KRTAP20-4 (keratin associated protein 20-4) - Rat Genome Database

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Gene: KRTAP20-4 (keratin associated protein 20-4) Homo sapiens
Analyze
Symbol: KRTAP20-4
Name: keratin associated protein 20-4
RGD ID: 2302448
HGNC Page HGNC:34002
Description: Predicted to be located in intermediate filament.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KAP20.4; putative keratin-associated protein 20-4
RGD Orthologs
Bonobo
Green Monkey
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
GRCh382130,620,627 - 30,620,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,620,627 - 30,620,850 (+)EnsemblGRCh38hg38GRCh38
GRCh372131,992,946 - 31,993,169 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362131,992,946 - 31,993,169 (+)NCBINCBI36Build 36hg18NCBI36
Celera2117,176,377 - 17,176,600 (+)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2117,401,742 - 17,401,965 (+)NCBIHuRef
CHM1_12131,554,682 - 31,554,905 (+)NCBICHM1_1
T2T-CHM13v2.02128,987,568 - 28,987,791 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10830953  


Genomics

Comparative Map Data
KRTAP20-4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382130,620,627 - 30,620,850 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,620,627 - 30,620,850 (+)EnsemblGRCh38hg38GRCh38
GRCh372131,992,946 - 31,993,169 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362131,992,946 - 31,993,169 (+)NCBINCBI36Build 36hg18NCBI36
Celera2117,176,377 - 17,176,600 (+)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2117,401,742 - 17,401,965 (+)NCBIHuRef
CHM1_12131,554,682 - 31,554,905 (+)NCBICHM1_1
T2T-CHM13v2.02128,987,568 - 28,987,791 (+)NCBIT2T-CHM13v2.0
LOC112438083
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22226,734,307 - 26,734,530 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12121,589,849 - 21,590,072 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02116,983,909 - 16,984,120 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12130,368,466 - 30,368,677 (+)NCBIpanpan1.1PanPan1.1panPan2
LOC119621420
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660714,111,033 - 4,111,495 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0


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(chr21:7749532-46623792)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(chr21:7749532-46653084)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 [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-q22.3(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-q22.13(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 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 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 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) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..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(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)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 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..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 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 21q22.11(chr21:31887658-32065821)x1 copy number loss not provided [RCV000741536] Chr21:31887658..32065821 [GRCh37]
Chr21:21q22.11		 benign
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(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..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(chr21:31171623-32010342)x3 copy number gain not provided [RCV000849143] Chr21:31171623..32010342 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1 copy number loss not provided [RCV001007118] Chr21:27826100..32468109 [GRCh37]
Chr21:21q21.3-22.11		 pathogenic
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 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(chr21:30909762-32182012)x1 copy number loss not provided [RCV002473509] Chr21:30909762..32182012 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3 copy number gain See cases [RCV001194523] Chr21:31172702..32008007 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31171624-32002762)x3 copy number gain not provided [RCV001007123] Chr21:31171624..32002762 [GRCh37]
Chr21:21q21.3-22.11		 likely benign
GRCh37/hg19 21q22.11(chr21:31711916-34632473)x1 copy number loss not provided [RCV001007125] Chr21:31711916..34632473 [GRCh37]
Chr21:21q22.11		 pathogenic
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(chr21:14420615-48080926)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(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
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 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(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31119490-32485971)x1 copy number loss not provided [RCV001829261] Chr21:31119490..32485971 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
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 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(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
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
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(chr21:30685776-48097372)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 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:163
Count of miRNA genes:155
Interacting mature miRNAs:157
Transcripts:ENST00000382828
Prediction methods:Microtar, 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 1 2 1 1 1 1 1 2
Low 8 24 18 12 18 3 2 7 355 18 1 2
Below cutoff 14 13 38 6 12 7 24 10 46 6 49 13 1 1 8

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382828   ⟹   ENSP00000372278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2130,620,627 - 30,620,850 (+)Ensembl
RefSeq Acc Id: NM_001350977   ⟹   NP_001337906
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382130,620,627 - 30,620,850 (+)NCBI
T2T-CHM13v2.02128,987,568 - 28,987,791 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001337906 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAE46371 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000372278
  ENSP00000372278.2
GenBank Protein Q3LI62 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001337906   ⟸   NM_001350977
- UniProtKB: Q3LI62 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000372278   ⟸   ENST00000382828

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q3LI62-F1-model_v2 AlphaFold Q3LI62 1-44 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC KRTAP20-4 COSMIC
Ensembl Genes ENSG00000206105 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000382828 ENTREZGENE
  ENST00000382828.2 UniProtKB/Swiss-Prot
GTEx ENSG00000206105 GTEx
HGNC ID HGNC:34002 ENTREZGENE
Human Proteome Map KRTAP20-4 Human Proteome Map
NCBI Gene 100151643 ENTREZGENE
PharmGKB PA162393750 PharmGKB
UniProt KR204_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE