KLHDC7A (kelch domain containing 7A) - Rat Genome Database

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Gene: KLHDC7A (kelch domain containing 7A) Homo sapiens
Analyze
Symbol: KLHDC7A
Name: kelch domain containing 7A
RGD ID: 1606164
HGNC Page HGNC:26791
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ38753; kelch domain-containing protein 7A; RP11-422P22.2
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
GRCh38118,480,930 - 18,485,974 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl118,480,930 - 18,485,974 (+)EnsemblGRCh38hg38GRCh38
GRCh37118,807,424 - 18,812,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36118,680,011 - 18,685,080 (+)NCBINCBI36Build 36hg18NCBI36
Celera117,137,264 - 17,142,332 (+)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef117,053,729 - 17,058,798 (+)NCBIHuRef
CHM1_1118,916,583 - 18,921,652 (+)NCBICHM1_1
T2T-CHM13v2.0118,301,029 - 18,306,073 (+)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

Cellular Component
membrane  (IEA)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:20379614   PMID:21441570   PMID:27607899  


Genomics

Comparative Map Data
KLHDC7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38118,480,930 - 18,485,974 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl118,480,930 - 18,485,974 (+)EnsemblGRCh38hg38GRCh38
GRCh37118,807,424 - 18,812,468 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36118,680,011 - 18,685,080 (+)NCBINCBI36Build 36hg18NCBI36
Celera117,137,264 - 17,142,332 (+)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef117,053,729 - 17,058,798 (+)NCBIHuRef
CHM1_1118,916,583 - 18,921,652 (+)NCBICHM1_1
T2T-CHM13v2.0118,301,029 - 18,306,073 (+)NCBIT2T-CHM13v2.0
Klhdc7a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394139,689,484 - 139,695,337 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4139,687,531 - 139,695,337 (-)EnsemblGRCm39 Ensembl
GRCm384139,962,173 - 139,968,026 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4139,960,220 - 139,968,026 (-)EnsemblGRCm38mm10GRCm38
MGSCv374139,518,088 - 139,523,941 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364139,237,435 - 139,239,669 (-)NCBIMGSCv36mm8
Celera4141,758,474 - 141,764,327 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map471.03NCBI
Klhdc7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85157,501,740 - 157,507,843 (-)NCBIGRCr8
mRatBN7.25152,218,604 - 152,224,707 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5152,221,033 - 152,224,551 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5154,916,499 - 154,922,607 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05156,690,875 - 156,696,983 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05156,672,692 - 156,678,810 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05158,433,394 - 158,440,185 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5158,436,757 - 158,439,078 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05162,162,556 - 162,167,877 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45158,751,700 - 158,754,021 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15158,761,729 - 158,763,879 (-)NCBI
Celera5150,587,101 - 150,595,116 (-)NCBICelera
Cytogenetic Map5q36NCBI
Klhdc7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955527689,631 - 696,250 (-)NCBIChiLan1.0ChiLan1.0
KLHDC7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21208,628,356 - 208,634,279 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11207,745,601 - 207,751,521 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0117,439,890 - 17,444,993 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1118,490,918 - 18,496,010 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl118,490,964 - 18,493,297 (+)Ensemblpanpan1.1panPan2
KLHDC7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1280,041,045 - 80,048,296 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl280,044,570 - 80,046,918 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha276,556,941 - 76,564,357 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0280,666,393 - 80,673,765 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl280,669,919 - 80,672,267 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1277,424,149 - 77,428,873 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0278,439,179 - 78,443,908 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0279,505,769 - 79,513,224 (-)NCBIUU_Cfam_GSD_1.0
Klhdc7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505839,113,818 - 39,116,189 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364744,938,688 - 4,945,431 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364744,938,609 - 4,940,971 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KLHDC7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl677,023,865 - 77,026,255 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1677,022,168 - 77,030,776 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2671,268,081 - 71,273,242 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KLHDC7A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120114,075,337 - 114,081,247 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20114,077,996 - 114,080,329 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660332,072,246 - 2,077,643 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Klhdc7a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247643,732,988 - 3,735,267 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247643,732,685 - 3,737,878 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KLHDC7A
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
NM_152375.2(KLHDC7A):c.435C>T (p.Thr145=) single nucleotide variant Malignant melanoma [RCV000064394] Chr1:18481416 [GRCh38]
Chr1:18807910 [GRCh37]
Chr1:18680497 [NCBI36]
Chr1:1p36.13		 not provided
NM_152375.2(KLHDC7A):c.796G>A (p.Ala266Thr) single nucleotide variant Malignant melanoma [RCV000064395] Chr1:18481777 [GRCh38]
Chr1:18808271 [GRCh37]
Chr1:18680858 [NCBI36]
Chr1:1p36.13		 not provided
NM_152375.2(KLHDC7A):c.1573C>T (p.Pro525Ser) single nucleotide variant Malignant melanoma [RCV000064396] Chr1:18482554 [GRCh38]
Chr1:18809048 [GRCh37]
Chr1:18681635 [NCBI36]
Chr1:1p36.13		 not provided
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 copy number loss See cases [RCV000138070] Chr1:15681812..19662339 [GRCh38]
Chr1:16008307..19988832 [GRCh37]
Chr1:15880894..19861419 [NCBI36]
Chr1:1p36.21-36.13		 pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:17555508-24706269 complex variant complex Breast ductal adenocarcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11		 uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.21-36.13(chr1:13178371-19961858)x1 copy number loss See cases [RCV000447987] Chr1:13178371..19961858 [GRCh37]
Chr1:1p36.21-36.13		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_152375.3(KLHDC7A):c.1756G>A (p.Ala586Thr) single nucleotide variant Inborn genetic diseases [RCV003273614] Chr1:18482737 [GRCh38]
Chr1:18809231 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1988G>C (p.Gly663Ala) single nucleotide variant Inborn genetic diseases [RCV003272019] Chr1:18482969 [GRCh38]
Chr1:18809463 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:18533280-19051005)x3 copy number gain See cases [RCV000512410] Chr1:18533280..19051005 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:18804103-19144178)x3 copy number gain not provided [RCV000684556] Chr1:18804103..19144178 [GRCh37]
Chr1:1p36.13		 uncertain significance
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
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
NM_152375.3(KLHDC7A):c.1858A>G (p.Ser620Gly) single nucleotide variant Inborn genetic diseases [RCV003267086] Chr1:18482839 [GRCh38]
Chr1:18809333 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.754C>T (p.Gln252Ter) single nucleotide variant not provided [RCV000966731] Chr1:18481735 [GRCh38]
Chr1:18808229 [GRCh37]
Chr1:1p36.13		 benign
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 1p36.13(chr1:18807170-19143482)x3 copy number gain not provided [RCV000849814] Chr1:18807170..19143482 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:18263509-18945211)x4 copy number gain not provided [RCV000848257] Chr1:18263509..18945211 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13(chr1:18778080-19523646)x3 copy number gain not provided [RCV000848780] Chr1:18778080..19523646 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.379G>T (p.Gly127Cys) single nucleotide variant not provided [RCV000888895] Chr1:18481360 [GRCh38]
Chr1:18807854 [GRCh37]
Chr1:1p36.13		 benign
NM_152375.3(KLHDC7A):c.1544A>G (p.Gln515Arg) single nucleotide variant not provided [RCV000888896] Chr1:18482525 [GRCh38]
Chr1:18809019 [GRCh37]
Chr1:1p36.13		 benign
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1 copy number loss not provided [RCV001259567] Chr1:17284906..21778495 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 copy number loss not provided [RCV001259568] Chr1:16041431..21295864 [GRCh37]
Chr1:1p36.21-36.12		 pathogenic
GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1 copy number loss not provided [RCV001829114] Chr1:16773001..20221073 [GRCh37]
Chr1:1p36.13		 pathogenic
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13		 pathogenic
NM_152375.3(KLHDC7A):c.1104G>T (p.Gln368His) single nucleotide variant Inborn genetic diseases [RCV002902656] Chr1:18482085 [GRCh38]
Chr1:18808579 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.2135A>G (p.Tyr712Cys) single nucleotide variant Inborn genetic diseases [RCV002860559] Chr1:18483116 [GRCh38]
Chr1:18809610 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1710C>A (p.Ser570Arg) single nucleotide variant Inborn genetic diseases [RCV002779503] Chr1:18482691 [GRCh38]
Chr1:18809185 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1265C>T (p.Pro422Leu) single nucleotide variant Inborn genetic diseases [RCV002864663] Chr1:18482246 [GRCh38]
Chr1:18808740 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.185G>A (p.Gly62Asp) single nucleotide variant Inborn genetic diseases [RCV002865410] Chr1:18481166 [GRCh38]
Chr1:18807660 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.437G>A (p.Arg146Lys) single nucleotide variant Inborn genetic diseases [RCV002818656] Chr1:18481418 [GRCh38]
Chr1:18807912 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.239C>G (p.Pro80Arg) single nucleotide variant Inborn genetic diseases [RCV002752791] Chr1:18481220 [GRCh38]
Chr1:18807714 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.826C>G (p.Gln276Glu) single nucleotide variant Inborn genetic diseases [RCV002689952] Chr1:18481807 [GRCh38]
Chr1:18808301 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1955C>A (p.Ala652Glu) single nucleotide variant Inborn genetic diseases [RCV002990159] Chr1:18482936 [GRCh38]
Chr1:18809430 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.426C>A (p.Ser142Arg) single nucleotide variant Inborn genetic diseases [RCV002816998] Chr1:18481407 [GRCh38]
Chr1:18807901 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.2294T>C (p.Leu765Pro) single nucleotide variant Inborn genetic diseases [RCV002768288] Chr1:18483275 [GRCh38]
Chr1:18809769 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.251G>A (p.Arg84Lys) single nucleotide variant Inborn genetic diseases [RCV002984642] Chr1:18481232 [GRCh38]
Chr1:18807726 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1364A>G (p.Tyr455Cys) single nucleotide variant Inborn genetic diseases [RCV002763968] Chr1:18482345 [GRCh38]
Chr1:18808839 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1586T>G (p.Val529Gly) single nucleotide variant Inborn genetic diseases [RCV002983427] Chr1:18482567 [GRCh38]
Chr1:18809061 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.778T>C (p.Tyr260His) single nucleotide variant Inborn genetic diseases [RCV002802667] Chr1:18481759 [GRCh38]
Chr1:18808253 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1058C>T (p.Pro353Leu) single nucleotide variant Inborn genetic diseases [RCV002697711] Chr1:18482039 [GRCh38]
Chr1:18808533 [GRCh37]
Chr1:1p36.13		 likely benign
NM_152375.3(KLHDC7A):c.2246A>T (p.Glu749Val) single nucleotide variant Inborn genetic diseases [RCV002804183] Chr1:18483227 [GRCh38]
Chr1:18809721 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.245G>A (p.Arg82His) single nucleotide variant Inborn genetic diseases [RCV003010623] Chr1:18481226 [GRCh38]
Chr1:18807720 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1465C>T (p.Arg489Trp) single nucleotide variant Inborn genetic diseases [RCV002965824] Chr1:18482446 [GRCh38]
Chr1:18808940 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.748C>A (p.His250Asn) single nucleotide variant Inborn genetic diseases [RCV002668476] Chr1:18481729 [GRCh38]
Chr1:18808223 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.2245G>A (p.Glu749Lys) single nucleotide variant Inborn genetic diseases [RCV002809161] Chr1:18483226 [GRCh38]
Chr1:18809720 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.493C>T (p.Pro165Ser) single nucleotide variant Inborn genetic diseases [RCV002807641] Chr1:18481474 [GRCh38]
Chr1:18807968 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1327A>G (p.Lys443Glu) single nucleotide variant Inborn genetic diseases [RCV002959408] Chr1:18482308 [GRCh38]
Chr1:18808802 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1630G>T (p.Val544Leu) single nucleotide variant Inborn genetic diseases [RCV002807665] Chr1:18482611 [GRCh38]
Chr1:18809105 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.77C>T (p.Ala26Val) single nucleotide variant Inborn genetic diseases [RCV002679534] Chr1:18481058 [GRCh38]
Chr1:18807552 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.685A>G (p.Ile229Val) single nucleotide variant Inborn genetic diseases [RCV003172857] Chr1:18481666 [GRCh38]
Chr1:18808160 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.506C>T (p.Pro169Leu) single nucleotide variant Inborn genetic diseases [RCV003200812] Chr1:18481487 [GRCh38]
Chr1:18807981 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1472G>A (p.Arg491His) single nucleotide variant Inborn genetic diseases [RCV003285287] Chr1:18482453 [GRCh38]
Chr1:18808947 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.2008G>A (p.Ala670Thr) single nucleotide variant Inborn genetic diseases [RCV003350257] Chr1:18482989 [GRCh38]
Chr1:18809483 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.337A>G (p.Thr113Ala) single nucleotide variant Inborn genetic diseases [RCV003353657] Chr1:18481318 [GRCh38]
Chr1:18807812 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.824T>C (p.Ile275Thr) single nucleotide variant Inborn genetic diseases [RCV003374684] Chr1:18481805 [GRCh38]
Chr1:18808299 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_152375.3(KLHDC7A):c.1972T>G (p.Trp658Gly) single nucleotide variant Inborn genetic diseases [RCV003372018] Chr1:18482953 [GRCh38]
Chr1:18809447 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 copy number gain not provided [RCV003485339] Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12		 likely pathogenic
GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3 copy number gain not provided [RCV003484009] Chr1:18127009..20315260 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1 copy number loss not specified [RCV003986551] Chr1:16194137..20561434 [GRCh37]
Chr1:1p36.21-36.12		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1317
Count of miRNA genes:783
Interacting mature miRNAs:914
Transcripts:ENST00000400664
Prediction methods: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
RH93043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37118,812,070 - 18,812,193UniSTSGRCh37
Build 36118,684,657 - 18,684,780RGDNCBI36
Celera117,141,910 - 17,142,033RGD
Cytogenetic Map1p36.13UniSTS
HuRef117,058,375 - 17,058,498UniSTS
GeneMap99-GB4 RH Map172.75UniSTS


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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 19 35 18 18 117 1 245 34 39 4
Low 513 12 1041 573 25 417 253 15 355 143 471 1053 161 179 14
Below cutoff 1361 1340 430 23 616 21 2652 1197 2553 17 695 406 5 1 823 1663 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000400664   ⟹   ENSP00000383505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl118,480,930 - 18,485,974 (+)Ensembl
RefSeq Acc Id: NM_152375   ⟹   NP_689588
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38118,480,930 - 18,485,974 (+)NCBI
GRCh37118,807,424 - 18,812,540 (+)NCBI
Build 36118,680,011 - 18,685,080 (+)NCBI Archive
Celera117,137,264 - 17,142,332 (+)RGD
HuRef117,053,729 - 17,058,798 (+)RGD
CHM1_1118,916,583 - 18,921,652 (+)NCBI
T2T-CHM13v2.0118,301,029 - 18,306,073 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_689588 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI01499 (Get FASTA)   NCBI Sequence Viewer  
  AAI01501 (Get FASTA)   NCBI Sequence Viewer  
  AAI51206 (Get FASTA)   NCBI Sequence Viewer  
  BAC04695 (Get FASTA)   NCBI Sequence Viewer  
  EAW94851 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000383505
  ENSP00000383505.1
GenBank Protein Q5VTJ3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_689588   ⟸   NM_152375
- UniProtKB: Q8N8W6 (UniProtKB/Swiss-Prot),   Q5VTJ3 (UniProtKB/Swiss-Prot),   A7E2V3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000383505   ⟸   ENST00000400664

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VTJ3-F1-model_v2 AlphaFold Q5VTJ3 1-777 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26791 AgrOrtholog
COSMIC KLHDC7A COSMIC
Ensembl Genes ENSG00000179023 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000400664 ENTREZGENE
  ENST00000400664.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.80 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000179023 GTEx
HGNC ID HGNC:26791 ENTREZGENE
Human Proteome Map KLHDC7A Human Proteome Map
InterPro Kelch-typ_b-propeller UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:127707 UniProtKB/Swiss-Prot
NCBI Gene 127707 ENTREZGENE
PANTHER BTB_2 DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KELCH DOMAIN-CONTAINING PROTEIN 7A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Kelch_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671581 PharmGKB
SMART Kelch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4FU39_HUMAN UniProtKB/TrEMBL
  A7E2V3 ENTREZGENE, UniProtKB/TrEMBL
  KLD7A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N8W6 ENTREZGENE
UniProt Secondary Q8N8W6 UniProtKB/Swiss-Prot