CDHR5 (cadherin related family member 5) - Rat Genome Database

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Gene: CDHR5 (cadherin related family member 5) Homo sapiens
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Symbol: CDHR5
Name: cadherin related family member 5
RGD ID: 1605676
HGNC Page HGNC:7521
Description: Enables beta-catenin binding activity and cell adhesion molecule binding activity. Involved in intermicrovillar adhesion and regulation of microvillus length. Located in apical plasma membrane; brush border membrane; and microvillus membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cadherin-related family member 5; differentiation-associated catenin regulator; FLJ20219; MLPCDH; MU-PCDH; mu-protocadherin; MUCDHL; mucin and cadherin-like protein; MUPCDH
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
GRCh3811616,583 - 624,955 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11616,577 - 626,078 (-)EnsemblGRCh38hg38GRCh38
GRCh3711616,583 - 624,955 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611606,575 - 615,007 (-)NCBINCBI36Build 36hg18NCBI36
Celera11681,712 - 690,214 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11431,847 - 440,345 (-)NCBIHuRef
CHM1_111615,575 - 624,073 (-)NCBICHM1_1
T2T-CHM13v2.011665,199 - 673,567 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10801787   PMID:10817752   PMID:11031102   PMID:12167596   PMID:12477932   PMID:12589428   PMID:12975309   PMID:14702039   PMID:16335952   PMID:16344560   PMID:19056867   PMID:19913121  
PMID:20628086   PMID:21315419   PMID:21839066   PMID:21873635   PMID:22202456   PMID:23376485   PMID:23533145   PMID:24725409   PMID:26463459   PMID:26760575   PMID:27310872   PMID:28514442  
PMID:29507755   PMID:30639242   PMID:32209652   PMID:33025744   PMID:33188295   PMID:33961781   PMID:34871294  


Genomics

Comparative Map Data
CDHR5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811616,583 - 624,955 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11616,577 - 626,078 (-)EnsemblGRCh38hg38GRCh38
GRCh3711616,583 - 624,955 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3611606,575 - 615,007 (-)NCBINCBI36Build 36hg18NCBI36
Celera11681,712 - 690,214 (-)NCBICelera
Cytogenetic Map11p15.5NCBI
HuRef11431,847 - 440,345 (-)NCBIHuRef
CHM1_111615,575 - 624,073 (-)NCBICHM1_1
T2T-CHM13v2.011665,199 - 673,567 (-)NCBIT2T-CHM13v2.0
Cdhr5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397140,848,993 - 140,856,708 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7140,848,996 - 140,856,699 (-)EnsemblGRCm39 Ensembl
GRCm387141,269,080 - 141,276,795 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7141,269,083 - 141,276,786 (-)EnsemblGRCm38mm10GRCm38
MGSCv377148,454,984 - 148,462,685 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367141,120,405 - 141,128,094 (-)NCBIMGSCv36mm8
Celera7141,062,818 - 141,070,519 (-)NCBICelera
Cytogenetic Map7F5NCBI
cM Map786.58NCBI
Cdhr5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81205,802,686 - 205,811,184 (-)NCBIGRCr8
mRatBN7.21196,373,110 - 196,381,609 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1196,373,112 - 196,381,543 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1204,718,592 - 204,726,996 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01211,845,367 - 211,853,773 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01204,519,505 - 204,527,911 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,255,118 - 214,263,848 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,255,110 - 214,263,581 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01221,172,656 - 221,181,113 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41201,462,419 - 201,470,823 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11201,613,420 - 201,621,823 (-)NCBI
Celera1194,006,967 - 194,015,371 (-)NCBICelera
Cytogenetic Map1q41NCBI
Cdhr5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547611,435,642 - 11,442,873 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495547611,435,677 - 11,442,338 (+)NCBIChiLan1.0ChiLan1.0
CDHR5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v292,995,317 - 3,004,233 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1112,211,515 - 2,220,429 (-)NCBINHGRI_mPanPan1
PanPan1.1 Ensembl11652,671 - 659,959 (-)Ensemblpanpan1.1panPan2
CDHR5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1825,360,564 - 25,366,707 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01826,296,145 - 26,302,287 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1826,296,548 - 26,302,221 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11825,805,656 - 25,811,799 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01825,450,606 - 25,456,749 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01826,062,942 - 26,069,209 (-)NCBIUU_Cfam_GSD_1.0
Cdhr5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947449,879 - 457,827 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936888449,976 - 457,618 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936888449,846 - 457,881 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDHR5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2375,726 - 382,719 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12376,449 - 382,713 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22291,843 - 298,829 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDHR5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11435,562 - 443,116 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1435,622 - 443,156 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603897,495,976 - 97,503,716 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdhr5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476621,843,518 - 21,850,506 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476621,843,506 - 21,849,827 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDHR5
102 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3 copy number gain See cases [RCV000050947] Chr11:196966..3377077 [GRCh38]
Chr11:196966..3398307 [GRCh37]
Chr11:186966..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3 copy number gain See cases [RCV000050927] Chr11:196966..4435344 [GRCh38]
Chr11:196966..4456574 [GRCh37]
Chr11:186966..4413150 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3 copy number gain See cases [RCV000053614] Chr11:218365..3377077 [GRCh38]
Chr11:218365..3398307 [GRCh37]
Chr11:208365..3354883 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196966-3624139)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053592]|See cases [RCV000053592] Chr11:196966..3624139 [GRCh38]
Chr11:196966..3645369 [GRCh37]
Chr11:186966..3601945 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 copy number gain See cases [RCV000133997] Chr11:446754..18904742 [GRCh38]
Chr11:446754..18926289 [GRCh37]
Chr11:436754..18882865 [NCBI36]
Chr11:11p15.5-15.1		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 copy number gain See cases [RCV000139987] Chr11:61793..10727969 [GRCh38]
Chr11:61793..10749516 [GRCh37]
Chr11:51793..10706092 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 copy number gain See cases [RCV000142890] Chr11:196855..5321874 [GRCh38]
Chr11:196855..5343104 [GRCh37]
Chr11:186855..5299680 [NCBI36]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:196855-2116185)x3 copy number gain See cases [RCV000142923] Chr11:196855..2116185 [GRCh38]
Chr11:196855..2137415 [GRCh37]
Chr11:186855..2093991 [NCBI36]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5(chr11:532230-699463)x3 copy number gain See cases [RCV000240134] Chr11:532230..699463 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 copy number gain See cases [RCV000446036] Chr11:193187..5291338 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 copy number gain See cases [RCV000449417] Chr11:230615..6644927 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:494540-616565)x3 copy number gain See cases [RCV000447296] Chr11:494540..616565 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:532230-699404)x3 copy number gain See cases [RCV000445988] Chr11:532230..699404 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:614846-624684)x3 copy number gain See cases [RCV000448927] Chr11:614846..624684 [GRCh37]
Chr11:11p15.5		 likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_021924.5(CDHR5):c.1675A>G (p.Thr559Ala) single nucleotide variant not specified [RCV004317545] Chr11:618884 [GRCh38]
Chr11:618884 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.617G>A (p.Arg206Gln) single nucleotide variant not specified [RCV004291731] Chr11:621346 [GRCh38]
Chr11:621346 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2315C>A (p.Thr772Lys) single nucleotide variant not specified [RCV004322050] Chr11:617574 [GRCh38]
Chr11:617574 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.215G>A (p.Arg72Gln) single nucleotide variant not specified [RCV004298059] Chr11:624603 [GRCh38]
Chr11:624603 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 copy number gain not provided [RCV000683372] Chr11:230615..17099213 [GRCh37]
Chr11:11p15.5-15.1		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 copy number gain not provided [RCV000683369] Chr11:230615..9704511 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5(chr11:381754-821676)x3 copy number gain not provided [RCV000749876] Chr11:381754..821676 [GRCh37]
Chr11:11p15.5		 benign
GRCh37/hg19 11p15.5(chr11:556531-927020)x3 copy number gain not provided [RCV000749890] Chr11:556531..927020 [GRCh37]
Chr11:11p15.5		 benign
NM_021924.5(CDHR5):c.894T>C (p.Gly298=) single nucleotide variant not provided [RCV000968202] Chr11:620151 [GRCh38]
Chr11:620151 [GRCh37]
Chr11:11p15.5		 benign
NM_021924.5(CDHR5):c.545G>A (p.Arg182His) single nucleotide variant not provided [RCV000968203] Chr11:621418 [GRCh38]
Chr11:621418 [GRCh37]
Chr11:11p15.5		 benign
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) copy number gain Silver-Russell syndrome 1 [RCV000767567] Chr11:193146..12643136 [GRCh37]
Chr11:11p15.5-15.3		 pathogenic
NM_021924.5(CDHR5):c.1523C>T (p.Thr508Ile) single nucleotide variant not specified [RCV004284067] Chr11:619036 [GRCh38]
Chr11:619036 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(?_532616)_(795026_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001031133] Chr11:532616..795026 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2263C>T (p.Pro755Ser) single nucleotide variant not specified [RCV004314681] Chr11:617626 [GRCh38]
Chr11:617626 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.160G>A (p.Val54Ile) single nucleotide variant not specified [RCV004286423] Chr11:624658 [GRCh38]
Chr11:624658 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1418C>A (p.Pro473His) single nucleotide variant not specified [RCV004286466] Chr11:619141 [GRCh38]
Chr11:619141 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NC_000011.9:g.(?_532616)_(2906985_?)dup duplication Neuronal ceroid lipofuscinosis [RCV001032557] Chr11:532616..2906985 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3 copy number gain See cases [RCV001263059] Chr11:230615..4851537 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5(chr11:230615-1150353)x3 copy number gain not provided [RCV001259592] Chr11:230615..1150353 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 copy number gain Silver-Russell syndrome 1 [RCV001263222] Chr11:210300..8664358 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021924.5(CDHR5):c.1001G>A (p.Arg334His) single nucleotide variant not specified [RCV004610199] Chr11:619859 [GRCh38]
Chr11:619859 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1709C>T (p.Thr570Ile) single nucleotide variant not specified [RCV004610195] Chr11:618850 [GRCh38]
Chr11:618850 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1985G>A (p.Arg662His) single nucleotide variant not specified [RCV004610200] Chr11:618087 [GRCh38]
Chr11:618087 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.521A>T (p.Tyr174Phe) single nucleotide variant not specified [RCV004610190] Chr11:621442 [GRCh38]
Chr11:621442 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.1091C>T (p.Ala364Val) single nucleotide variant not specified [RCV004610192] Chr11:619769 [GRCh38]
Chr11:619769 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_298501)_(4113028_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001316682] Chr11:298501..4113028 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_612625)_(2193840_?)dup duplication Autosomal recessive DOPA responsive dystonia [RCV001301561]|Immunodeficiency 39 [RCV001033372] Chr11:612625..2193840 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:10701-5080415)x2 copy number gain See cases [RCV001310286] Chr11:10701..5080415 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 copy number gain not provided [RCV001825269] Chr11:230615..5525355 [GRCh37]
Chr11:11p15.5-15.4		 not provided
NC_000011.9:g.(?_532636)_(695047_?)dup duplication not provided [RCV001955722] Chr11:532636..695047 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_612645)_(644674_?)del deletion not provided [RCV001952780] Chr11:612645..644674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(720766_?)dup duplication Immunodeficiency 39 [RCV001923869] Chr11:216698..720766 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(819925_?)dup duplication Neutral lipid storage myopathy [RCV003109697] Chr11:532636..819925 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del deletion Thalassemia, gamma-delta-beta [RCV000015529] Chr11:4999400..5279346 [GRCh38]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
GRCh37/hg19 11p15.5(chr11:461373-2157956)x4 copy number gain not provided [RCV002473945] Chr11:461373..2157956 [GRCh37]
Chr11:11p15.5		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 copy number gain not provided [RCV002472435] Chr11:230616..8250724 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
NM_021924.5(CDHR5):c.2423C>T (p.Ala808Val) single nucleotide variant not specified [RCV004236021] Chr11:617466 [GRCh38]
Chr11:617466 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.461G>A (p.Arg154His) single nucleotide variant not specified [RCV004243976] Chr11:621608 [GRCh38]
Chr11:621608 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2204A>T (p.Asp735Val) single nucleotide variant not specified [RCV004242700] Chr11:617685 [GRCh38]
Chr11:617685 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1388C>A (p.Pro463Gln) single nucleotide variant not specified [RCV004171377] Chr11:619171 [GRCh38]
Chr11:619171 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1742C>T (p.Pro581Leu) single nucleotide variant not specified [RCV004133177] Chr11:618817 [GRCh38]
Chr11:618817 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1839G>A (p.Met613Ile) single nucleotide variant not specified [RCV004146187] Chr11:618720 [GRCh38]
Chr11:618720 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2185G>A (p.Val729Ile) single nucleotide variant not specified [RCV004139849] Chr11:617704 [GRCh38]
Chr11:617704 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1933C>T (p.Pro645Ser) single nucleotide variant not specified [RCV004084012] Chr11:618626 [GRCh38]
Chr11:618626 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.511G>A (p.Ala171Thr) single nucleotide variant not specified [RCV004090767] Chr11:621452 [GRCh38]
Chr11:621452 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.770T>C (p.Val257Ala) single nucleotide variant not specified [RCV004145444] Chr11:621099 [GRCh38]
Chr11:621099 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.808C>T (p.Arg270Cys) single nucleotide variant not specified [RCV004234465] Chr11:620368 [GRCh38]
Chr11:620368 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2398G>C (p.Glu800Gln) single nucleotide variant not specified [RCV004107179] Chr11:617491 [GRCh38]
Chr11:617491 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2483C>T (p.Ala828Val) single nucleotide variant not specified [RCV004169902] Chr11:617406 [GRCh38]
Chr11:617406 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.991G>A (p.Asp331Asn) single nucleotide variant not specified [RCV004183731] Chr11:619869 [GRCh38]
Chr11:619869 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.542A>G (p.Asn181Ser) single nucleotide variant not specified [RCV004178114] Chr11:621421 [GRCh38]
Chr11:621421 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.229C>A (p.Gln77Lys) single nucleotide variant not specified [RCV004183574] Chr11:624589 [GRCh38]
Chr11:624589 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1753A>G (p.Ser585Gly) single nucleotide variant not specified [RCV004197397] Chr11:618806 [GRCh38]
Chr11:618806 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.2422G>A (p.Ala808Thr) single nucleotide variant not specified [RCV004235007] Chr11:617467 [GRCh38]
Chr11:617467 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.108C>G (p.Ile36Met) single nucleotide variant not specified [RCV004190575] Chr11:624710 [GRCh38]
Chr11:624710 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2515G>A (p.Gly839Ser) single nucleotide variant not specified [RCV004229649] Chr11:617374 [GRCh38]
Chr11:617374 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2291C>T (p.Ala764Val) single nucleotide variant not specified [RCV004246526] Chr11:617598 [GRCh38]
Chr11:617598 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.203C>A (p.Pro68His) single nucleotide variant not specified [RCV004227688] Chr11:624615 [GRCh38]
Chr11:624615 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1598C>G (p.Ala533Gly) single nucleotide variant not specified [RCV004151342] Chr11:618961 [GRCh38]
Chr11:618961 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.334G>A (p.Val112Met) single nucleotide variant not specified [RCV004082158] Chr11:621883 [GRCh38]
Chr11:621883 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1453C>G (p.Pro485Ala) single nucleotide variant not specified [RCV004087207] Chr11:619106 [GRCh38]
Chr11:619106 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.434C>T (p.Pro145Leu) single nucleotide variant not specified [RCV004225518] Chr11:621635 [GRCh38]
Chr11:621635 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2201A>C (p.His734Pro) single nucleotide variant not specified [RCV004242699] Chr11:617688 [GRCh38]
Chr11:617688 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.1040C>T (p.Ala347Val) single nucleotide variant not specified [RCV004218297] Chr11:619820 [GRCh38]
Chr11:619820 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2216C>T (p.Ala739Val) single nucleotide variant not specified [RCV004166692] Chr11:617673 [GRCh38]
Chr11:617673 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1220C>T (p.Ser407Leu) single nucleotide variant not specified [RCV004229368] Chr11:619547 [GRCh38]
Chr11:619547 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.523T>G (p.Phe175Val) single nucleotide variant not specified [RCV004148831] Chr11:621440 [GRCh38]
Chr11:621440 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1984C>T (p.Arg662Cys) single nucleotide variant not specified [RCV004216568] Chr11:618088 [GRCh38]
Chr11:618088 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1472C>A (p.Pro491His) single nucleotide variant not specified [RCV004239121] Chr11:619087 [GRCh38]
Chr11:619087 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2145C>A (p.Asn715Lys) single nucleotide variant not specified [RCV004121588] Chr11:617744 [GRCh38]
Chr11:617744 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.29C>G (p.Pro10Arg) single nucleotide variant not specified [RCV004215617] Chr11:624874 [GRCh38]
Chr11:624874 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.653C>T (p.Thr218Ile) single nucleotide variant not specified [RCV004220471] Chr11:621216 [GRCh38]
Chr11:621216 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1646A>G (p.Gln549Arg) single nucleotide variant not specified [RCV004184048] Chr11:618913 [GRCh38]
Chr11:618913 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1340T>C (p.Ile447Thr) single nucleotide variant not specified [RCV004187934] Chr11:619344 [GRCh38]
Chr11:619344 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2356G>A (p.Gly786Ser) single nucleotide variant not specified [RCV004242646] Chr11:617533 [GRCh38]
Chr11:617533 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1835C>T (p.Pro612Leu) single nucleotide variant not specified [RCV004188835] Chr11:618724 [GRCh38]
Chr11:618724 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1051C>G (p.Pro351Ala) single nucleotide variant not specified [RCV004187384] Chr11:619809 [GRCh38]
Chr11:619809 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.995T>C (p.Leu332Pro) single nucleotide variant not specified [RCV004136635] Chr11:619865 [GRCh38]
Chr11:619865 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1178C>T (p.Ser393Leu) single nucleotide variant not specified [RCV004185896] Chr11:619682 [GRCh38]
Chr11:619682 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1288G>A (p.Ala430Thr) single nucleotide variant not specified [RCV004140902] Chr11:619479 [GRCh38]
Chr11:619479 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1661G>C (p.Gly554Ala) single nucleotide variant not specified [RCV004146326] Chr11:618898 [GRCh38]
Chr11:618898 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2305G>A (p.Gly769Arg) single nucleotide variant not specified [RCV004166942] Chr11:617584 [GRCh38]
Chr11:617584 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2348G>A (p.Arg783Gln) single nucleotide variant not specified [RCV004230517] Chr11:617541 [GRCh38]
Chr11:617541 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1876A>C (p.Thr626Pro) single nucleotide variant not specified [RCV004222991] Chr11:618683 [GRCh38]
Chr11:618683 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2269G>A (p.Gly757Ser) single nucleotide variant not specified [RCV004216589] Chr11:617620 [GRCh38]
Chr11:617620 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.444A>C (p.Gln148His) single nucleotide variant not specified [RCV004224693] Chr11:621625 [GRCh38]
Chr11:621625 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2482G>A (p.Ala828Thr) single nucleotide variant not specified [RCV004294083] Chr11:617407 [GRCh38]
Chr11:617407 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.922A>G (p.Asn308Asp) single nucleotide variant not specified [RCV004268954] Chr11:620123 [GRCh38]
Chr11:620123 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1409C>A (p.Thr470Lys) single nucleotide variant not specified [RCV004276510] Chr11:619150 [GRCh38]
Chr11:619150 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2150C>T (p.Ala717Val) single nucleotide variant not specified [RCV004277715] Chr11:617739 [GRCh38]
Chr11:617739 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2180C>T (p.Ala727Val) single nucleotide variant not specified [RCV004277472] Chr11:617709 [GRCh38]
Chr11:617709 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.151G>T (p.Asp51Tyr) single nucleotide variant not specified [RCV004262702] Chr11:624667 [GRCh38]
Chr11:624667 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2103C>G (p.Cys701Trp) single nucleotide variant not specified [RCV004262353] Chr11:617969 [GRCh38]
Chr11:617969 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2369C>T (p.Ala790Val) single nucleotide variant not specified [RCV004251422] Chr11:617520 [GRCh38]
Chr11:617520 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.943G>A (p.Val315Ile) single nucleotide variant not specified [RCV004256327] Chr11:620102 [GRCh38]
Chr11:620102 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.2203G>A (p.Asp735Asn) single nucleotide variant not specified [RCV004610191] Chr11:617686 [GRCh38]
Chr11:617686 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:268586-748873) copy number loss Beckwith-Wiedemann syndrome due to 11p15 microdeletion [RCV003319587] Chr11:268586..748873 [GRCh37]
Chr11:11p15.5		 pathogenic
NM_021924.5(CDHR5):c.1780C>G (p.Pro594Ala) single nucleotide variant not specified [RCV004323439] Chr11:618779 [GRCh38]
Chr11:618779 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.595A>G (p.Met199Val) single nucleotide variant not specified [RCV004366179] Chr11:621368 [GRCh38]
Chr11:621368 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1790C>T (p.Pro597Leu) single nucleotide variant not specified [RCV004340456] Chr11:618769 [GRCh38]
Chr11:618769 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1973C>T (p.Ser658Leu) single nucleotide variant not specified [RCV004341372] Chr11:618099 [GRCh38]
Chr11:618099 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2030C>T (p.Ala677Val) single nucleotide variant not specified [RCV004357758] Chr11:618042 [GRCh38]
Chr11:618042 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.398T>C (p.Val133Ala) single nucleotide variant not specified [RCV004356248] Chr11:621819 [GRCh38]
Chr11:621819 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.583G>A (p.Glu195Lys) single nucleotide variant not specified [RCV004343986] Chr11:621380 [GRCh38]
Chr11:621380 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.1118T>C (p.Val373Ala) single nucleotide variant not specified [RCV004347043] Chr11:619742 [GRCh38]
Chr11:619742 [GRCh37]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 copy number gain Russell-Silver syndrome [RCV003444025] Chr11:230615..8821443 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh37/hg19 11p15.5-15.4(chr11:192764-3362853)x3 copy number gain not provided [RCV003484828] Chr11:192764..3362853 [GRCh37]
Chr11:11p15.5-15.4		 pathogenic
GRCh38/hg38 11p15.5(chr11:313988-723647) copy number loss Autism spectrum disorder [RCV003883401] Chr11:313988..723647 [GRCh38]
Chr11:11p15.5		 uncertain significance
GRCh37/hg19 11p15.5(chr11:372929-762338)x3 copy number gain not specified [RCV003986922] Chr11:372929..762338 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1637G>C (p.Gly546Ala) single nucleotide variant not specified [RCV004428270] Chr11:618922 [GRCh38]
Chr11:618922 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.814G>C (p.Gly272Arg) single nucleotide variant not specified [RCV004428283] Chr11:620362 [GRCh38]
Chr11:620362 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.844G>A (p.Gly282Ser) single nucleotide variant not specified [RCV004428284] Chr11:620332 [GRCh38]
Chr11:620332 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1192G>A (p.Ala398Thr) single nucleotide variant not specified [RCV004428263] Chr11:619575 [GRCh38]
Chr11:619575 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1977G>C (p.Glu659Asp) single nucleotide variant not specified [RCV004428274] Chr11:618095 [GRCh38]
Chr11:618095 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2407G>A (p.Val803Met) single nucleotide variant not specified [RCV004428275] Chr11:617482 [GRCh38]
Chr11:617482 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.776C>T (p.Thr259Met) single nucleotide variant not specified [RCV004428282] Chr11:621093 [GRCh38]
Chr11:621093 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1550C>A (p.Thr517Lys) single nucleotide variant not specified [RCV004428267] Chr11:619009 [GRCh38]
Chr11:619009 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1643C>T (p.Ser548Phe) single nucleotide variant not specified [RCV004428271] Chr11:618916 [GRCh38]
Chr11:618916 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1079G>A (p.Arg360His) single nucleotide variant not specified [RCV004428261] Chr11:619781 [GRCh38]
Chr11:619781 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1583C>T (p.Thr528Ile) single nucleotide variant not specified [RCV004428269] Chr11:618976 [GRCh38]
Chr11:618976 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.586C>T (p.Arg196Trp) single nucleotide variant not specified [RCV004428279] Chr11:621377 [GRCh38]
Chr11:621377 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.688G>A (p.Ala230Thr) single nucleotide variant not specified [RCV004428281] Chr11:621181 [GRCh38]
Chr11:621181 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.925C>T (p.Leu309Phe) single nucleotide variant not specified [RCV004428285] Chr11:620120 [GRCh38]
Chr11:620120 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.188G>C (p.Gly63Ala) single nucleotide variant not specified [RCV004428273] Chr11:624630 [GRCh38]
Chr11:624630 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.611T>C (p.Leu204Pro) single nucleotide variant not specified [RCV004428280] Chr11:621352 [GRCh38]
Chr11:621352 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1058G>A (p.Arg353His) single nucleotide variant not specified [RCV004428260] Chr11:619802 [GRCh38]
Chr11:619802 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1753A>C (p.Ser585Arg) single nucleotide variant not specified [RCV004428272] Chr11:618806 [GRCh38]
Chr11:618806 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.957G>A (p.Met319Ile) single nucleotide variant not specified [RCV004428287] Chr11:620088 [GRCh38]
Chr11:620088 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1256C>A (p.Thr419Asn) single nucleotide variant not specified [RCV004428264] Chr11:619511 [GRCh38]
Chr11:619511 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1430C>T (p.Thr477Ile) single nucleotide variant not specified [RCV004428265] Chr11:619129 [GRCh38]
Chr11:619129 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1450C>T (p.Pro484Ser) single nucleotide variant not specified [RCV004428266] Chr11:619109 [GRCh38]
Chr11:619109 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1576A>T (p.Asn526Tyr) single nucleotide variant not specified [RCV004428268] Chr11:618983 [GRCh38]
Chr11:618983 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.566G>A (p.Arg189Gln) single nucleotide variant not specified [RCV004428278] Chr11:621397 [GRCh38]
Chr11:621397 [GRCh37]
Chr11:11p15.5		 likely benign
NM_021924.5(CDHR5):c.166G>C (p.Glu56Gln) single nucleotide variant not specified [RCV004610197] Chr11:624652 [GRCh38]
Chr11:624652 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.794C>T (p.Ser265Phe) single nucleotide variant not specified [RCV004610203] Chr11:620382 [GRCh38]
Chr11:620382 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(2906719_?)dup duplication Beckwith-Wiedemann syndrome [RCV004580105] Chr11:216698..2906719 [GRCh37]
Chr11:11p15.5-15.4		 uncertain significance
NC_000011.9:g.(?_532636)_(824862_?)dup duplication Costello syndrome [RCV004580178] Chr11:532636..824862 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_532636)_(644674_?)dup duplication not provided [RCV004580366] Chr11:532636..644674 [GRCh37]
Chr11:11p15.5		 uncertain significance
NC_000011.9:g.(?_216698)_(679836_?)del deletion not provided [RCV004580364] Chr11:216698..679836 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1342G>A (p.Glu448Lys) single nucleotide variant not specified [RCV004610194] Chr11:619342 [GRCh38]
Chr11:619342 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2464G>A (p.Gly822Ser) single nucleotide variant not specified [RCV004610196] Chr11:617425 [GRCh38]
Chr11:617425 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.143C>T (p.Pro48Leu) single nucleotide variant not specified [RCV004610201] Chr11:624675 [GRCh38]
Chr11:624675 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.1544C>T (p.Ser515Leu) single nucleotide variant not specified [RCV004610193] Chr11:619015 [GRCh38]
Chr11:619015 [GRCh37]
Chr11:11p15.5		 uncertain significance
NM_021924.5(CDHR5):c.2018G>T (p.Gly673Val) single nucleotide variant not specified [RCV004610202] Chr11:618054 [GRCh38]
Chr11:618054 [GRCh37]
Chr11:11p15.5		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4882
Count of miRNA genes:1067
Interacting mature miRNAs:1323
Transcripts:ENST00000349570, ENST00000358353, ENST00000397542, ENST00000526077, ENST00000529337, ENST00000531088, ENST00000531177, ENST00000531899, ENST00000532949, ENST00000534311
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
1558691SCL8_HSerum cholesterol level QTL 8 (human)1.2Lipid levelHDL cholesterol1115227071Human
407123939GWAS772915_Hsystemic lupus erythematosus QTL GWAS772915 (human)1e-16systemic lupus erythematosus11617228617229Human
407137337GWAS786313_Hlevel of cadherin-related family member 5 in blood serum QTL GWAS786313 (human)3e-56level of cadherin-related family member 5 in blood serum11624400624401Human
407067677GWAS716653_Hhypothyroidism QTL GWAS716653 (human)1e-08hypothyroidism11617378617379Human
407134219GWAS783195_Hsystemic scleroderma QTL GWAS783195 (human)2e-08systemic scleroderma11618172618173Human

Markers in Region
RH99331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711617,341 - 617,485UniSTSGRCh37
Build 3611607,341 - 607,485RGDNCBI36
Celera11682,488 - 682,632RGD
Cytogenetic Map11p15.5UniSTS
HuRef11432,623 - 432,767UniSTS
GeneMap99-GB4 RH Map1120.5UniSTS


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
visual system
1200 2427 2771 2187 4840 1707 2265 4 620 1722 463 2205 6976 6165 32 3663 815 1681 1543 172 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001171968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006718253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA975851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF276242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF301909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI640262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP006284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW137262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA373160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ491193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000349570   ⟹   ENSP00000345726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11617,256 - 625,169 (-)Ensembl
Ensembl Acc Id: ENST00000358353   ⟹   ENSP00000351118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11616,577 - 624,924 (-)Ensembl
Ensembl Acc Id: ENST00000397542   ⟹   ENSP00000380676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11616,583 - 624,955 (-)Ensembl
Ensembl Acc Id: ENST00000526077   ⟹   ENSP00000435082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11621,217 - 624,955 (-)Ensembl
Ensembl Acc Id: ENST00000529337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11624,213 - 625,169 (-)Ensembl
Ensembl Acc Id: ENST00000531088   ⟹   ENSP00000431505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11621,420 - 624,955 (-)Ensembl
Ensembl Acc Id: ENST00000531177   ⟹   ENSP00000437255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11617,256 - 624,932 (-)Ensembl
Ensembl Acc Id: ENST00000531899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11619,416 - 624,955 (-)Ensembl
Ensembl Acc Id: ENST00000532949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11619,688 - 621,137 (-)Ensembl
Ensembl Acc Id: ENST00000534311   ⟹   ENSP00000436295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11621,397 - 624,955 (-)Ensembl
Ensembl Acc Id: ENST00000674088   ⟹   ENSP00000501074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11617,259 - 626,078 (-)Ensembl
RefSeq Acc Id: NM_001171968   ⟹   NP_001165439
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811616,583 - 624,955 (-)NCBI
GRCh3711616,565 - 625,067 (-)RGD
Celera11681,712 - 690,214 (-)RGD
HuRef11431,847 - 440,345 (-)RGD
CHM1_111615,575 - 624,073 (-)NCBI
T2T-CHM13v2.011665,199 - 673,567 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021924   ⟹   NP_068743
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811616,583 - 624,955 (-)NCBI
GRCh3711616,565 - 625,067 (-)RGD
Build 3611606,575 - 615,007 (-)NCBI Archive
Celera11681,712 - 690,214 (-)RGD
HuRef11431,847 - 440,345 (-)RGD
CHM1_111615,575 - 624,073 (-)NCBI
T2T-CHM13v2.011665,199 - 673,567 (-)NCBI
Sequence:
RefSeq Acc Id: NM_031264   ⟹   NP_112554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811616,583 - 624,955 (-)NCBI
GRCh3711616,565 - 625,067 (-)RGD
Build 3611606,575 - 615,007 (-)NCBI Archive
Celera11681,712 - 690,214 (-)RGD
HuRef11431,847 - 440,345 (-)RGD
CHM1_111615,575 - 624,073 (-)NCBI
T2T-CHM13v2.011665,199 - 673,567 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006718253   ⟹   XP_006718316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811616,583 - 624,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520188   ⟹   XP_011518490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811616,583 - 624,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520189   ⟹   XP_011518491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811616,583 - 624,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520190   ⟹   XP_011518492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811616,583 - 624,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024448584   ⟹   XP_024304352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811618,325 - 624,955 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054369139   ⟹   XP_054225114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011665,199 - 673,567 (-)NCBI
RefSeq Acc Id: XM_054369140   ⟹   XP_054225115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011665,199 - 673,567 (-)NCBI
RefSeq Acc Id: XM_054369141   ⟹   XP_054225116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011665,199 - 673,567 (-)NCBI
RefSeq Acc Id: XM_054369142   ⟹   XP_054225117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011666,941 - 673,567 (-)NCBI
RefSeq Acc Id: XM_054369143   ⟹   XP_054225118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011665,199 - 673,567 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001165439 (Get FASTA)   NCBI Sequence Viewer  
  NP_068743 (Get FASTA)   NCBI Sequence Viewer  
  NP_112554 (Get FASTA)   NCBI Sequence Viewer  
  XP_006718316 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518490 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518491 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518492 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304352 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184879 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184880 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184881 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184882 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184883 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225115 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225116 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225118 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG16730 (Get FASTA)   NCBI Sequence Viewer  
  AAG16731 (Get FASTA)   NCBI Sequence Viewer  
  AAG16732 (Get FASTA)   NCBI Sequence Viewer  
  AAG16733 (Get FASTA)   NCBI Sequence Viewer  
  AAG30821 (Get FASTA)   NCBI Sequence Viewer  
  AAG33495 (Get FASTA)   NCBI Sequence Viewer  
  AAH38405 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88734 (Get FASTA)   NCBI Sequence Viewer  
  ABF47213 (Get FASTA)   NCBI Sequence Viewer  
  BAA91021 (Get FASTA)   NCBI Sequence Viewer  
  BAA91130 (Get FASTA)   NCBI Sequence Viewer  
  BAB15052 (Get FASTA)   NCBI Sequence Viewer  
  BAG62610 (Get FASTA)   NCBI Sequence Viewer  
  EAX02361 (Get FASTA)   NCBI Sequence Viewer  
  EAX02362 (Get FASTA)   NCBI Sequence Viewer  
  EAX02363 (Get FASTA)   NCBI Sequence Viewer  
  EAX02364 (Get FASTA)   NCBI Sequence Viewer  
  EAX02365 (Get FASTA)   NCBI Sequence Viewer  
  EAX02366 (Get FASTA)   NCBI Sequence Viewer  
  EAX02367 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345726
  ENSP00000345726.7
  ENSP00000351118
  ENSP00000351118.4
  ENSP00000380676
  ENSP00000380676.2
  ENSP00000431505.1
  ENSP00000435082.1
  ENSP00000436295.1
  ENSP00000437255.1
  ENSP00000480151.1
  ENSP00000482865.1
  ENSP00000487773.1
  ENSP00000487868.1
  ENSP00000488183.1
  ENSP00000488189.1
  ENSP00000488376.1
  ENSP00000501074.1
GenBank Protein Q9HBB8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_068743   ⟸   NM_021924
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9NX86 (UniProtKB/Swiss-Prot),   Q9HBB8 (UniProtKB/Swiss-Prot),   Q9HBB7 (UniProtKB/Swiss-Prot),   Q9HBB6 (UniProtKB/Swiss-Prot),   Q9HBB5 (UniProtKB/Swiss-Prot),   Q9HAU3 (UniProtKB/Swiss-Prot),   Q9H746 (UniProtKB/Swiss-Prot),   C9J7X1 (UniProtKB/Swiss-Prot),   Q9NXI9 (UniProtKB/Swiss-Prot),   A0A0G2JMW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_112554   ⟸   NM_031264
- Peptide Label: isoform 3 precursor
- UniProtKB: Q58EZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001165439   ⟸   NM_001171968
- Peptide Label: isoform 4 precursor
- UniProtKB: A0A0G2JMW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006718316   ⟸   XM_006718253
- Peptide Label: isoform X1
- UniProtKB: A0A0G2JMW3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518492   ⟸   XM_011520190
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011518491   ⟸   XM_011520189
- Peptide Label: isoform X3
- UniProtKB: Q58EZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011518490   ⟸   XM_011520188
- Peptide Label: isoform X2
- UniProtKB: Q58EZ6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304352   ⟸   XM_024448584
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000501074   ⟸   ENST00000674088
Ensembl Acc Id: ENSP00000345726   ⟸   ENST00000349570
Ensembl Acc Id: ENSP00000437255   ⟸   ENST00000531177
Ensembl Acc Id: ENSP00000431505   ⟸   ENST00000531088
Ensembl Acc Id: ENSP00000436295   ⟸   ENST00000534311
Ensembl Acc Id: ENSP00000435082   ⟸   ENST00000526077
Ensembl Acc Id: ENSP00000380676   ⟸   ENST00000397542
Ensembl Acc Id: ENSP00000351118   ⟸   ENST00000358353
RefSeq Acc Id: XP_054225118   ⟸   XM_054369143
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225116   ⟸   XM_054369141
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225115   ⟸   XM_054369140
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225114   ⟸   XM_054369139
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054225117   ⟸   XM_054369142
- Peptide Label: isoform X4
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HBB8-F1-model_v2 AlphaFold Q9HBB8 1-845 view protein structure

Promoters
RGD ID:6789165
Promoter ID:HG_KWN:11844
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000326366,   NM_001171968,   NM_031264,   UC001LQL.1,   UC001LQM.2,   UC009YCC.1,   UC009YCE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611615,566 - 616,066 (-)MPROMDB
RGD ID:6789175
Promoter ID:HG_KWN:11845
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:ENST00000358353,   UC001LQN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611616,001 - 616,501 (-)MPROMDB
RGD ID:7219185
Promoter ID:EPDNEW_H15337
Type:initiation region
Name:CDHR5_1
Description:cadherin related family member 5
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
GRCh3811624,942 - 625,002EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7521 AgrOrtholog
COSMIC CDHR5 COSMIC
Ensembl Genes ENSG00000099834 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000273572 UniProtKB/TrEMBL
Ensembl Transcript ENST00000349570 ENTREZGENE
  ENST00000349570.11 UniProtKB/Swiss-Prot
  ENST00000358353 ENTREZGENE
  ENST00000358353.8 UniProtKB/Swiss-Prot
  ENST00000397542 ENTREZGENE
  ENST00000397542.7 UniProtKB/Swiss-Prot
  ENST00000526077.5 UniProtKB/TrEMBL
  ENST00000531088.5 UniProtKB/TrEMBL
  ENST00000531177.5 UniProtKB/TrEMBL
  ENST00000534311.1 UniProtKB/TrEMBL
  ENST00000617105.3 UniProtKB/TrEMBL
  ENST00000619215.2 UniProtKB/TrEMBL
  ENST00000631535.1 UniProtKB/TrEMBL
  ENST00000631565.1 UniProtKB/TrEMBL
  ENST00000632059.1 UniProtKB/TrEMBL
  ENST00000633633.1 UniProtKB/TrEMBL
  ENST00000634167.1 UniProtKB/TrEMBL
  ENST00000674088.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000099834 GTEx
  ENSG00000273572 GTEx
HGNC ID HGNC:7521 ENTREZGENE
Human Proteome Map CDHR5 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot
  Cadherin-like UniProtKB/Swiss-Prot
  Cadherin-like_dom UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protocadherin/Cadherin-CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:53841 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 53841 ENTREZGENE
OMIM 606839 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN-RELATED FAMILY MEMBER 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165543311 PharmGKB
PRINTS CADHERIN 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 Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0G2JMW3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JP44_HUMAN UniProtKB/TrEMBL
  B4DV98_HUMAN UniProtKB/TrEMBL
  C9J7X1 ENTREZGENE
  CDHR5_HUMAN UniProtKB/Swiss-Prot
  E9PKR2_HUMAN UniProtKB/TrEMBL
  E9PLX6_HUMAN UniProtKB/TrEMBL
  E9PMY2_HUMAN UniProtKB/TrEMBL
  E9PPW2_HUMAN UniProtKB/TrEMBL
  Q58EZ6 ENTREZGENE, UniProtKB/TrEMBL
  Q9H746 ENTREZGENE
  Q9HAU3 ENTREZGENE
  Q9HBB5 ENTREZGENE
  Q9HBB6 ENTREZGENE
  Q9HBB7 ENTREZGENE
  Q9HBB8 ENTREZGENE
  Q9NX86 ENTREZGENE
  Q9NXI9 ENTREZGENE
UniProt Secondary C9J7X1 UniProtKB/Swiss-Prot
  Q9H746 UniProtKB/Swiss-Prot
  Q9HAU3 UniProtKB/Swiss-Prot
  Q9HBB5 UniProtKB/Swiss-Prot
  Q9HBB6 UniProtKB/Swiss-Prot
  Q9HBB7 UniProtKB/Swiss-Prot
  Q9NX86 UniProtKB/Swiss-Prot
  Q9NXI9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 CDHR5  cadherin related family member 5  CDHR5  cadherin-related family member 5  Symbol and/or name change 5135510 APPROVED
2011-07-27 CDHR5  cadherin-related family member 5  MUPCDH  mucin-like protocadherin  Symbol and/or name change 5135510 APPROVED