotoxic periodic paralysis QTL GWAS716089 (human)1e-08Graves disease, thyrotoxic periodic paralysis4154322452154322453Human
407083721GWAS732697_Hresponse to vaccine, cytokine measurement QTL GWAS732697 (human)0.0000003response to vaccine, cytokine measurementblood cytokine measurement (CMO:0001924)4154394970154394971Human
407300301GWAS949277_Hspine bone mineral density QTL GWAS949277 (human)0.000001spine bone mineral densitybone mineral density (CMO:0001226)4154234166154234167Human
407359497GWAS1008473_Hoverall survival, glioma QTL GWAS1008473 (human)0.0000007overall survival, glioma4154373450154373451Human
406913358GWAS562334_Hunipolar depression, bipolar disorder, schizophrenia QTL GWAS562334 (human)0.000006unipolar depression, bipolar disorder, schizophrenia4154367038154367039Human
407244201GWAS893177_Hradiation-induced disorder QTL GWAS893177 (human)0.000008radiation-induced disorder4154385885154385886Human
406970449GWAS619425_Hfolding of antihelix QTL GWAS619425 (human)0.0000006folding of antihelixear measurement (CMO:0002667)4154476365154476366Human
407244916GWAS893892_Hgut microbiome measurement QTL GWAS893892 (human)5e-08gut microbiome measurement4154260844154260845Human
407146455GWAS795431_HAlzheimer disease, age at onset QTL GWAS795431 (human)0.0000005Alzheimer disease, age at onset4154426241154426242Human
407229872GWAS878848_Hbone density QTL GWAS878848 (human)7e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)4154346119154346120Human
407359506GWAS1008482_Hprogression free survival, glioma QTL GWAS1008482 (human)0.000004progression free survival, gliomasurvival measurement (CMO:0001021)4154373450154373451Human
407054612GWAS703588_Hfibrinogen measurement QTL GWAS703588 (human)2e-12fibrinogen measurementblood fibrinogen level (CMO:0000209)4154379907154379908Human
407064180GWAS713156_Hprotein measurement QTL GWAS713156 (human)8e-11protein measurement4154380683154380684Human
407042650GWAS691626_Hvelopharyngeal dysfunction QTL GWAS691626 (human)0.000005velopharyngeal dysfunction4154441568154441569Human
406912825GWAS561801_Hunipolar depression, bipolar disorder, schizophrenia QTL GWAS561801 (human)0.000001unipolar depression, bipolar disorder, schizophrenia4154367038154367039Human
406912763GWAS561739_Hdisease recurrence, unipolar depression, bipolar disorder, schizophrenia, sex interaction measurement QTL GWAS561739 (human)0.00001disease recurrence, unipolar depression, bipolar disorder, schizophrenia, sex interaction measurement4154367038154367039Human

Markers in Region
G20355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,157,378 - 155,157,599UniSTSGRCh37
Build 364155,376,828 - 155,377,049RGDNCBI36
Celera4152,488,958 - 152,489,179RGD
Cytogenetic Map4q31.3UniSTS
HuRef4150,897,993 - 150,898,214UniSTS
A005N30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,157,378 - 155,157,599UniSTSGRCh37
Build 364155,376,828 - 155,377,049RGDNCBI36
Celera4152,488,958 - 152,489,179RGD
Cytogenetic Map4q31.3UniSTS
HuRef4150,897,993 - 150,898,214UniSTS
GeneMap99-GB4 RH Map4635.9UniSTS
NCBI RH Map41584.6UniSTS
G41955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,217,909 - 155,218,047UniSTSGRCh37
Build 364155,437,359 - 155,437,497RGDNCBI36
Celera4152,549,474 - 152,549,612RGD
Cytogenetic Map4q31.3UniSTS
HuRef4150,958,405 - 150,958,543UniSTS
TNG Radiation Hybrid Map492904.0UniSTS
RH121008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,361,301 - 155,361,594UniSTSGRCh37
Build 364155,580,751 - 155,581,044RGDNCBI36
Celera4152,692,913 - 152,693,206RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,101,890 - 151,102,183UniSTS
TNG Radiation Hybrid Map492993.0UniSTS
SHGC-147301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,336,962 - 155,337,263UniSTSGRCh37
Build 364155,556,412 - 155,556,713RGDNCBI36
Celera4152,668,552 - 152,668,853RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,077,499 - 151,077,800UniSTS
TNG Radiation Hybrid Map492976.0UniSTS
D4S991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,410,483 - 155,410,659UniSTSGRCh37
Build 364155,629,933 - 155,630,109RGDNCBI36
Celera4152,741,947 - 152,742,123RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,151,222 - 151,151,398UniSTS
TNG Radiation Hybrid Map493031.0UniSTS
SHGC-14453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,285,205 - 155,285,324UniSTSGRCh37
Build 364155,504,655 - 155,504,774RGDNCBI36
Celera4152,616,763 - 152,616,882RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,025,659 - 151,025,778UniSTS
SHGC-50784  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,285,119 - 155,285,324UniSTSGRCh37
Build 364155,504,569 - 155,504,774RGDNCBI36
Celera4152,616,677 - 152,616,882RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,025,573 - 151,025,778UniSTS
TNG Radiation Hybrid Map492945.0UniSTS
G34254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,405,820 - 155,405,991UniSTSGRCh37
Build 364155,625,270 - 155,625,441RGDNCBI36
Celera4152,737,297 - 152,737,468RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,146,572 - 151,146,743UniSTS
SHGC-59326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,158,624 - 155,158,749UniSTSGRCh37
Build 364155,378,074 - 155,378,199RGDNCBI36
Celera4152,490,204 - 152,490,329RGD
Cytogenetic Map4q31.3UniSTS
HuRef4150,899,239 - 150,899,364UniSTS
GeneMap99-GB4 RH Map4634.06UniSTS
Whitehead-RH Map4686.4UniSTS
NCBI RH Map41584.6UniSTS
D4S1303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,405,820 - 155,405,979UniSTSGRCh37
Build 364155,625,270 - 155,625,429RGDNCBI36
Celera4152,737,297 - 152,737,456RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,146,572 - 151,146,731UniSTS
G41953  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,367,027 - 155,367,287UniSTSGRCh37
Build 364155,586,477 - 155,586,737RGDNCBI36
Celera4152,698,644 - 152,698,904RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,107,617 - 151,107,877UniSTS
TNG Radiation Hybrid Map492997.0UniSTS
D4S1046  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,338,233 - 155,338,514UniSTSGRCh37
Build 364155,557,683 - 155,557,964RGDNCBI36
Celera4152,669,823 - 152,670,104RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,078,770 - 151,079,065UniSTS
TNG Radiation Hybrid Map492976.0UniSTS
Stanford-G3 RH Map48485.0UniSTS
NCBI RH Map41581.6UniSTS
D4S2555E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,158,541 - 155,158,665UniSTSGRCh37
Build 364155,377,991 - 155,378,115RGDNCBI36
Celera4152,490,121 - 152,490,245RGD
Cytogenetic Map4q31.3UniSTS
HuRef4150,899,156 - 150,899,280UniSTS
GeneMap99-GB4 RH Map4635.9UniSTS
NCBI RH Map41584.6UniSTS
D4S904  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,248,497 - 155,248,649UniSTSGRCh37
Build 364155,467,947 - 155,468,099RGDNCBI36
Celera4152,580,051 - 152,580,203RGD
Cytogenetic Map4q31.3UniSTS
HuRef4150,988,970 - 150,989,122UniSTS
TNG Radiation Hybrid Map492927.0UniSTS
Stanford-G3 RH Map48513.0UniSTS
NCBI RH Map41584.1UniSTS
G41974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,309,006 - 155,309,125UniSTSGRCh37
Build 364155,528,456 - 155,528,575RGDNCBI36
Celera4152,640,591 - 152,640,710RGD
Cytogenetic Map4q31.3UniSTS
HuRef4151,049,507 - 151,049,626UniSTS
CDHJ_4540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,155,501 - 155,156,198UniSTSGRCh37
Build 364155,374,951 - 155,375,648RGDNCBI36
Celera4152,487,081 - 152,487,778RGD
HuRef4150,896,116 - 150,896,813UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1197 2303 2718 1917 4842 1543 2034 1 471 1280 311 2206 5957 5449 33 3657 778 1657 1457 166

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001358235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC079298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC110775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF169691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY354497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY354498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA240588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB288709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000339452   ⟹   ENSP00000345062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,322,645 - 154,491,716 (-)Ensembl
Ensembl Acc Id: ENST00000357232   ⟹   ENSP00000349768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,231,742 - 154,491,799 (-)Ensembl
Ensembl Acc Id: ENST00000456341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,486,443 - 154,491,334 (-)Ensembl
Ensembl Acc Id: ENST00000504580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,333,270 - 154,355,730 (-)Ensembl
Ensembl Acc Id: ENST00000507542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,333,056 - 154,355,710 (-)Ensembl
Ensembl Acc Id: ENST00000623568
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,255,609 - 154,284,579 (-)Ensembl
Ensembl Acc Id: ENST00000623607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,232,037 - 154,391,296 (-)Ensembl
Ensembl Acc Id: ENST00000624983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,332,889 - 154,335,168 (-)Ensembl
RefSeq Acc Id: NM_001142552   ⟹   NP_001136024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,322,645 - 154,491,799 (-)NCBI
GRCh374155,155,527 - 155,412,930 (-)RGD
Celera4152,487,107 - 152,744,394 (-)RGD
HuRef4150,896,142 - 151,153,669 (-)RGD
CHM1_14155,221,753 - 155,390,820 (-)NCBI
T2T-CHM13v2.04157,654,393 - 157,823,579 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001358235   ⟹   NP_001345164
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,231,742 - 154,491,799 (-)NCBI
T2T-CHM13v2.04157,563,483 - 157,823,579 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001412223   ⟹   NP_001399152
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04157,654,393 - 157,823,579 (-)NCBI
RefSeq Acc Id: NP_001136024   ⟸   NM_001142552
- Peptide Label: isoform 2
- UniProtKB: A0A0A0MRC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001345164   ⟸   NM_001358235
- Peptide Label: isoform 3
- UniProtKB: Q9NXU8 (UniProtKB/Swiss-Prot),   Q6ZS61 (UniProtKB/Swiss-Prot),   Q6V1P9 (UniProtKB/Swiss-Prot),   Q4W5P9 (UniProtKB/Swiss-Prot),   E9PC11 (UniProtKB/Swiss-Prot),   B2RU14 (UniProtKB/Swiss-Prot),   A0A096LNH0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000345062   ⟸   ENST00000339452
Ensembl Acc Id: ENSP00000349768   ⟸   ENST00000357232
RefSeq Acc Id: NP_001399152   ⟸   NM_001412223
- Peptide Label: isoform 4
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6V1P9-F1-model_v2 AlphaFold Q6V1P9 1-1400 view protein structure
AF-Q6V1P9-F2-model_v2 AlphaFold Q6V1P9 201-1600 view protein structure
AF-Q6V1P9-F3-model_v2 AlphaFold Q6V1P9 401-1800 view protein structure
AF-Q6V1P9-F4-model_v2 AlphaFold Q6V1P9 601-2000 view protein structure
AF-Q6V1P9-F5-model_v2 AlphaFold Q6V1P9 801-2200 view protein structure
AF-Q6V1P9-F6-model_v2 AlphaFold Q6V1P9 1001-2400 view protein structure
AF-Q6V1P9-F7-model_v2 AlphaFold Q6V1P9 1201-2600 view protein structure
AF-Q6V1P9-F8-model_v2 AlphaFold Q6V1P9 1401-2800 view protein structure
AF-Q6V1P9-F9-model_v2 AlphaFold Q6V1P9 1601-3000 view protein structure
AF-Q6V1P9-F10-model_v2 AlphaFold Q6V1P9 1801-3200 view protein structure
AF-Q6V1P9-F11-model_v2 AlphaFold Q6V1P9 2001-3371 view protein structure

Promoters
RGD ID:6868702
Promoter ID:EPDNEW_H7516
Type:initiation region
Name:DCHS2_1
Description:dachsous cadherin-related 2
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
GRCh384154,491,777 - 154,491,837EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23111 AgrOrtholog
COSMIC DCHS2 COSMIC
Ensembl Genes ENSG00000197410 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284227 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339452 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000339452.2 UniProtKB/Swiss-Prot
  ENST00000357232 ENTREZGENE
  ENST00000357232.10 UniProtKB/Swiss-Prot
  ENST00000639062.3 UniProtKB/Swiss-Prot
  ENST00000639512 UniProtKB/TrEMBL
  ENST00000639512.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197410 GTEx
  ENSG00000284227 GTEx
HGNC ID HGNC:23111 ENTREZGENE
Human Proteome Map DCHS2 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot
  Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protocadherin/Cadherin-CA UniProtKB/TrEMBL
KEGG Report hsa:54798 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene DCHS2 ENTREZGENE
OMIM 612486 OMIM
PANTHER CADHERIN-23 UniProtKB/Swiss-Prot
  CADHERIN-87A UniProtKB/Swiss-Prot
  CADHERIN-87A UniProtKB/TrEMBL
  CADHERIN-RELATED TUMOR SUPPRESSOR UniProtKB/TrEMBL
  DACHSOUS CADHERIN-RELATED 2 UniProtKB/TrEMBL
  FAT ATYPICAL CADHERIN-RELATED UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134953793 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A096LNH0 ENTREZGENE
  A0A0A0MRC0 ENTREZGENE, UniProtKB/TrEMBL
  B2RU14 ENTREZGENE
  E9PC11 ENTREZGENE
  PCD23_HUMAN UniProtKB/Swiss-Prot
  Q4W5P9 ENTREZGENE
  Q6V1P8_HUMAN UniProtKB/TrEMBL
  Q6V1P9 ENTREZGENE
  Q6ZS61 ENTREZGENE
  Q9NXU8 ENTREZGENE
UniProt Secondary A0A096LNH0 UniProtKB/Swiss-Prot
  B2RU14 UniProtKB/Swiss-Prot
  E9PC11 UniProtKB/Swiss-Prot
  Q4W5P9 UniProtKB/Swiss-Prot
  Q6ZS61 UniProtKB/Swiss-Prot
  Q9NXU8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-10-22 DCHS2  dachsous cadherin-related 2    dachsous 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED