KRTAP27-1 (keratin associated protein 27-1) - Rat Genome Database

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Gene: KRTAP27-1 (keratin associated protein 27-1) Homo sapiens
Analyze
Symbol: KRTAP27-1
Name: keratin associated protein 27-1
RGD ID: 2292072
HGNC Page HGNC:33864
Description: Predicted to enable structural molecule activity. Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: keratin-associated protein 27-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382130,337,013 - 30,337,694 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,337,013 - 30,337,694 (-)EnsemblGRCh38hg38GRCh38
GRCh372131,709,331 - 31,710,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362130,631,202 - 30,631,883 (-)NCBINCBI36Build 36hg18NCBI36
Celera2116,892,468 - 16,893,149 (-)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2117,118,218 - 17,118,899 (-)NCBIHuRef
CHM1_12131,271,043 - 31,271,724 (-)NCBICHM1_1
T2T-CHM13v2.02128,702,884 - 28,703,565 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions

Genomics

Comparative Map Data
KRTAP27-1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382130,337,013 - 30,337,694 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,337,013 - 30,337,694 (-)EnsemblGRCh38hg38GRCh38
GRCh372131,709,331 - 31,710,012 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362130,631,202 - 30,631,883 (-)NCBINCBI36Build 36hg18NCBI36
Celera2116,892,468 - 16,893,149 (-)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2117,118,218 - 17,118,899 (-)NCBIHuRef
CHM1_12131,271,043 - 31,271,724 (-)NCBICHM1_1
T2T-CHM13v2.02128,702,884 - 28,703,565 (-)NCBIT2T-CHM13v2.0
Krtap27-1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391688,467,934 - 88,468,612 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1688,467,914 - 88,468,559 (-)EnsemblGRCm39 Ensembl
GRCm381688,671,046 - 88,671,724 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1688,671,026 - 88,671,671 (-)EnsemblGRCm38mm10GRCm38
MGSCv371688,671,291 - 88,671,899 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361688,559,905 - 88,560,513 (-)NCBIMGSCv36mm8
Celera1688,876,797 - 88,877,405 (-)NCBICelera
Cytogenetic Map16C3.3NCBI
cM Map1651.39NCBI
Krtap27-1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81141,467,160 - 41,468,354 (-)NCBIGRCr8
mRatBN7.21127,980,875 - 27,982,002 (-)NCBImRatBN7.2mRatBN7.2
Rnor_6.01128,629,452 - 28,630,115 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1128,629,461 - 28,630,066 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01132,249,539 - 32,250,147 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1127,696,445 - 27,697,108 (-)NCBICelera
Cytogenetic Map11q11NCBI
LOC102030039
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540729,687,200 - 29,687,805 (-)NCBIChiLan1.0ChiLan1.0
LOC100989677
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22226,506,688 - 26,509,485 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12121,362,317 - 21,365,113 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02116,756,599 - 16,759,079 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12130,142,581 - 30,143,251 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2130,142,607 - 30,143,227 (-)Ensemblpanpan1.1panPan2
KRTAP27-1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13125,206,583 - 25,207,960 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3125,198,371 - 25,198,991 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03125,320,600 - 25,321,220 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3125,320,600 - 25,321,220 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13125,270,009 - 25,270,629 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03125,281,502 - 25,282,122 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03125,743,564 - 25,744,184 (-)NCBIUU_Cfam_GSD_1.0
LOC101968319
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497125,689,579 - 25,690,197 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493650011,777,627 - 11,778,244 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KRTAP27-1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13193,730,803 - 193,731,423 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113193,730,666 - 193,731,757 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213204,291,320 - 204,292,119 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KRTAP27-1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1261,878,206 - 61,881,526 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl261,879,765 - 61,880,385 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660714,437,532 - 4,438,379 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101705740
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474518,419,194 - 18,419,796 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KRTAP27-1
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q21.3-22.11(chr21:29850105-30680142)x3 copy number gain See cases [RCV000050615] Chr21:29850105..30680142 [GRCh38]
Chr21:31222422..32052460 [GRCh37]
Chr21:30144293..30974331 [NCBI36]
Chr21:21q21.3-22.11		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 copy number loss See cases [RCV000052799] Chr21:14000720..30903065 [GRCh38]
Chr21:15373041..32275384 [GRCh37]
Chr21:14294912..31197255 [NCBI36]
Chr21:21q11.2-22.11		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12		 pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1 copy number loss See cases [RCV000142217] Chr21:19423169..31841150 [GRCh38]
Chr21:20795486..33213462 [GRCh37]
Chr21:19717357..32135333 [NCBI36]
Chr21:21q21.1-22.11		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) copy number loss Monosomy 21 [RCV000225665] Chr21:21754822..32380347 [GRCh38]
Chr21:21q21.1-22.11		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31276879-32826955)x1 copy number loss See cases [RCV000512419] Chr21:31276879..32826955 [GRCh37]
Chr21:21q21.3-22.11		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31175434-31891623)x3 copy number gain not provided [RCV000684149] Chr21:31175434..31891623 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31171624-31990799)x3 copy number gain not provided [RCV000684153] Chr21:31171624..31990799 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3 copy number gain not provided [RCV000741530] Chr21:30214872..34896962 [GRCh37]
Chr21:21q21.3-22.11		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1 copy number loss not provided [RCV001007118] Chr21:27826100..32468109 [GRCh37]
Chr21:21q21.3-22.11		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3 copy number gain not provided [RCV000849143] Chr21:31171623..32010342 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3 copy number gain not provided [RCV000847078] Chr21:31171623..32010342 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31171624-32002762)x3 copy number gain not provided [RCV001007123] Chr21:31171624..32002762 [GRCh37]
Chr21:21q21.3-22.11		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31171624-31965248)x3 copy number gain not provided [RCV001007124] Chr21:31171624..31965248 [GRCh37]
Chr21:21q21.3-22.11		 likely benign|uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3 copy number gain See cases [RCV001194523] Chr21:31172702..32008007 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31119490-32484078)x1 copy number loss not provided [RCV001259406] Chr21:31119490..32484078 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001077711.1(KRTAP27-1):c.563C>T (p.Ser188Phe) single nucleotide variant Inborn genetic diseases [RCV003275412] Chr21:30337106 [GRCh38]
Chr21:31709424 [GRCh37]
Chr21:21q22.11		 uncertain significance
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31171624-31891623)x3 copy number gain not provided [RCV001836596] Chr21:31171624..31891623 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31119490-32485971)x1 copy number loss not provided [RCV001829261] Chr21:31119490..32485971 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445) copy number loss not specified [RCV002052728] Chr21:27185913..35853445 [GRCh37]
Chr21:21q21.3-22.12		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:30909762-32182012)x1 copy number loss not provided [RCV002473509] Chr21:30909762..32182012 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3 copy number gain not provided [RCV002475687] Chr21:29243314..32472073 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
NM_001077711.1(KRTAP27-1):c.179G>A (p.Cys60Tyr) single nucleotide variant Inborn genetic diseases [RCV002884064] Chr21:30337490 [GRCh38]
Chr21:31709808 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_001077711.1(KRTAP27-1):c.247G>A (p.Gly83Arg) single nucleotide variant Inborn genetic diseases [RCV002931468] Chr21:30337422 [GRCh38]
Chr21:31709740 [GRCh37]
Chr21:21q22.11		 likely benign
NM_001077711.1(KRTAP27-1):c.485A>G (p.Gln162Arg) single nucleotide variant Inborn genetic diseases [RCV003180764] Chr21:30337184 [GRCh38]
Chr21:31709502 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_001077711.1(KRTAP27-1):c.572G>C (p.Gly191Ala) single nucleotide variant Inborn genetic diseases [RCV003215400] Chr21:30337097 [GRCh38]
Chr21:31709415 [GRCh37]
Chr21:21q22.11		 likely benign
NM_001077711.1(KRTAP27-1):c.466C>T (p.Arg156Cys) single nucleotide variant Inborn genetic diseases [RCV003196779] Chr21:30337203 [GRCh38]
Chr21:31709521 [GRCh37]
Chr21:21q22.11		 likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3 copy number gain not provided [RCV003485220] Chr21:20408138..32852758 [GRCh37]
Chr21:21q21.1-22.11		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:47
Count of miRNA genes:47
Interacting mature miRNAs:47
Transcripts:ENST00000382835
Prediction methods:Miranda, Rnahybrid
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium
Low 1 1 1 1 2 1
Below cutoff 34 32 17 7 37 3 100 27 35 7 154 29 4 43 37 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382835   ⟹   ENSP00000372286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2130,337,013 - 30,337,694 (-)Ensembl
RefSeq Acc Id: NM_001077711   ⟹   NP_001071179
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382130,337,013 - 30,337,694 (-)NCBI
GRCh372131,709,331 - 31,710,012 (-)RGD
Build 362130,631,202 - 30,631,883 (-)NCBI Archive
Celera2116,892,468 - 16,893,149 (-)RGD
HuRef2117,118,218 - 17,118,899 (-)RGD
CHM1_12131,271,043 - 31,271,724 (-)NCBI
T2T-CHM13v2.02128,702,884 - 28,703,565 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001071179 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAE46352 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000372286
  ENSP00000372286.2
GenBank Protein Q3LI81 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001071179   ⟸   NM_001077711
- UniProtKB: Q3LI81 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000372286   ⟸   ENST00000382835

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3LI81-F1-model_v2 AlphaFold Q3LI81 1-207 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33864 AgrOrtholog
COSMIC KRTAP27-1 COSMIC
Ensembl Genes ENSG00000206107 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382835 ENTREZGENE
  ENST00000382835.2 UniProtKB/Swiss-Prot
GTEx ENSG00000206107 GTEx
HGNC ID HGNC:33864 ENTREZGENE
Human Proteome Map KRTAP27-1 Human Proteome Map
InterPro Keratin_matx UniProtKB/Swiss-Prot
  KRTAP_PMG UniProtKB/Swiss-Prot
KEGG Report hsa:643812 UniProtKB/Swiss-Prot
NCBI Gene 643812 ENTREZGENE
PANTHER KERATIN ASSOCIATED PROTEIN 3-3-RELATED UniProtKB/Swiss-Prot
  KERATIN-ASSOCIATED PROTEIN 27-1 UniProtKB/Swiss-Prot
Pfam PMG UniProtKB/Swiss-Prot
PharmGKB PA162393770 PharmGKB
UniProt KR271_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE