CACHD1 (cache domain containing 1) - Rat Genome Database

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Gene: CACHD1 (cache domain containing 1) Homo sapiens
Analyze
Symbol: CACHD1
Name: cache domain containing 1
RGD ID: 1605969
HGNC Page HGNC:29314
Description: Predicted to enable voltage-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: cache domain-containing protein 1; KIAA1573; RP4-655E10.1; von Willebrand factor type A and cache domain containing 1; VWFA and cache domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,470,129 - 64,693,053 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,470,129 - 64,693,058 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,935,812 - 65,158,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,709,064 - 64,931,329 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,227,656 - 63,449,867 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef163,045,642 - 63,268,232 (+)NCBIHuRef
CHM1_1165,052,974 - 65,275,155 (+)NCBICHM1_1
T2T-CHM13v2.0164,347,926 - 64,571,142 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease 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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10997877   PMID:12421765   PMID:12477932   PMID:14702039   PMID:20379614   PMID:21873635   PMID:22268729   PMID:25332235   PMID:25515538   PMID:26638075   PMID:26972000   PMID:27880917  
PMID:28514442   PMID:29507755   PMID:30181139   PMID:30194290   PMID:30983497   PMID:31073040   PMID:31871319   PMID:33961781   PMID:34079125   PMID:34597346   PMID:35271311   PMID:35384245  
PMID:35696571   PMID:35914814   PMID:36215168   PMID:38158856  


Genomics

Comparative Map Data
CACHD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,470,129 - 64,693,053 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,470,129 - 64,693,058 (+)EnsemblGRCh38hg38GRCh38
GRCh37164,935,812 - 65,158,736 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,709,064 - 64,931,329 (+)NCBINCBI36Build 36hg18NCBI36
Celera163,227,656 - 63,449,867 (+)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef163,045,642 - 63,268,232 (+)NCBIHuRef
CHM1_1165,052,974 - 65,275,155 (+)NCBICHM1_1
T2T-CHM13v2.0164,347,926 - 64,571,142 (+)NCBIT2T-CHM13v2.0
Cachd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394100,633,870 - 100,861,741 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4100,633,872 - 100,886,417 (+)EnsemblGRCm39 Ensembl
GRCm384100,776,679 - 101,003,749 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4100,776,675 - 101,029,220 (+)EnsemblGRCm38mm10GRCm38
MGSCv374100,449,284 - 100,676,354 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364100,274,611 - 100,501,681 (+)NCBIMGSCv36mm8
Celera499,130,229 - 99,356,059 (+)NCBICelera
Cytogenetic Map4C6NCBI
cM Map445.76NCBI
Cachd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85120,527,224 - 120,752,685 (+)NCBIGRCr8
mRatBN7.25115,411,833 - 115,637,312 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5115,411,071 - 115,657,505 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5117,971,193 - 118,196,451 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05119,696,540 - 119,921,816 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05119,747,813 - 119,973,085 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05119,596,726 - 119,832,326 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5119,727,839 - 119,831,634 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05123,487,662 - 123,714,719 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45121,431,272 - 121,659,471 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15121,436,497 - 121,685,525 (+)NCBI
Celera5113,955,541 - 114,180,443 (+)NCBICelera
Cytogenetic Map5q33NCBI
Cachd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542325,675,275 - 25,842,333 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542325,675,396 - 25,818,924 (-)NCBIChiLan1.0ChiLan1.0
CACHD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21162,165,312 - 162,388,480 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11161,316,156 - 161,538,805 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,720,955 - 63,944,557 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1165,609,836 - 65,834,142 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl165,609,838 - 65,834,138 (+)Ensemblpanpan1.1panPan2
CACHD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1545,554,740 - 45,676,324 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl545,556,477 - 45,676,655 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha545,612,175 - 45,813,740 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0545,730,653 - 45,932,295 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl545,731,917 - 45,933,015 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1545,695,151 - 45,895,690 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0545,641,894 - 45,842,155 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0545,897,027 - 46,099,100 (-)NCBIUU_Cfam_GSD_1.0
Cachd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505877,637,552 - 77,841,263 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366921,952,886 - 2,156,688 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366921,952,892 - 2,156,680 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CACHD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6147,775,073 - 148,305,330 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16147,774,934 - 148,010,916 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26136,115,440 - 136,181,894 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CACHD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12068,389,853 - 68,615,603 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2068,387,320 - 68,614,512 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603348,910,968 - 49,136,487 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cachd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474229,820,592 - 29,993,927 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474229,819,338 - 29,994,114 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CACHD1
57 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1		 pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 copy number gain See cases [RCV000051824] Chr1:61922650..66445757 [GRCh38]
Chr1:62388322..66911440 [GRCh37]
Chr1:62160910..66684028 [NCBI36]
Chr1:1p31.3		 pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1		 pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1 copy number loss See cases [RCV000133710] Chr1:59760856..71578052 [GRCh38]
Chr1:60226528..72043735 [GRCh37]
Chr1:59999116..71816323 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 copy number loss See cases [RCV000134142] Chr1:58819605..69107108 [GRCh38]
Chr1:59285277..69572791 [GRCh37]
Chr1:59057865..69345379 [NCBI36]
Chr1:1p32.1-31.2		 pathogenic
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3		 pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3		 likely pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:64072618-75518432)x3 copy number gain See cases [RCV000142452] Chr1:64072618..75518432 [GRCh38]
Chr1:64538290..75984117 [GRCh37]
Chr1:64310878..75756705 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.3(chr1:61785602-67430956)x3 copy number gain See cases [RCV000446769] Chr1:61785602..67430956 [GRCh37]
Chr1:1p31.3		 pathogenic
GRCh37/hg19 1p31.3(chr1:64754434-64996736)x3 copy number gain See cases [RCV000448623] Chr1:64754434..64996736 [GRCh37]
Chr1:1p31.3		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020925.4(CACHD1):c.293G>A (p.Arg98His) single nucleotide variant Inborn genetic diseases [RCV002524943]|not provided [RCV000509162] Chr1:64582187 [GRCh38]
Chr1:65047870 [GRCh37]
Chr1:1p31.3		 uncertain significance|not provided
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020925.4(CACHD1):c.461G>A (p.Arg154Gln) single nucleotide variant Inborn genetic diseases [RCV003297783] Chr1:64602856 [GRCh38]
Chr1:65068539 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.344C>T (p.Thr115Met) single nucleotide variant Inborn genetic diseases [RCV003258261] Chr1:64582238 [GRCh38]
Chr1:65047921 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p31.3(chr1:64733906-65027769)x3 copy number gain not provided [RCV000684580] Chr1:64733906..65027769 [GRCh37]
Chr1:1p31.3		 likely benign
GRCh37/hg19 1p31.3(chr1:64848307-67436595)x1 copy number loss not provided [RCV000684581] Chr1:64848307..67436595 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3 copy number gain not provided [RCV000684577] Chr1:62434799..71656180 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3 copy number gain not provided [RCV000684578] Chr1:62468555..65584629 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1 copy number loss not provided [RCV000684579] Chr1:62830524..65396403 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3244+3A>G single nucleotide variant not provided [RCV000709938] Chr1:64678313 [GRCh38]
Chr1:65143996 [GRCh37]
Chr1:1p31.3		 not provided
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_020925.4(CACHD1):c.3571A>G (p.Thr1191Ala) single nucleotide variant Inborn genetic diseases [RCV003267242] Chr1:64682091 [GRCh38]
Chr1:65147774 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3508G>A (p.Ala1170Thr) single nucleotide variant Inborn genetic diseases [RCV003246552] Chr1:64682028 [GRCh38]
Chr1:65147711 [GRCh37]
Chr1:1p31.3		 uncertain significance
Single allele deletion Intellectual disability, severe [RCV000824954] Chr1:59922631..72058653 [GRCh37]
Chr1:1p32.1-31.1		 pathogenic
NM_020925.4(CACHD1):c.388A>G (p.Thr130Ala) single nucleotide variant Inborn genetic diseases [RCV003273362] Chr1:64582282 [GRCh38]
Chr1:65047965 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3704C>T (p.Pro1235Leu) single nucleotide variant Inborn genetic diseases [RCV003292501] Chr1:64691440 [GRCh38]
Chr1:65157123 [GRCh37]
Chr1:1p31.3		 uncertain significance
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Chromosome 1p32-p31 deletion syndrome [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3		 pathogenic
NM_020925.4(CACHD1):c.1387G>A (p.Asp463Asn) single nucleotide variant not provided [RCV001249390] Chr1:64648031 [GRCh38]
Chr1:65113714 [GRCh37]
Chr1:1p31.3		 not provided
GRCh37/hg19 1p31.3-31.2(chr1:65125111-69186543) copy number gain not specified [RCV002053380] Chr1:65125111..69186543 [GRCh37]
Chr1:1p31.3-31.2		 uncertain significance
NC_000001.10:g.(?_61548464)_(67861772_?)del deletion not provided [RCV003116397] Chr1:61548464..67861772 [GRCh37]
Chr1:1p31.3		 pathogenic
NM_020925.4(CACHD1):c.2197A>G (p.Ile733Val) single nucleotide variant Inborn genetic diseases [RCV003254177] Chr1:64664600 [GRCh38]
Chr1:65130283 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1687A>G (p.Ile563Val) single nucleotide variant Inborn genetic diseases [RCV003303950] Chr1:64654708 [GRCh38]
Chr1:65120391 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2490A>T (p.Gln830His) single nucleotide variant Inborn genetic diseases [RCV003262118] Chr1:64671666 [GRCh38]
Chr1:65137349 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2726C>T (p.Ala909Val) single nucleotide variant Inborn genetic diseases [RCV002997873] Chr1:64673463 [GRCh38]
Chr1:65139146 [GRCh37]
Chr1:1p31.3		 likely benign
NM_020925.4(CACHD1):c.3338C>T (p.Ala1113Val) single nucleotide variant Inborn genetic diseases [RCV002749582] Chr1:64679688 [GRCh38]
Chr1:65145371 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3530A>G (p.His1177Arg) single nucleotide variant Inborn genetic diseases [RCV003012799] Chr1:64682050 [GRCh38]
Chr1:65147733 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3040G>C (p.Asp1014His) single nucleotide variant Inborn genetic diseases [RCV002683100] Chr1:64676959 [GRCh38]
Chr1:65142642 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1036G>T (p.Ala346Ser) single nucleotide variant Inborn genetic diseases [RCV002841774] Chr1:64641849 [GRCh38]
Chr1:65107532 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2459T>C (p.Val820Ala) single nucleotide variant Inborn genetic diseases [RCV002683500] Chr1:64671635 [GRCh38]
Chr1:65137318 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1067A>G (p.Glu356Gly) single nucleotide variant Inborn genetic diseases [RCV002978939] Chr1:64641880 [GRCh38]
Chr1:65107563 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.184G>T (p.Val62Phe) single nucleotide variant Inborn genetic diseases [RCV002704901] Chr1:64470928 [GRCh38]
Chr1:64936611 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3520C>G (p.Arg1174Gly) single nucleotide variant Inborn genetic diseases [RCV002910597] Chr1:64682040 [GRCh38]
Chr1:65147723 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3655G>T (p.Gly1219Trp) single nucleotide variant Inborn genetic diseases [RCV002694511] Chr1:64691391 [GRCh38]
Chr1:65157074 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1649G>A (p.Arg550Gln) single nucleotide variant Inborn genetic diseases [RCV002951674] Chr1:64653866 [GRCh38]
Chr1:65119549 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.217G>A (p.Val73Ile) single nucleotide variant Inborn genetic diseases [RCV002822749] Chr1:64550612 [GRCh38]
Chr1:65016295 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2527G>A (p.Asp843Asn) single nucleotide variant Inborn genetic diseases [RCV002924842] Chr1:64673174 [GRCh38]
Chr1:65138857 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3129G>A (p.Met1043Ile) single nucleotide variant Inborn genetic diseases [RCV002888081] Chr1:64678195 [GRCh38]
Chr1:65143878 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1793C>T (p.Thr598Ile) single nucleotide variant Inborn genetic diseases [RCV002712678] Chr1:64658715 [GRCh38]
Chr1:65124398 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2882G>C (p.Cys961Ser) single nucleotide variant Inborn genetic diseases [RCV002919615] Chr1:64675555 [GRCh38]
Chr1:65141238 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1354G>A (p.Val452Ile) single nucleotide variant Inborn genetic diseases [RCV002767164] Chr1:64647998 [GRCh38]
Chr1:65113681 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2506A>G (p.Ile836Val) single nucleotide variant Inborn genetic diseases [RCV003003925] Chr1:64671682 [GRCh38]
Chr1:65137365 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2317A>G (p.Thr773Ala) single nucleotide variant Inborn genetic diseases [RCV002892771] Chr1:64666097 [GRCh38]
Chr1:65131780 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1337G>A (p.Arg446Gln) single nucleotide variant Inborn genetic diseases [RCV002742620] Chr1:64647981 [GRCh38]
Chr1:65113664 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2215G>A (p.Val739Ile) single nucleotide variant Inborn genetic diseases [RCV002986783] Chr1:64664618 [GRCh38]
Chr1:65130301 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2035G>C (p.Glu679Gln) single nucleotide variant Inborn genetic diseases [RCV002813462] Chr1:64663778 [GRCh38]
Chr1:65129461 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3707A>G (p.Gln1236Arg) single nucleotide variant Inborn genetic diseases [RCV002652195] Chr1:64691443 [GRCh38]
Chr1:65157126 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.374T>C (p.Ile125Thr) single nucleotide variant Inborn genetic diseases [RCV002668954] Chr1:64582268 [GRCh38]
Chr1:65047951 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2675G>T (p.Ser892Ile) single nucleotide variant Inborn genetic diseases [RCV002921771] Chr1:64673412 [GRCh38]
Chr1:65139095 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2680A>T (p.Ser894Cys) single nucleotide variant Inborn genetic diseases [RCV002921342] Chr1:64673417 [GRCh38]
Chr1:65139100 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3746G>A (p.Arg1249Gln) single nucleotide variant Inborn genetic diseases [RCV002989103] Chr1:64691482 [GRCh38]
Chr1:65157165 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.469A>G (p.Thr157Ala) single nucleotide variant Inborn genetic diseases [RCV002878040] Chr1:64602864 [GRCh38]
Chr1:65068547 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2305T>A (p.Leu769Met) single nucleotide variant Inborn genetic diseases [RCV002813004] Chr1:64666085 [GRCh38]
Chr1:65131768 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3316T>G (p.Cys1106Gly) single nucleotide variant Inborn genetic diseases [RCV002723431] Chr1:64679666 [GRCh38]
Chr1:65145349 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3547C>T (p.Arg1183Cys) single nucleotide variant Inborn genetic diseases [RCV002725174] Chr1:64682067 [GRCh38]
Chr1:65147750 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.994A>C (p.Lys332Gln) single nucleotide variant Inborn genetic diseases [RCV003193838] Chr1:64634248 [GRCh38]
Chr1:65099931 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2989G>A (p.Glu997Lys) single nucleotide variant Inborn genetic diseases [RCV003213030] Chr1:64676908 [GRCh38]
Chr1:65142591 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3279C>G (p.Ser1093Arg) single nucleotide variant Inborn genetic diseases [RCV003194887] Chr1:64679629 [GRCh38]
Chr1:65145312 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2641C>A (p.His881Asn) single nucleotide variant Inborn genetic diseases [RCV003183374] Chr1:64673378 [GRCh38]
Chr1:65139061 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.2563G>C (p.Asp855His) single nucleotide variant Inborn genetic diseases [RCV003219307] Chr1:64673210 [GRCh38]
Chr1:65138893 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.3374G>A (p.Ser1125Asn) single nucleotide variant Inborn genetic diseases [RCV003341115] Chr1:64679724 [GRCh38]
Chr1:65145407 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1819A>G (p.Ile607Val) single nucleotide variant Inborn genetic diseases [RCV003344868] Chr1:64658741 [GRCh38]
Chr1:65124424 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.712T>G (p.Ser238Ala) single nucleotide variant Inborn genetic diseases [RCV003374306] Chr1:64632666 [GRCh38]
Chr1:65098349 [GRCh37]
Chr1:1p31.3		 uncertain significance
NM_020925.4(CACHD1):c.1722C>T (p.His574=) single nucleotide variant not provided [RCV003406547] Chr1:64654743 [GRCh38]
Chr1:65120426 [GRCh37]
Chr1:1p31.3		 likely benign
NM_020925.4(CACHD1):c.1176A>G (p.Lys392=) single nucleotide variant not provided [RCV003406546] Chr1:64647820 [GRCh38]
Chr1:65113503 [GRCh37]
Chr1:1p31.3		 likely benign
GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1 copy number loss not specified [RCV003986418] Chr1:60641326..65216639 [GRCh37]
Chr1:1p32.1-31.3		 pathogenic
GRCh37/hg19 1p31.3(chr1:63885043-65190254)x1 copy number loss not specified [RCV003986739] Chr1:63885043..65190254 [GRCh37]
Chr1:1p31.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1763
Count of miRNA genes:510
Interacting mature miRNAs:579
Transcripts:ENST00000290039, ENST00000371073, ENST00000470527, ENST00000486580, ENST00000495994
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-74941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,129,607 - 65,129,732UniSTSGRCh37
Build 36164,902,195 - 64,902,320RGDNCBI36
Celera163,420,763 - 63,420,888RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,239,109 - 63,239,234UniSTS
TNG Radiation Hybrid Map136718.0UniSTS
GeneMap99-GB4 RH Map1174.01UniSTS
RH91887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,125,345 - 65,125,532UniSTSGRCh37
Build 36164,897,933 - 64,898,120RGDNCBI36
Celera163,416,501 - 63,416,688RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,234,847 - 63,235,034UniSTS
GeneMap99-GB4 RH Map1174.38UniSTS
RH102643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,158,373 - 65,158,546UniSTSGRCh37
Build 36164,930,961 - 64,931,134RGDNCBI36
Celera163,449,499 - 63,449,672RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,267,864 - 63,268,037UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
SHGC-82019  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,120,139 - 65,120,443UniSTSGRCh37
Build 36164,892,727 - 64,893,031RGDNCBI36
Celera163,411,295 - 63,411,599RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,229,641 - 63,229,945UniSTS
TNG Radiation Hybrid Map136764.0UniSTS
SHGC-83932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,960,714 - 64,960,993UniSTSGRCh37
Build 36164,733,302 - 64,733,581RGDNCBI36
Celera163,251,891 - 63,252,170RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,070,226 - 63,070,505UniSTS
TNG Radiation Hybrid Map136649.0UniSTS
RH122934  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,980,399 - 64,980,670UniSTSGRCh37
Build 36164,752,987 - 64,753,258RGDNCBI36
Celera163,271,566 - 63,271,837RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,089,893 - 63,090,164UniSTS
TNG Radiation Hybrid Map136665.0UniSTS
G58143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,123,650 - 65,123,926UniSTSGRCh37
Build 36164,896,238 - 64,896,514RGDNCBI36
Celera163,414,806 - 63,415,082RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,233,152 - 63,233,428UniSTS
TNG Radiation Hybrid Map136754.0UniSTS
SHGC-107550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,125,499 - 65,125,775UniSTSGRCh37
Build 36164,898,087 - 64,898,363RGDNCBI36
Celera163,416,655 - 63,416,931RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,235,001 - 63,235,277UniSTS
TNG Radiation Hybrid Map136764.0UniSTS
D1S3724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,141,605 - 65,141,772UniSTSGRCh37
Build 36164,914,193 - 64,914,360RGDNCBI36
Celera163,432,762 - 63,432,908RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,251,107 - 63,251,253UniSTS
deCODE Assembly Map191.47UniSTS
SHGC-74939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,141,941 - 65,142,112UniSTSGRCh37
Build 36164,914,529 - 64,914,700RGDNCBI36
Celera163,433,077 - 63,433,248RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,251,422 - 63,251,593UniSTS
TNG Radiation Hybrid Map136732.0UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
SHGC-106872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,068,235 - 65,068,569UniSTSGRCh37
Build 36164,840,823 - 64,841,157RGDNCBI36
Celera163,359,405 - 63,359,739RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,177,665 - 63,177,999UniSTS
TNG Radiation Hybrid Map136771.0UniSTS
SHGC-156086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,137,770 - 65,138,113UniSTSGRCh37
Build 36164,910,358 - 64,910,701RGDNCBI36
Celera163,428,926 - 63,429,269RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,247,271 - 63,247,614UniSTS
TNG Radiation Hybrid Map136729.0UniSTS
G16067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,007,837 - 65,007,937UniSTSGRCh37
Build 36164,780,425 - 64,780,525RGDNCBI36
Celera163,299,011 - 63,299,111RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,117,295 - 63,117,395UniSTS
SHGC-74907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,002,799 - 65,002,917UniSTSGRCh37
Build 36164,775,387 - 64,775,505RGDNCBI36
Celera163,293,974 - 63,294,092RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,112,260 - 63,112,378UniSTS
TNG Radiation Hybrid Map136675.0UniSTS
GeneMap99-GB4 RH Map1165.66UniSTS
D1S3164  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,952,439 - 64,952,670UniSTSGRCh37
Build 36164,725,027 - 64,725,258RGDNCBI36
Celera163,243,617 - 63,243,848RGD
Cytogenetic Map1p31.3UniSTS
HuRef163,061,598 - 63,061,829UniSTS
Stanford-G3 RH Map13296.0UniSTS
G32395  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31.3UniSTS
HuRef163,112,120 - 63,112,273UniSTS
A009B41  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p31.3UniSTS
HuRef163,112,120 - 63,112,273UniSTS
GeneMap99-GB4 RH Map1173.27UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 492 425 968 54 94 11 2192 348 1229 68 899 959 46 1092 917 1
Low 1919 1882 708 523 620 407 2160 1830 2472 331 544 625 125 112 1868 1 1
Below cutoff 20 668 44 43 848 44 3 14 17 19 8 19 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001293274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX163220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000290039   ⟹   ENSP00000290039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,470,793 - 64,693,058 (+)Ensembl
RefSeq Acc Id: ENST00000470527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,563,677 - 64,693,058 (+)Ensembl
RefSeq Acc Id: ENST00000486580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,664,200 - 64,666,140 (+)Ensembl
RefSeq Acc Id: ENST00000495994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,505,915 - 64,693,053 (+)Ensembl
RefSeq Acc Id: ENST00000650260   ⟹   ENSP00000497279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,505,901 - 64,693,040 (+)Ensembl
RefSeq Acc Id: ENST00000651257   ⟹   ENSP00000498498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,470,129 - 64,693,053 (+)Ensembl
RefSeq Acc Id: NM_001293274   ⟹   NP_001280203
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,505,901 - 64,693,053 (+)NCBI
CHM1_1165,088,022 - 65,275,155 (+)NCBI
T2T-CHM13v2.0164,384,006 - 64,571,142 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020925   ⟹   NP_065976
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,470,129 - 64,693,053 (+)NCBI
GRCh37164,936,476 - 65,158,741 (+)RGD
Build 36164,709,064 - 64,931,329 (+)NCBI Archive
Celera163,227,656 - 63,449,867 (+)RGD
HuRef163,045,642 - 63,268,232 (+)ENTREZGENE
CHM1_1165,052,974 - 65,275,155 (+)NCBI
T2T-CHM13v2.0164,347,926 - 64,571,142 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541862   ⟹   XP_011540164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,505,901 - 64,693,053 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426234   ⟹   XP_047282190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,470,129 - 64,693,053 (+)NCBI
RefSeq Acc Id: XM_047426235   ⟹   XP_047282191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,472,176 - 64,693,053 (+)NCBI
RefSeq Acc Id: XM_054337904   ⟹   XP_054193879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,358,059 - 64,571,142 (+)NCBI
RefSeq Acc Id: XM_054337905   ⟹   XP_054193880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,347,926 - 64,571,142 (+)NCBI
RefSeq Acc Id: XM_054337906   ⟹   XP_054193881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,350,081 - 64,571,142 (+)NCBI
RefSeq Acc Id: XM_054337907   ⟹   XP_054193882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,384,006 - 64,571,142 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_065976   ⟸   NM_020925
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9H9W3 (UniProtKB/Swiss-Prot),   Q9H7W4 (UniProtKB/Swiss-Prot),   Q7Z3P2 (UniProtKB/Swiss-Prot),   Q658T4 (UniProtKB/Swiss-Prot),   Q5VU97 (UniProtKB/Swiss-Prot),   Q49AE9 (UniProtKB/Swiss-Prot),   Q9HCJ9 (UniProtKB/Swiss-Prot),   A0A0A0MQY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280203   ⟸   NM_001293274
- Peptide Label: isoform 2
- UniProtKB: A0A3B3ISH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540164   ⟸   XM_011541862
- Peptide Label: isoform X3
- UniProtKB: A0A3B3ISH2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000497279   ⟸   ENST00000650260
RefSeq Acc Id: ENSP00000498498   ⟸   ENST00000651257
RefSeq Acc Id: ENSP00000290039   ⟸   ENST00000290039
RefSeq Acc Id: XP_047282190   ⟸   XM_047426234
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047282191   ⟸   XM_047426235
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054193880   ⟸   XM_054337905
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193881   ⟸   XM_054337906
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054193879   ⟸   XM_054337904
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054193882   ⟸   XM_054337907
- Peptide Label: isoform X3
Protein Domains
Cache   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VU97-F1-model_v2 AlphaFold Q5VU97 1-1274 view protein structure

Promoters
RGD ID:6855764
Promoter ID:EPDNEW_H1047
Type:initiation region
Name:CACHD1_1
Description:cache domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1048  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,470,129 - 64,470,189EPDNEW
RGD ID:6855766
Promoter ID:EPDNEW_H1048
Type:initiation region
Name:CACHD1_2
Description:cache domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1047  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,505,877 - 64,505,937EPDNEW
RGD ID:6784833
Promoter ID:HG_KWN:3080
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:ENST00000371073
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,708,214 - 64,708,714 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29314 AgrOrtholog
COSMIC CACHD1 COSMIC
Ensembl Genes ENSG00000158966 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000290039.6 UniProtKB/TrEMBL
  ENST00000470527 ENTREZGENE
  ENST00000495994 ENTREZGENE
  ENST00000650260 ENTREZGENE
  ENST00000650260.1 UniProtKB/TrEMBL
  ENST00000651257 ENTREZGENE
  ENST00000651257.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PAS domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000158966 GTEx
HGNC ID HGNC:29314 ENTREZGENE
Human Proteome Map CACHD1 Human Proteome Map
InterPro Sensor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWF_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  vWFA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57685 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57685 ENTREZGENE
OMIM 620144 OMIM
PANTHER VOLTAGE-DEPENDENT CALCIUM CHANNEL SUBUNIT ALPHA-2/DELTA-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VWFA AND CACHE DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142672211 PharmGKB
PROSITE VWFA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103190 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MQY7 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3ISH2 ENTREZGENE, UniProtKB/TrEMBL
  CAHD1_HUMAN UniProtKB/Swiss-Prot
  Q49AE9 ENTREZGENE
  Q5VU97 ENTREZGENE
  Q658T4 ENTREZGENE
  Q7Z3P2 ENTREZGENE
  Q9H7W4 ENTREZGENE
  Q9H9W3 ENTREZGENE
  Q9HCJ9 ENTREZGENE
UniProt Secondary Q49AE9 UniProtKB/Swiss-Prot
  Q658T4 UniProtKB/Swiss-Prot
  Q7Z3P2 UniProtKB/Swiss-Prot
  Q9H7W4 UniProtKB/Swiss-Prot
  Q9H9W3 UniProtKB/Swiss-Prot
  Q9HCJ9 UniProtKB/Swiss-Prot