KEL (Kell metallo-endopeptidase (Kell blood group)) - Rat Genome Database

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Gene: KEL (Kell metallo-endopeptidase (Kell blood group)) Homo sapiens
Analyze
Symbol: KEL
Name: Kell metallo-endopeptidase (Kell blood group)
RGD ID: 1316929
HGNC Page HGNC:6308
Description: Enables metalloendopeptidase activity. Predicted to be involved in protein processing. Predicted to act upstream of or within several processes, including intracellular monoatomic cation homeostasis; regulation of axon diameter; and skeletal muscle fiber development. Located in several cellular components, including Golgi apparatus; cytosol; and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD238; ECE3; Kell; kell blood group antigen; kell blood group glycoprotein; Kell blood group, metallo-endopeptidase; Kell glycoprotein; truncated Kell blood group antigen; truncated Kell blood group glycoprotein
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
GRCh387142,941,114 - 142,962,363 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,941,114 - 142,962,363 (-)EnsemblGRCh38hg38GRCh38
GRCh377142,638,201 - 142,659,450 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,348,323 - 142,369,625 (-)NCBINCBI36Build 36hg18NCBI36
Build 347142,155,039 - 142,176,340NCBI
Celera7137,475,061 - 137,496,363 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,976,490 - 136,997,792 (-)NCBIHuRef
CHM1_17142,575,086 - 142,596,388 (-)NCBICHM1_1
T2T-CHM13v2.07144,296,525 - 144,394,915 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,040,072 - 142,061,375 (-)NCBI
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
cytosol  (IDA)
Golgi apparatus  (IDA)
membrane  (IEA,TAS)
nucleoplasm  (IDA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1712490   PMID:2980265   PMID:7570911   PMID:7683930   PMID:7737196   PMID:7849312   PMID:7858266   PMID:8652402   PMID:8669078   PMID:9647734   PMID:10438732   PMID:10556484  
PMID:10620363   PMID:11134029   PMID:11375401   PMID:12477932   PMID:12842980   PMID:13477267   PMID:15489334   PMID:15754970   PMID:15769748   PMID:16189514   PMID:16423827   PMID:17379193  
PMID:18067501   PMID:18187620   PMID:18510579   PMID:19347978   PMID:19747286   PMID:20431033   PMID:20609202   PMID:21145461   PMID:21873635   PMID:21900206   PMID:23314748   PMID:23581578  
PMID:23721226   PMID:23727116   PMID:24506314   PMID:24588083   PMID:24795954   PMID:24845979   PMID:25041236   PMID:25156717   PMID:25582271   PMID:26308465   PMID:26996808   PMID:29280152  
PMID:30418129   PMID:32296183   PMID:32598050   PMID:32814053   PMID:33231305   PMID:33675036   PMID:33961781   PMID:34137046   PMID:35140839   PMID:35852066   PMID:38644556  


Genomics

Comparative Map Data
KEL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387142,941,114 - 142,962,363 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7142,941,114 - 142,962,363 (-)EnsemblGRCh38hg38GRCh38
GRCh377142,638,201 - 142,659,450 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367142,348,323 - 142,369,625 (-)NCBINCBI36Build 36hg18NCBI36
Build 347142,155,039 - 142,176,340NCBI
Celera7137,475,061 - 137,496,363 (-)NCBICelera
Cytogenetic Map7q34NCBI
HuRef7136,976,490 - 136,997,792 (-)NCBIHuRef
CHM1_17142,575,086 - 142,596,388 (-)NCBICHM1_1
T2T-CHM13v2.07144,296,525 - 144,394,915 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,040,072 - 142,061,375 (-)NCBI
Kel
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39641,663,263 - 41,681,268 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl641,663,264 - 41,681,273 (-)EnsemblGRCm39 Ensembl
GRCm38641,686,329 - 41,704,334 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl641,686,330 - 41,704,339 (-)EnsemblGRCm38mm10GRCm38
MGSCv37641,636,329 - 41,654,324 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36641,615,942 - 41,633,896 (-)NCBIMGSCv36mm8
Celera641,638,913 - 41,656,912 (-)NCBICelera
Cytogenetic Map6B2.1NCBI
cM Map619.86NCBI
Kel
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8471,534,882 - 71,552,297 (-)NCBIGRCr8
mRatBN7.2470,568,241 - 70,585,666 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl470,568,243 - 70,585,631 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx475,485,787 - 75,502,670 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0471,399,042 - 71,415,925 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0469,807,241 - 69,824,134 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0470,979,504 - 70,996,920 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl470,979,504 - 70,996,395 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04135,766,569 - 135,783,987 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4469,392,846 - 69,409,737 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera465,533,172 - 65,550,063 (-)NCBICelera
Cytogenetic Map4q23NCBI
Kel
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955494668,798 - 688,079 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955494668,188 - 688,036 (+)NCBIChiLan1.0ChiLan1.0
LOC100989368
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26179,752,428 - 180,141,077 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1731,762,687 - 31,860,321 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07134,897,567 - 135,237,214 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17147,422,965 - 147,444,255 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7147,423,103 - 147,443,895 (-)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl7147,389,844 - 147,415,404 (-)Ensemblpanpan1.1panPan2
KEL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1166,396,724 - 6,645,221 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl166,623,824 - 6,645,094 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha167,535,089 - 7,558,835 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0166,250,137 - 6,556,234 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl166,536,981 - 6,556,219 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1166,197,531 - 6,509,648 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0166,049,436 - 6,361,088 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0166,124,842 - 6,419,811 (+)NCBIUU_Cfam_GSD_1.0
Kel
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511812,477,820 - 12,497,394 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936527406,132 - 427,186 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936527406,061 - 431,142 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KEL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl187,259,144 - 7,279,328 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1187,242,378 - 7,279,345 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,555,045 - 7,594,117 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KEL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121111,819,230 - 111,846,966 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21111,819,368 - 111,840,142 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660728,542,852 - 8,567,980 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kel
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462480011,870,759 - 11,894,190 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462480011,871,226 - 11,892,584 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KEL
75 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) single nucleotide variant Kel6 antigen [RCV000024078]|not provided [RCV000514536] Chr7:142943026 [GRCh38]
Chr7:142640113 [GRCh37]
Chr7:7q34
pathogenic|benign
NM_000420.3(KEL):c.578C>T (p.Thr193Met) single nucleotide variant KELL K/k BLOOD GROUP POLYMORPHISM [RCV000019295]|not provided [RCV004711999] Chr7:142957921 [GRCh38]
Chr7:142655008 [GRCh37]
Chr7:7q34
benign
NM_000420.3(KEL):c.223+1G>C single nucleotide variant KELL-NULL PHENOTYPE [RCV000019296] Chr7:142961359 [GRCh38]
Chr7:142658446 [GRCh37]
Chr7:7q34
pathogenic
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1 copy number loss See cases [RCV000050639] Chr7:142578948..144254897 [GRCh38]
Chr7:142528609..143951990 [GRCh37]
Chr7:141967554..143582923 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
NM_000420.2(KEL):c.1506G>A (p.Ser502=) single nucleotide variant Malignant melanoma [RCV000067711] Chr7:142943869 [GRCh38]
Chr7:142640956 [GRCh37]
Chr7:142351078 [NCBI36]
Chr7:7q34
not provided
NM_000420.2(KEL):c.1329C>T (p.Phe443=) single nucleotide variant Malignant melanoma [RCV000067712] Chr7:142944727 [GRCh38]
Chr7:142641814 [GRCh37]
Chr7:142351936 [NCBI36]
Chr7:7q34
not provided
GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3 copy number gain See cases [RCV000133645] Chr7:141126407..145652221 [GRCh38]
Chr7:140826207..145349314 [GRCh37]
Chr7:140472676..144980247 [NCBI36]
Chr7:7q34-35
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3 copy number gain See cases [RCV000143724] Chr7:140061285..144622893 [GRCh38]
Chr7:139761085..144319986 [GRCh37]
Chr7:139407554..143950919 [NCBI36]
Chr7:7q34-35
uncertain significance
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000420.3(KEL):c.164T>C (p.Leu55Ser) single nucleotide variant not specified [RCV004326307] Chr7:142961419 [GRCh38]
Chr7:142658506 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1487A>G (p.Asn496Ser) single nucleotide variant not specified [RCV004320117] Chr7:142944327 [GRCh38]
Chr7:142641414 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34(chr7:141937588-142716850)x3 copy number gain Newborn respiratory distress syndrome [RCV002284310] Chr7:141937588..142716850 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000420.3(KEL):c.1933G>T (p.Ala645Ser) single nucleotide variant not specified [RCV004312146] Chr7:142942883 [GRCh38]
Chr7:142639970 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3 copy number gain Neurodevelopmental disorder [RCV003327610] Chr7:138620939..159233475 [GRCh38]
Chr7:7q34-36.3
likely pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
NM_000420.3(KEL):c.257G>A (p.Arg86Gln) single nucleotide variant Kell blood group system [RCV001543599] Chr7:142961071 [GRCh38]
Chr7:142658158 [GRCh37]
Chr7:7q34
affects
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-35(chr7:139623170-143710268)x3 copy number gain not provided [RCV000747069] Chr7:139623170..143710268 [GRCh37]
Chr7:7q34-35
benign
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_000420.3(KEL):c.586C>G (p.Leu196Val) single nucleotide variant Kell blood group system [RCV001543161] Chr7:142957913 [GRCh38]
Chr7:142655000 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1615G>A (p.Val539Ile) single nucleotide variant not provided [RCV000921231] Chr7:142943574 [GRCh38]
Chr7:142640661 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.2065G>T (p.Asp689Tyr) single nucleotide variant not provided [RCV001089646]|not specified [RCV004629447] Chr7:142941386 [GRCh38]
Chr7:142638473 [GRCh37]
Chr7:7q34
affects|uncertain significance
NM_000420.3(KEL):c.1546C>A (p.Arg516=) single nucleotide variant not provided [RCV000966199] Chr7:142943829 [GRCh38]
Chr7:142640916 [GRCh37]
Chr7:7q34
benign
NM_000420.3(KEL):c.1204-4A>G single nucleotide variant KEL-related disorder [RCV003923076]|not provided [RCV000906211] Chr7:142946321 [GRCh38]
Chr7:142643408 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3 copy number gain not provided [RCV000848670] Chr7:141751875..147105208 [GRCh37]
Chr7:7q34-35
uncertain significance
GRCh37/hg19 7q34(chr7:142565890-142706787)x3 copy number gain not provided [RCV000849722] Chr7:142565890..142706787 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34(chr7:142568958-142706787)x3 copy number gain not provided [RCV000848853] Chr7:142568958..142706787 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.972C>T (p.Phe324=) single nucleotide variant not provided [RCV000895910] Chr7:142953909 [GRCh38]
Chr7:142650996 [GRCh37]
Chr7:7q34
benign
NM_000420.3(KEL):c.1005C>T (p.Leu335=) single nucleotide variant not provided [RCV000898014] Chr7:142953876 [GRCh38]
Chr7:142650963 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
NM_000420.3(KEL):c.1720G>A (p.Ala574Thr) single nucleotide variant Kell blood group system [RCV001543598]|not specified [RCV004039259] Chr7:142943327 [GRCh38]
Chr7:142640414 [GRCh37]
Chr7:7q34
affects|uncertain significance
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3
pathogenic
NM_000420.3(KEL):c.575G>A (p.Arg192Gln) single nucleotide variant Kell blood group system [RCV001543597] Chr7:142957924 [GRCh38]
Chr7:142655011 [GRCh37]
Chr7:7q34
affects
NM_000420.3(KEL):c.1934C>T (p.Ala645Val) single nucleotide variant Kell blood group system [RCV001543624] Chr7:142942882 [GRCh38]
Chr7:142639969 [GRCh37]
Chr7:7q34
affects
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000420.3(KEL):c.977C>A (p.Pro326Gln) single nucleotide variant not provided [RCV001354845] Chr7:142953904 [GRCh38]
Chr7:142650991 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_000420.3(KEL):c.961C>T (p.Gln321Ter) single nucleotide variant Vein of Galen aneurysmal malformation [RCV001849637] Chr7:142953920 [GRCh38]
Chr7:142651007 [GRCh37]
Chr7:7q34
association
NM_000420.3(KEL):c.604G>A (p.Gly202Ser) single nucleotide variant Vein of Galen aneurysmal malformation [RCV001849635] Chr7:142957895 [GRCh38]
Chr7:142654982 [GRCh37]
Chr7:7q34
association
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_000420.3(KEL):c.1051G>A (p.Glu351Lys) single nucleotide variant not specified [RCV004113877] Chr7:142953830 [GRCh38]
Chr7:142650917 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1600G>A (p.Val534Met) single nucleotide variant not specified [RCV004136769] Chr7:142943589 [GRCh38]
Chr7:142640676 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.472A>G (p.Thr158Ala) single nucleotide variant not specified [RCV004113879] Chr7:142958357 [GRCh38]
Chr7:142655444 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.76C>G (p.Gln26Glu) single nucleotide variant not specified [RCV004139361] Chr7:142961800 [GRCh38]
Chr7:142658887 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.852G>T (p.Gln284His) single nucleotide variant not specified [RCV004154854] Chr7:142954256 [GRCh38]
Chr7:142651343 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.2005C>A (p.Pro669Thr) single nucleotide variant not specified [RCV004177169] Chr7:142942466 [GRCh38]
Chr7:142639553 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1262C>T (p.Thr421Met) single nucleotide variant not specified [RCV004097003] Chr7:142946259 [GRCh38]
Chr7:142643346 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1307G>A (p.Arg436Gln) single nucleotide variant not specified [RCV004244410] Chr7:142946214 [GRCh38]
Chr7:142643301 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.334A>G (p.Lys112Glu) single nucleotide variant not specified [RCV004227415] Chr7:142960994 [GRCh38]
Chr7:142658081 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.2183G>T (p.Arg728Leu) single nucleotide variant not specified [RCV004136871] Chr7:142941268 [GRCh38]
Chr7:142638355 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.943G>A (p.Asp315Asn) single nucleotide variant not specified [RCV004166134] Chr7:142953938 [GRCh38]
Chr7:142651025 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1006G>A (p.Val336Met) single nucleotide variant not specified [RCV004187912] Chr7:142953875 [GRCh38]
Chr7:142650962 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.538C>T (p.Arg180Cys) single nucleotide variant not specified [RCV004117777] Chr7:142957961 [GRCh38]
Chr7:142655048 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1942G>A (p.Ala648Thr) single nucleotide variant not specified [RCV004113878] Chr7:142942529 [GRCh38]
Chr7:142639616 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1934C>A (p.Ala645Glu) single nucleotide variant not specified [RCV004200314] Chr7:142942882 [GRCh38]
Chr7:142639969 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1538G>A (p.Arg513Gln) single nucleotide variant not specified [RCV004213265] Chr7:142943837 [GRCh38]
Chr7:142640924 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.2146C>T (p.Arg716Cys) single nucleotide variant not specified [RCV004106883] Chr7:142941305 [GRCh38]
Chr7:142638392 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1390A>G (p.Thr464Ala) single nucleotide variant not specified [RCV004226040] Chr7:142944666 [GRCh38]
Chr7:142641753 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.197T>G (p.Phe66Cys) single nucleotide variant not specified [RCV004140910] Chr7:142961386 [GRCh38]
Chr7:142658473 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.2141A>T (p.Tyr714Phe) single nucleotide variant not specified [RCV004114680] Chr7:142941310 [GRCh38]
Chr7:142638397 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.2086C>T (p.Pro696Ser) single nucleotide variant not specified [RCV004241381] Chr7:142941365 [GRCh38]
Chr7:142638452 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1633G>T (p.Val545Leu) single nucleotide variant not specified [RCV004121827] Chr7:142943556 [GRCh38]
Chr7:142640643 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1334C>T (p.Ala445Val) single nucleotide variant not specified [RCV004249944] Chr7:142944722 [GRCh38]
Chr7:142641809 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.400+1G>A single nucleotide variant Kell blood group system [RCV003322723] Chr7:142960927 [GRCh38]
Chr7:142658014 [GRCh37]
Chr7:7q34
pathogenic
GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1 copy number loss not provided [RCV003334300] Chr7:140154317..152551638 [GRCh37]
Chr7:7q34-36.1
pathogenic
NM_000420.3(KEL):c.296C>A (p.Pro99His) single nucleotide variant not specified [RCV004355022] Chr7:142961032 [GRCh38]
Chr7:142658119 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.868G>C (p.Glu290Gln) single nucleotide variant not specified [RCV004351427] Chr7:142954240 [GRCh38]
Chr7:142651327 [GRCh37]
Chr7:7q34
uncertain significance
GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1 copy number loss not provided [RCV003482989] Chr7:142099013..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_000420.3(KEL):c.2106C>T (p.His702=) single nucleotide variant not provided [RCV003423805] Chr7:142941345 [GRCh38]
Chr7:142638432 [GRCh37]
Chr7:7q34
likely benign
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3 copy number gain not specified [RCV003986713] Chr7:137456457..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_000420.3(KEL):c.1481A>T (p.Glu494Val) single nucleotide variant KEL-related disorder [RCV003912087] Chr7:142944333 [GRCh38]
Chr7:142641420 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.1680A>C (p.Pro560=) single nucleotide variant KEL-related disorder [RCV003919619] Chr7:142943509 [GRCh38]
Chr7:142640596 [GRCh37]
Chr7:7q34
benign
GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3 copy number gain See cases [RCV004442845] Chr7:141690279..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
NM_000420.3(KEL):c.1703+5G>A single nucleotide variant KEL-related disorder [RCV003929847] Chr7:142943481 [GRCh38]
Chr7:142640568 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.1593-4A>T single nucleotide variant KEL-related disorder [RCV003924640] Chr7:142943600 [GRCh38]
Chr7:142640687 [GRCh37]
Chr7:7q34
benign
NM_000420.3(KEL):c.1263G>A (p.Thr421=) single nucleotide variant KEL-related disorder [RCV003964727] Chr7:142946258 [GRCh38]
Chr7:142643345 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.1899A>G (p.Leu633=) single nucleotide variant KEL-related disorder [RCV003978935] Chr7:142942917 [GRCh38]
Chr7:142640004 [GRCh37]
Chr7:7q34
benign
NM_000420.3(KEL):c.1178G>A (p.Arg393Gln) single nucleotide variant not provided [RCV004560373] Chr7:142952534 [GRCh38]
Chr7:142649621 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.832A>C (p.Ile278Leu) single nucleotide variant not provided [RCV004560410] Chr7:142954276 [GRCh38]
Chr7:142651363 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.30G>C (p.Glu10Asp) single nucleotide variant not provided [RCV004560415] Chr7:142961846 [GRCh38]
Chr7:142658933 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1150G>A (p.Ala384Thr) single nucleotide variant not specified [RCV004409228] Chr7:142952562 [GRCh38]
Chr7:142649649 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1204C>A (p.Pro402Thr) single nucleotide variant not specified [RCV004409230] Chr7:142946317 [GRCh38]
Chr7:142643404 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1346C>A (p.Ala449Asp) single nucleotide variant not specified [RCV004409231] Chr7:142944710 [GRCh38]
Chr7:142641797 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.140G>C (p.Arg47Pro) single nucleotide variant not specified [RCV004409232] Chr7:142961443 [GRCh38]
Chr7:142658530 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1582C>A (p.Pro528Thr) single nucleotide variant not specified [RCV004409233] Chr7:142943793 [GRCh38]
Chr7:142640880 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1762T>C (p.Tyr588His) single nucleotide variant not specified [RCV004409234] Chr7:142943285 [GRCh38]
Chr7:142640372 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1835A>G (p.Lys612Arg) single nucleotide variant not specified [RCV004409235] Chr7:142942981 [GRCh38]
Chr7:142640068 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.443C>G (p.Ala148Gly) single nucleotide variant not specified [RCV004409236] Chr7:142958386 [GRCh38]
Chr7:142655473 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.466A>G (p.Met156Val) single nucleotide variant not specified [RCV004409237] Chr7:142958363 [GRCh38]
Chr7:142655450 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.494G>C (p.Gly165Ala) single nucleotide variant not specified [RCV004409238] Chr7:142958335 [GRCh38]
Chr7:142655422 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.657C>A (p.His219Gln) single nucleotide variant not specified [RCV004409239] Chr7:142957842 [GRCh38]
Chr7:142654929 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.1123C>A (p.Pro375Thr) single nucleotide variant not specified [RCV004628475] Chr7:142952589 [GRCh38]
Chr7:142649676 [GRCh37]
Chr7:7q34
uncertain significance
NM_000420.3(KEL):c.901A>G (p.Met301Val) single nucleotide variant not specified [RCV004628476] Chr7:142954207 [GRCh38]
Chr7:142651294 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.1211G>A (p.Arg404His) single nucleotide variant not specified [RCV004628477] Chr7:142946310 [GRCh38]
Chr7:142643397 [GRCh37]
Chr7:7q34
likely benign
NM_000420.3(KEL):c.736-10C>T single nucleotide variant KEL-related disorder [RCV004758376] Chr7:142954382 [GRCh38]
Chr7:142651469 [GRCh37]
Chr7:7q34
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2165
Count of miRNA genes:873
Interacting mature miRNAs:1058
Transcripts:ENST00000355265, ENST00000460479, ENST00000465697, ENST00000467543, ENST00000470850, ENST00000476829, ENST00000478969, ENST00000479768, ENST00000494148
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
1559221SCL67_HSerum cholesterol level QTL 67 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1578618SCL127_HSerum cholesterol level QTL 127 (human)3.7Lipid leveltriglyceride7141776251159345973Human
406919939GWAS568915_Hreticulocyte measurement QTL GWAS568915 (human)2e-17reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)7142953388142953389Human
1559218SCL69_HSerum cholesterol level QTL 69 (human)3.410.002Lipid leveltriglyceride7141776251159345973Human
597181950GWAS1278024_Hprotein measurement QTL GWAS1278024 (human)1e-46protein measurement7142954267142954268Human
1559263SCL72_HSerum cholesterol level QTL 72 (human)3.25Lipid leveltriglyceride7141776251159345973Human
1578610SCL128_HSerum cholesterol level QTL 128 (human)2.2Lipid levelLDL cholesterol7141776251159345973Human
597173074GWAS1269148_Hprotein measurement QTL GWAS1269148 (human)2e-47protein measurement7142954267142954268Human
597245845GWAS1341919_HHbA1c measurement QTL GWAS1341919 (human)1e-09HbA1c measurementblood hemoglobin A1c level (CMO:0002786)7142954267142954268Human
406911597GWAS560573_Hreticulocyte count QTL GWAS560573 (human)2e-15reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)7142954267142954268Human
406911439GWAS560415_Hreticulocyte count QTL GWAS560415 (human)4e-09reticulocyte counttotal reticulocyte count (CMO:0003020)7142954267142954268Human
597172055GWAS1268129_Hprotein measurement QTL GWAS1268129 (human)2e-23protein measurement7142954267142954268Human
596951716GWAS1071235_HHbA1c measurement QTL GWAS1071235 (human)0.000004HbA1c measurementblood hemoglobin A1c level (CMO:0002786)7142954267142954268Human
406913232GWAS562208_Hreticulocyte count QTL GWAS562208 (human)7e-09reticulocyte counttotal reticulocyte count (CMO:0003020)7142954267142954268Human
1559237SCL70_HSerum cholesterol level QTL 70 (human)3.520.002Lipid leveltriglyceride7141776251159345973Human
597084773GWAS1180847_Hreticulocyte measurement QTL GWAS1180847 (human)2e-16reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)7142953388142953389Human
597251405GWAS1347479_HHbA1c measurement QTL GWAS1347479 (human)0.000004HbA1c measurementblood hemoglobin A1c level (CMO:0002786)7142954267142954268Human
1559232SCL66_HSerum cholesterol level QTL 66 (human)2.980.002Lipid leveltriglyceride7141776251159345973Human
1559264SCL68_HSerum cholesterol level QTL 68 (human)3.10.002Lipid leveltriglyceride7141776251159345973Human
1559213SCL71_HSerum cholesterol level QTL 71 (human)3.46Lipid leveltriglyceride7141776251159345973Human
406918429GWAS567405_Hreticulocyte count QTL GWAS567405 (human)8e-17reticulocyte counttotal reticulocyte count (CMO:0003020)7142953388142953389Human

Markers in Region
KEL  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,654,928 - 142,655,051UniSTSGRCh37
Build 367142,365,050 - 142,365,173RGDNCBI36
Celera7137,491,788 - 137,491,911RGD
Cytogenetic Map7q33UniSTS
HuRef7136,993,217 - 136,993,340UniSTS
CRA_TCAGchr7v27142,056,800 - 142,056,923UniSTS
SHGC-81465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,648,832 - 142,649,136UniSTSGRCh37
Build 367142,358,954 - 142,359,258RGDNCBI36
Celera7137,485,692 - 137,485,996RGD
Cytogenetic Map7q33UniSTS
HuRef7136,987,121 - 136,987,425UniSTS
CRA_TCAGchr7v27142,050,703 - 142,051,007UniSTS
TNG Radiation Hybrid Map764444.0UniSTS
SHGC-37612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,653,540 - 142,653,689UniSTSGRCh37
Build 367142,363,662 - 142,363,811RGDNCBI36
Celera7137,490,400 - 137,490,549RGD
Cytogenetic Map7q33UniSTS
HuRef7136,991,829 - 136,991,978UniSTS
CRA_TCAGchr7v27142,055,412 - 142,055,561UniSTS
Stanford-G3 RH Map76000.0UniSTS
NCBI RH Map7995.0UniSTS
GeneMap99-G3 RH Map76000.0UniSTS
KEL_8423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,638,002 - 142,638,502UniSTSGRCh37
Build 367142,348,124 - 142,348,624RGDNCBI36
Celera7137,474,862 - 137,475,362RGD
HuRef7136,976,291 - 136,976,791UniSTS
CRA_TCAGchr7v27142,039,873 - 142,040,373UniSTS
D7S2887  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,638,276 - 142,638,412UniSTSGRCh37
Build 367142,348,398 - 142,348,534RGDNCBI36
Celera7137,475,136 - 137,475,272RGD
Cytogenetic Map7q34UniSTS
Cytogenetic Map7q33UniSTS
HuRef7136,976,565 - 136,976,701UniSTS
CRA_TCAGchr7v27142,040,147 - 142,040,283UniSTS
Stanford-G3 RH Map76006.0UniSTS
NCBI RH Map7995.0UniSTS
GeneMap99-G3 RH Map76006.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2378 2763 2228 4922 1680 2234 5 585 1873 426 2255 7085 6366 50 3704 1 804 1704 1539 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC099652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC245136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM183928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM183929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM183930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM403714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM902715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW294875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY228336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ340981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ340982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ905957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ923321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF208899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF208900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF208901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU362929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM208212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM208265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FN998902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU644370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HE572750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG326210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG512886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG512887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HG514448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN020633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN038573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN038574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN038575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC922434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF280266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF366655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF366656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF993651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF993652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF993653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF993654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF993655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ636456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ636457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX431938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX431939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX431940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC314169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC440557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC631805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN680548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN899832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN899833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN899834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN899835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN899836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LN899837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M64934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF774804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF774805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF774806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF784484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MG818162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH136803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MK991788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN275943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN275944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN275945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT009034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MT017653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW036860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW465351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ322305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MZ322306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK087528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OL742252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM296314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM296315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM296316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM296317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM985599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM985600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON931624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ236611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OU383835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PP266590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  PQ564754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S80081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000355265   ⟹   ENSP00000347409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,941,114 - 142,962,363 (-)Ensembl
Ensembl Acc Id: ENST00000460479   ⟹   ENSP00000418886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,958,304 - 142,962,206 (-)Ensembl
Ensembl Acc Id: ENST00000465697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,943,549 - 142,944,916 (-)Ensembl
Ensembl Acc Id: ENST00000467543   ⟹   ENSP00000420011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,957,830 - 142,962,327 (-)Ensembl
Ensembl Acc Id: ENST00000470850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,942,066 - 142,943,839 (-)Ensembl
Ensembl Acc Id: ENST00000476829   ⟹   ENSP00000419889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,954,344 - 142,962,301 (-)Ensembl
Ensembl Acc Id: ENST00000478969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,942,459 - 142,943,154 (-)Ensembl
Ensembl Acc Id: ENST00000479768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,946,074 - 142,962,324 (-)Ensembl
Ensembl Acc Id: ENST00000494148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7142,954,286 - 142,958,427 (-)Ensembl
RefSeq Acc Id: NM_000420   ⟹   NP_000411
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387142,941,114 - 142,962,363 (-)NCBI
GRCh377142,638,201 - 142,659,503 (-)ENTREZGENE
Build 367142,348,323 - 142,369,625 (-)NCBI Archive
HuRef7136,976,490 - 136,997,792 (-)ENTREZGENE
CHM1_17142,575,086 - 142,596,388 (-)NCBI
T2T-CHM13v2.07144,296,525 - 144,317,774 (-)NCBI
CRA_TCAGchr7v27142,040,072 - 142,061,375 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_005249993   ⟹   XP_005250050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387142,941,114 - 142,962,098 (-)NCBI
GRCh377142,638,201 - 142,659,503 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420357   ⟹   XP_047276313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387142,941,114 - 142,962,363 (-)NCBI
RefSeq Acc Id: XM_054358183   ⟹   XP_054214158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07144,296,525 - 144,317,509 (-)NCBI
RefSeq Acc Id: XM_054358184   ⟹   XP_054214159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07144,296,525 - 144,394,913 (-)NCBI
RefSeq Acc Id: XM_054358185   ⟹   XP_054214160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07144,296,525 - 144,394,915 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000411 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250050 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276313 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184680 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184681 (Get FASTA)   NCBI Sequence Viewer  
  XP_054184682 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214158 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054214160 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA03192 (Get FASTA)   NCBI Sequence Viewer  
  AAB33389 (Get FASTA)   NCBI Sequence Viewer  
  AAB33459 (Get FASTA)   NCBI Sequence Viewer  
  AAB47018 (Get FASTA)   NCBI Sequence Viewer  
  AAH03135 (Get FASTA)   NCBI Sequence Viewer  
  AAH50639 (Get FASTA)   NCBI Sequence Viewer  
  AAK69488 (Get FASTA)   NCBI Sequence Viewer  
  AAO38053 (Get FASTA)   NCBI Sequence Viewer  
  ABI75043 (Get FASTA)   NCBI Sequence Viewer  
  ABI96895 (Get FASTA)   NCBI Sequence Viewer  
  ABN11470 (Get FASTA)   NCBI Sequence Viewer  
  ABN11471 (Get FASTA)   NCBI Sequence Viewer  
  ABN11472 (Get FASTA)   NCBI Sequence Viewer  
  AER09781 (Get FASTA)   NCBI Sequence Viewer  
  AER24531 (Get FASTA)   NCBI Sequence Viewer  
  AER24532 (Get FASTA)   NCBI Sequence Viewer  
  AER57831 (Get FASTA)   NCBI Sequence Viewer  
  AGW99988 (Get FASTA)   NCBI Sequence Viewer  
  AGZ61918 (Get FASTA)   NCBI Sequence Viewer  
  AGZ61919 (Get FASTA)   NCBI Sequence Viewer  
  AHI18579 (Get FASTA)   NCBI Sequence Viewer  
  AHI18580 (Get FASTA)   NCBI Sequence Viewer  
  AHI18581 (Get FASTA)   NCBI Sequence Viewer  
  AHI18582 (Get FASTA)   NCBI Sequence Viewer  
  AHI18583 (Get FASTA)   NCBI Sequence Viewer  
  AHW82868 (Get FASTA)   NCBI Sequence Viewer  
  ARJ55429 (Get FASTA)   NCBI Sequence Viewer  
  ARJ55430 (Get FASTA)   NCBI Sequence Viewer  
  ARJ55431 (Get FASTA)   NCBI Sequence Viewer  
  ATP16323 (Get FASTA)   NCBI Sequence Viewer  
  ATP16326 (Get FASTA)   NCBI Sequence Viewer  
  AYC62208 (Get FASTA)   NCBI Sequence Viewer  
  AYN80361 (Get FASTA)   NCBI Sequence Viewer  
  BAG37351 (Get FASTA)   NCBI Sequence Viewer  
  BCV68779 (Get FASTA)   NCBI Sequence Viewer  
  CAG7855304 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30267 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30268 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30269 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30270 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30271 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30272 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30273 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30274 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30275 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30276 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30277 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30278 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30279 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30280 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30281 (Get FASTA)   NCBI Sequence Viewer  
  CAJ30282 (Get FASTA)   NCBI Sequence Viewer  
  CAJ75457 (Get FASTA)   NCBI Sequence Viewer  
  CAJ75458 (Get FASTA)   NCBI Sequence Viewer  
  CAJ75459 (Get FASTA)   NCBI Sequence Viewer  
  CAL48386 (Get FASTA)   NCBI Sequence Viewer  
  CAP18775 (Get FASTA)   NCBI Sequence Viewer  
  CAR63890 (Get FASTA)   NCBI Sequence Viewer  
  CAR63912 (Get FASTA)   NCBI Sequence Viewer  
  CBS91665 (Get FASTA)   NCBI Sequence Viewer  
  CCC42286 (Get FASTA)   NCBI Sequence Viewer  
  CDG15322 (Get FASTA)   NCBI Sequence Viewer  
  CDH92903 (Get FASTA)   NCBI Sequence Viewer  
  CDH92904 (Get FASTA)   NCBI Sequence Viewer  
  CDH93728 (Get FASTA)   NCBI Sequence Viewer  
  CEJ95651 (Get FASTA)   NCBI Sequence Viewer  
  EAW51891 (Get FASTA)   NCBI Sequence Viewer  
  EAW51892 (Get FASTA)   NCBI Sequence Viewer  
  EAW51893 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347409
  ENSP00000347409.2
  ENSP00000418886.2
  ENSP00000419889.1
  ENSP00000420011.2
  ENSP00000477793.1
  ENSP00000488333.1
  ENSP00000488564.1
  ENSP00000488896.1
GenBank Protein P23276 (Get FASTA)   NCBI Sequence Viewer  
  QGZ18968 (Get FASTA)   NCBI Sequence Viewer  
  QGZ18969 (Get FASTA)   NCBI Sequence Viewer  
  QGZ18970 (Get FASTA)   NCBI Sequence Viewer  
  QHB15065 (Get FASTA)   NCBI Sequence Viewer  
  QPF47146 (Get FASTA)   NCBI Sequence Viewer  
  UMM44943 (Get FASTA)   NCBI Sequence Viewer  
  UVJ88707 (Get FASTA)   NCBI Sequence Viewer  
  UZH24743 (Get FASTA)   NCBI Sequence Viewer  
  UZH24744 (Get FASTA)   NCBI Sequence Viewer  
  UZH24745 (Get FASTA)   NCBI Sequence Viewer  
  UZH24746 (Get FASTA)   NCBI Sequence Viewer  
  UZH24747 (Get FASTA)   NCBI Sequence Viewer  
  UZH24748 (Get FASTA)   NCBI Sequence Viewer  
  UZH24749 (Get FASTA)   NCBI Sequence Viewer  
  UZH24750 (Get FASTA)   NCBI Sequence Viewer  
  UZH24751 (Get FASTA)   NCBI Sequence Viewer  
  UZH24752 (Get FASTA)   NCBI Sequence Viewer  
  UZH24753 (Get FASTA)   NCBI Sequence Viewer  
  UZH24754 (Get FASTA)   NCBI Sequence Viewer  
  UZH24755 (Get FASTA)   NCBI Sequence Viewer  
  UZH24756 (Get FASTA)   NCBI Sequence Viewer  
  UZH24757 (Get FASTA)   NCBI Sequence Viewer  
  UZH24758 (Get FASTA)   NCBI Sequence Viewer  
  UZH24759 (Get FASTA)   NCBI Sequence Viewer  
  UZH24760 (Get FASTA)   NCBI Sequence Viewer  
  UZH24761 (Get FASTA)   NCBI Sequence Viewer  
  UZH24762 (Get FASTA)   NCBI Sequence Viewer  
  UZH24763 (Get FASTA)   NCBI Sequence Viewer  
  UZH24764 (Get FASTA)   NCBI Sequence Viewer  
  UZH24765 (Get FASTA)   NCBI Sequence Viewer  
  UZH24766 (Get FASTA)   NCBI Sequence Viewer  
  UZH24767 (Get FASTA)   NCBI Sequence Viewer  
  UZH24768 (Get FASTA)   NCBI Sequence Viewer  
  UZH24769 (Get FASTA)   NCBI Sequence Viewer  
  UZH24770 (Get FASTA)   NCBI Sequence Viewer  
  UZH24771 (Get FASTA)   NCBI Sequence Viewer  
  UZH24772 (Get FASTA)   NCBI Sequence Viewer  
  UZH24773 (Get FASTA)   NCBI Sequence Viewer  
  UZH24774 (Get FASTA)   NCBI Sequence Viewer  
  UZH24775 (Get FASTA)   NCBI Sequence Viewer  
  UZH24776 (Get FASTA)   NCBI Sequence Viewer  
  UZH24777 (Get FASTA)   NCBI Sequence Viewer  
  UZH24778 (Get FASTA)   NCBI Sequence Viewer  
  UZH24779 (Get FASTA)   NCBI Sequence Viewer  
  UZH24780 (Get FASTA)   NCBI Sequence Viewer  
  UZH24781 (Get FASTA)   NCBI Sequence Viewer  
  UZH24782 (Get FASTA)   NCBI Sequence Viewer  
  UZH24783 (Get FASTA)   NCBI Sequence Viewer  
  UZH24784 (Get FASTA)   NCBI Sequence Viewer  
  UZH24785 (Get FASTA)   NCBI Sequence Viewer  
  UZH24786 (Get FASTA)   NCBI Sequence Viewer  
  UZH24787 (Get FASTA)   NCBI Sequence Viewer  
  WAA20425 (Get FASTA)   NCBI Sequence Viewer  
  WAA20426 (Get FASTA)   NCBI Sequence Viewer  
  WAA20427 (Get FASTA)   NCBI Sequence Viewer  
  WAA20428 (Get FASTA)   NCBI Sequence Viewer  
  WAA20429 (Get FASTA)   NCBI Sequence Viewer  
  WAA20430 (Get FASTA)   NCBI Sequence Viewer  
  WAA20431 (Get FASTA)   NCBI Sequence Viewer  
  WAA20432 (Get FASTA)   NCBI Sequence Viewer  
  WAA20433 (Get FASTA)   NCBI Sequence Viewer  
  WAA20434 (Get FASTA)   NCBI Sequence Viewer  
  WAA20435 (Get FASTA)   NCBI Sequence Viewer  
  WAA20436 (Get FASTA)   NCBI Sequence Viewer  
  WAA20437 (Get FASTA)   NCBI Sequence Viewer  
  WAA20438 (Get FASTA)   NCBI Sequence Viewer  
  WAA20439 (Get FASTA)   NCBI Sequence Viewer  
  WAA20440 (Get FASTA)   NCBI Sequence Viewer  
  WAA20441 (Get FASTA)   NCBI Sequence Viewer  
  WAA20442 (Get FASTA)   NCBI Sequence Viewer  
  WAA20443 (Get FASTA)   NCBI Sequence Viewer  
  WAK98748 (Get FASTA)   NCBI Sequence Viewer  
  WAK98749 (Get FASTA)   NCBI Sequence Viewer  
  WAK98750 (Get FASTA)   NCBI Sequence Viewer  
  WAK98751 (Get FASTA)   NCBI Sequence Viewer  
  WBR34600 (Get FASTA)   NCBI Sequence Viewer  
  WBR34601 (Get FASTA)   NCBI Sequence Viewer  
  WIM45099 (Get FASTA)   NCBI Sequence Viewer  
  WVS82053 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000411   ⟸   NM_000420
- UniProtKB: P23276 (UniProtKB/Swiss-Prot),   Q96RS8 (UniProtKB/Swiss-Prot),   B2RBV4 (UniProtKB/Swiss-Prot),   Q99885 (UniProtKB/Swiss-Prot),   A0A0A1TE50 (UniProtKB/TrEMBL),   A0A8D5UND5 (UniProtKB/TrEMBL),   A0A8D9FW36 (UniProtKB/TrEMBL),   B5U6Z5 (UniProtKB/TrEMBL),   A0A077QP03 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250050   ⟸   XM_005249993
- Peptide Label: isoform X1
- UniProtKB: A0A0A1TE50 (UniProtKB/TrEMBL),   A0A8D5UND5 (UniProtKB/TrEMBL),   A0A8D9FW36 (UniProtKB/TrEMBL),   B5U6Z5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000420011   ⟸   ENST00000467543
Ensembl Acc Id: ENSP00000347409   ⟸   ENST00000355265
Ensembl Acc Id: ENSP00000418886   ⟸   ENST00000460479
Ensembl Acc Id: ENSP00000419889   ⟸   ENST00000476829
RefSeq Acc Id: XP_047276313   ⟸   XM_047420357
- Peptide Label: isoform X2
- UniProtKB: A0A0A1TE50 (UniProtKB/TrEMBL),   A0A6B9JD81 (UniProtKB/TrEMBL),   A0A8D5UND5 (UniProtKB/TrEMBL),   A0A8D9FW36 (UniProtKB/TrEMBL),   B5U6Z5 (UniProtKB/TrEMBL),   D8MJ82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214160   ⟸   XM_054358185
- Peptide Label: isoform X2
- UniProtKB: A0A0A1TE50 (UniProtKB/TrEMBL),   A0A6B9JD81 (UniProtKB/TrEMBL),   A0A8D5UND5 (UniProtKB/TrEMBL),   A0A8D9FW36 (UniProtKB/TrEMBL),   B5U6Z5 (UniProtKB/TrEMBL),   D8MJ82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214159   ⟸   XM_054358184
- Peptide Label: isoform X3
- UniProtKB: Q96RS8 (UniProtKB/Swiss-Prot),   P23276 (UniProtKB/Swiss-Prot),   B2RBV4 (UniProtKB/Swiss-Prot),   Q99885 (UniProtKB/Swiss-Prot),   A0A077QP03 (UniProtKB/TrEMBL),   A0A0A1TE50 (UniProtKB/TrEMBL),   A0A8D5UND5 (UniProtKB/TrEMBL),   A0A8D9FW36 (UniProtKB/TrEMBL),   B5U6Z5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054214158   ⟸   XM_054358183
- Peptide Label: isoform X1
- UniProtKB: A0A0A1TE50 (UniProtKB/TrEMBL),   A0A8D5UND5 (UniProtKB/TrEMBL),   A0A8D9FW36 (UniProtKB/TrEMBL),   B5U6Z5 (UniProtKB/TrEMBL)
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23276-F1-model_v2 AlphaFold P23276 1-732 view protein structure

Promoters
RGD ID:6813203
Promoter ID:HG_ACW:74790
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:KEL.FAPR07,   KEL.KAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 367142,351,251 - 142,351,751 (-)MPROMDB
RGD ID:6805839
Promoter ID:HG_KWN:60088
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_000420
Position:
Human AssemblyChrPosition (strand)Source
Build 367142,369,221 - 142,369,721 (-)MPROMDB
RGD ID:7212149
Promoter ID:EPDNEW_H11821
Type:initiation region
Name:KEL_1
Description:Kell blood group, metallo-endopeptidase
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
GRCh387142,962,359 - 142,962,419EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6308 AgrOrtholog
COSMIC KEL COSMIC
Ensembl Genes ENSG00000197993 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276615 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355265 ENTREZGENE
  ENST00000355265.7 UniProtKB/Swiss-Prot
  ENST00000460479.2 UniProtKB/TrEMBL
  ENST00000467543.6 UniProtKB/TrEMBL
  ENST00000476829.5 UniProtKB/TrEMBL
  ENST00000615381.2 UniProtKB/Swiss-Prot
  ENST00000631527.1 UniProtKB/TrEMBL
  ENST00000632261.1 UniProtKB/TrEMBL
  ENST00000633704.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1380.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197993 GTEx
  ENSG00000276615 GTEx
HGNC ID HGNC:6308 ENTREZGENE
Human Proteome Map KEL Human Proteome Map
InterPro MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_dom_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3792 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3792 ENTREZGENE
OMIM 613883 OMIM
PANTHER PTHR11733 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11733:SF128 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30087 PharmGKB
PRINTS NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
RNAcentral URS0000D6E7A7 RNACentral
  URS0002617AB0 RNACentral
Superfamily-SCOP Metalloproteases ('zincins'), catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A077QP03 ENTREZGENE, UniProtKB/TrEMBL
  A0A077QPI2_HUMAN UniProtKB/TrEMBL
  A0A0A1TE50 ENTREZGENE, UniProtKB/TrEMBL
  A0A0J9YXC0_HUMAN UniProtKB/TrEMBL
  A0A0J9YXV8_HUMAN UniProtKB/TrEMBL
  A0A1W6BTL0_HUMAN UniProtKB/TrEMBL
  A0A1W6BTL9_HUMAN UniProtKB/TrEMBL
  A0A1W6BTM7_HUMAN UniProtKB/TrEMBL
  A0A2D1QUX2_HUMAN UniProtKB/TrEMBL
  A0A2D1QUX7_HUMAN UniProtKB/TrEMBL
  A0A386AST0_HUMAN UniProtKB/TrEMBL
  A0A3G2M2G2_HUMAN UniProtKB/TrEMBL
  A0A6B9JD81 ENTREZGENE, UniProtKB/TrEMBL
  A0A6B9JF66_HUMAN UniProtKB/TrEMBL
  A0A6B9KRX0_HUMAN UniProtKB/TrEMBL
  A0A7S9FT42_HUMAN UniProtKB/TrEMBL
  A0A8D5UND5 ENTREZGENE, UniProtKB/TrEMBL
  A0A8D9FW36 ENTREZGENE, UniProtKB/TrEMBL
  A0A9E8M462_HUMAN UniProtKB/TrEMBL
  A0A9E8M476_HUMAN UniProtKB/TrEMBL
  A0A9E8M480_HUMAN UniProtKB/TrEMBL
  A0A9E8M481_HUMAN UniProtKB/TrEMBL
  A0A9E8M4A0_HUMAN UniProtKB/TrEMBL
  A0A9E8M4C4_HUMAN UniProtKB/TrEMBL
  A0A9E8M4K4_HUMAN UniProtKB/TrEMBL
  A0A9E8M4M4_HUMAN UniProtKB/TrEMBL
  A0A9E8M4N1_HUMAN UniProtKB/TrEMBL
  A0A9E8M5I9_HUMAN UniProtKB/TrEMBL
  A0A9E8M5U7_HUMAN UniProtKB/TrEMBL
  A0A9E8RZK3_HUMAN UniProtKB/TrEMBL
  A0A9E8S0H9_HUMAN UniProtKB/TrEMBL
  A0A9E8S111_HUMAN UniProtKB/TrEMBL
  A0A9E8S179_HUMAN UniProtKB/TrEMBL
  A0A9E8S316_HUMAN UniProtKB/TrEMBL
  A3F6J8_HUMAN UniProtKB/TrEMBL
  A3F6J9_HUMAN UniProtKB/TrEMBL
  A3F6K0_HUMAN UniProtKB/TrEMBL
  A8YPS5_HUMAN UniProtKB/TrEMBL
  B2RBV4 ENTREZGENE
  B5U6Z5 ENTREZGENE, UniProtKB/TrEMBL
  C7TP28_HUMAN UniProtKB/TrEMBL
  D8MJ82 ENTREZGENE, UniProtKB/TrEMBL
  E7ETW3_HUMAN UniProtKB/TrEMBL
  E9PHG0_HUMAN UniProtKB/TrEMBL
  G0TQY7_HUMAN UniProtKB/TrEMBL
  G8FPZ4_HUMAN UniProtKB/TrEMBL
  G8FSY8_HUMAN UniProtKB/TrEMBL
  G8FSY9_HUMAN UniProtKB/TrEMBL
  G8FSZ0_HUMAN UniProtKB/TrEMBL
  H0Y8A1_HUMAN UniProtKB/TrEMBL
  KELL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q05GI3_HUMAN UniProtKB/TrEMBL
  Q06AK5_HUMAN UniProtKB/TrEMBL
  Q09GN6_HUMAN UniProtKB/TrEMBL
  Q0KH83_HUMAN UniProtKB/TrEMBL
  Q0KH84_HUMAN UniProtKB/TrEMBL
  Q0KH85_HUMAN UniProtKB/TrEMBL
  Q0KH86_HUMAN UniProtKB/TrEMBL
  Q0KH87_HUMAN UniProtKB/TrEMBL
  Q0KH88_HUMAN UniProtKB/TrEMBL
  Q0KH89_HUMAN UniProtKB/TrEMBL
  Q0KH90_HUMAN UniProtKB/TrEMBL
  Q0KH91_HUMAN UniProtKB/TrEMBL
  Q0KH92_HUMAN UniProtKB/TrEMBL
  Q0KH93_HUMAN UniProtKB/TrEMBL
  Q0KH95_HUMAN UniProtKB/TrEMBL
  Q0KH97_HUMAN UniProtKB/TrEMBL
  Q16297_HUMAN UniProtKB/TrEMBL
  Q2A680_HUMAN UniProtKB/TrEMBL
  Q2A681_HUMAN UniProtKB/TrEMBL
  Q2A682_HUMAN UniProtKB/TrEMBL
  Q96RS8 ENTREZGENE
  Q99885 ENTREZGENE
  S6FW08_HUMAN UniProtKB/TrEMBL
  U3R8L4_HUMAN UniProtKB/TrEMBL
  U4PCV3_HUMAN UniProtKB/TrEMBL
  U5XGV3_HUMAN UniProtKB/TrEMBL
  U5XI03_HUMAN UniProtKB/TrEMBL
  W5XNU5_HUMAN UniProtKB/TrEMBL
  W5XNU6_HUMAN UniProtKB/TrEMBL
  W5XPJ0_HUMAN UniProtKB/TrEMBL
  W5XPK6_HUMAN UniProtKB/TrEMBL
  W5XWM4_HUMAN UniProtKB/TrEMBL
  X5FSQ3_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RBV4 UniProtKB/Swiss-Prot
  Q96RS8 UniProtKB/Swiss-Prot
  Q99885 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 KEL  Kell metallo-endopeptidase (Kell blood group)  KEL  Kell blood group, metallo-endopeptidase  Symbol and/or name change 5135510 APPROVED