KRTAP19-3 (keratin associated protein 19-3) - Rat Genome Database

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Gene: KRTAP19-3 (keratin associated protein 19-3) Homo sapiens
Analyze
Symbol: KRTAP19-3
Name: keratin associated protein 19-3
RGD ID: 1345436
HGNC Page HGNC:18938
Description: Predicted to be located in cytosol.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: glycine/tyrosine-rich protein; GTHRP; GTRHP; KAP19.3; keratin-associated protein 19-3
RGD Orthologs
Mouse
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
GRCh382130,491,462 - 30,492,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,491,462 - 30,492,013 (-)EnsemblGRCh38hg38GRCh38
GRCh372131,863,780 - 31,864,331 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362130,785,653 - 30,786,146 (-)NCBINCBI36Build 36hg18NCBI36
Build 342130,785,652 - 30,786,146NCBI
Celera2117,046,933 - 17,047,426 (-)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2117,272,801 - 17,273,294 (-)NCBIHuRef
CHM1_12131,425,491 - 31,425,984 (-)NCBICHM1_1
T2T-CHM13v2.02128,857,420 - 28,857,971 (-)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
Additional References at PubMed
PMID:12359730   PMID:12477932   PMID:32296183  


Genomics

Comparative Map Data
KRTAP19-3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382130,491,462 - 30,492,013 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2130,491,462 - 30,492,013 (-)EnsemblGRCh38hg38GRCh38
GRCh372131,863,780 - 31,864,331 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362130,785,653 - 30,786,146 (-)NCBINCBI36Build 36hg18NCBI36
Build 342130,785,652 - 30,786,146NCBI
Celera2117,046,933 - 17,047,426 (-)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2117,272,801 - 17,273,294 (-)NCBIHuRef
CHM1_12131,425,491 - 31,425,984 (-)NCBICHM1_1
T2T-CHM13v2.02128,857,420 - 28,857,971 (-)NCBIT2T-CHM13v2.0
Krtap19-3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391688,674,401 - 88,674,926 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1688,674,401 - 88,674,926 (-)EnsemblGRCm39 Ensembl
GRCm381688,877,513 - 88,878,038 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1688,877,513 - 88,878,038 (-)EnsemblGRCm38mm10GRCm38
MGSCv371688,877,758 - 88,878,283 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361688,766,380 - 88,766,849 (-)NCBIMGSCv36mm8
Celera1689,082,749 - 89,083,274 (-)NCBICelera
Cytogenetic Map16C3.3NCBI
cM Map1651.42NCBI

Variants

.
Variants in KRTAP19-3
4 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(chr21:7749532-46623792)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(chr21:14420615-48080926)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 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_181609.4(KRTAP19-3):c.178G>A (p.Gly60Arg) single nucleotide variant Inborn genetic diseases [RCV003301330] Chr21:30491780 [GRCh38]
Chr21:31864098 [GRCh37]
Chr21:21q22.11		 uncertain significance
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(chr21:31171624-31990799)x3 copy number gain not provided [RCV000684153] Chr21:31171624..31990799 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
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 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(chr21:31848346-31887658)x3 copy number gain not provided [RCV000741535] Chr21:31848346..31887658 [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 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 [RCV000847078] 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(chr21:31172702-32008007)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 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 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(chr21:14629063-48090317)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)x3 copy number gain not provided [RCV001829203] Chr21:15006457..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 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) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 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 21q21.3-22.11(chr21:31171624-31891623)x3 copy number gain not provided [RCV001836596] Chr21:31171624..31891623 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
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 21q21.3-22.12(chr21:27185913-35853445) copy number loss not specified [RCV002052728] Chr21:27185913..35853445 [GRCh37]
Chr21:21q21.3-22.12		 uncertain significance
GRCh37/hg19 21q21.3-22.11(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_181609.4(KRTAP19-3):c.128G>C (p.Gly43Ala) single nucleotide variant Inborn genetic diseases [RCV002752640] Chr21:30491830 [GRCh38]
Chr21:31864148 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_181609.4(KRTAP19-3):c.188G>T (p.Gly63Val) single nucleotide variant Inborn genetic diseases [RCV002936168] Chr21:30491770 [GRCh38]
Chr21:31864088 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_181609.4(KRTAP19-3):c.208T>C (p.Ser70Pro) single nucleotide variant Inborn genetic diseases [RCV003173097] Chr21:30491750 [GRCh38]
Chr21:31864068 [GRCh37]
Chr21:21q22.11		 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 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 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:166
Count of miRNA genes:120
Interacting mature miRNAs:127
Transcripts:ENST00000334063
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-87542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,863,785 - 31,863,996UniSTSGRCh37
Build 362130,785,656 - 30,785,867RGDNCBI36
Celera2117,046,936 - 17,047,147RGD
Cytogenetic Map21q22.1UniSTS
HuRef2117,272,804 - 17,273,015UniSTS
TNG Radiation Hybrid Map218945.0UniSTS
GeneMap99-GB4 RH Map21148.06UniSTS
NCBI RH Map21197.2UniSTS
RH103181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,863,957 - 31,864,081UniSTSGRCh37
Build 362130,785,828 - 30,785,952RGDNCBI36
Celera2117,047,108 - 17,047,232RGD
Cytogenetic Map21q22.1UniSTS
HuRef2117,272,976 - 17,273,100UniSTS
GeneMap99-GB4 RH Map21146.84UniSTS
UniSTS:494912  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,864,007 - 31,864,319UniSTSGRCh37
Build 362130,785,878 - 30,786,190RGDNCBI36
Celera2117,047,158 - 17,047,470RGD
HuRef2117,273,026 - 17,273,338UniSTS
UniSTS:483024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,864,028 - 31,864,275UniSTSGRCh37
Build 362130,785,899 - 30,786,146RGDNCBI36
Celera2117,047,179 - 17,047,426RGD
HuRef2117,273,047 - 17,273,294UniSTS


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 1
Medium 212 82 2 129
Low 4 4 7 7 3 6 595 441 5 1 5 9 1 2 517 1
Below cutoff 78 135 63 30 33 16 452 264 103 7 101 63 14 66 334

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000334063   ⟹   ENSP00000386376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2130,491,462 - 30,492,013 (-)Ensembl
RefSeq Acc Id: NM_181609   ⟹   NP_853640
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382130,491,462 - 30,492,013 (-)NCBI
GRCh372131,863,782 - 31,864,275 (-)RGD
Build 362130,785,653 - 30,786,146 (-)NCBI Archive
Celera2117,046,933 - 17,047,426 (-)RGD
HuRef2117,272,801 - 17,273,294 (-)RGD
CHM1_12131,425,491 - 31,425,984 (-)NCBI
T2T-CHM13v2.02128,857,420 - 28,857,971 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_853640 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAP97270 (Get FASTA)   NCBI Sequence Viewer  
  BAE46359 (Get FASTA)   NCBI Sequence Viewer  
  EAX09897 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000386376
  ENSP00000386376.2
GenBank Protein Q7Z4W3 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_853640   ⟸   NM_181609
- UniProtKB: Q7Z4W3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000386376   ⟸   ENST00000334063

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z4W3-F1-model_v2 AlphaFold Q7Z4W3 1-81 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18938 AgrOrtholog
COSMIC KRTAP19-3 COSMIC
Ensembl Genes ENSG00000244025 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000334063 ENTREZGENE
  ENST00000334063.6 UniProtKB/Swiss-Prot
GTEx ENSG00000244025 GTEx
HGNC ID HGNC:18938 ENTREZGENE
Human Proteome Map KRTAP19-3 Human Proteome Map
InterPro KRTAP_type6/8/16/19/20/21 UniProtKB/Swiss-Prot
KEGG Report hsa:337970 UniProtKB/Swiss-Prot
NCBI Gene 337970 ENTREZGENE
PANTHER KERATIN-ASSOCIATED PROTEIN 19-3-RELATED UniProtKB/Swiss-Prot
  KERATIN-ASSOCIATED PROTEIN 19-3-RELATED UniProtKB/Swiss-Prot
Pfam KRTAP UniProtKB/Swiss-Prot
PharmGKB PA134977711 PharmGKB
UniProt KR193_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE