CDRT8 (CMT1A duplicated region transcript 8) - Rat Genome Database

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Gene: CDRT8 (CMT1A duplicated region transcript 8) Homo sapiens
Analyze
Symbol: CDRT8
Name: CMT1A duplicated region transcript 8
RGD ID: 1353579
HGNC Page HGNC:14387
Description: ASSOCIATED WITH Autism; autistic disorder; Charcot-Marie-Tooth disease type 3
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381715,104,985 - 15,106,187 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1715,104,979 - 15,107,133 (-)EnsemblGRCh38hg38GRCh38
GRCh371715,008,302 - 15,009,504 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map17p12NCBI
HuRef1714,902,269 - 14,903,471 (-)NCBIHuRef
CHM1_11715,017,146 - 15,018,348 (-)NCBICHM1_1
T2T-CHM13v2.01715,010,992 - 15,012,194 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:11381029  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del deletion Autosomal recessive Dejerine-Sottas syndrome [RCV000008944]|Hereditary liability to pressure palsies [RCV000008942]|Polyneuropathy, inflammatory demyelinating [RCV000008943] Chr17:14194724..15567585 [GRCh38]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14126296-15659587)x3 copy number gain See cases [RCV000051843] Chr17:14126296..15659587 [GRCh38]
Chr17:14029613..15562901 [GRCh37]
Chr17:13970338..15503626 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14186983-15578926)x3 copy number gain See cases [RCV000051845] Chr17:14186983..15578926 [GRCh38]
Chr17:14090300..15482240 [GRCh37]
Chr17:14031025..15422965 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14186983-15563870)x3 copy number gain See cases [RCV000051848] Chr17:14186983..15563870 [GRCh38]
Chr17:14090300..15467184 [GRCh37]
Chr17:14031025..15407909 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3 copy number gain See cases [RCV000052476] Chr17:10892259..17964282 [GRCh38]
Chr17:10795576..17867596 [GRCh37]
Chr17:10736301..17808321 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12(chr17:14208255-15538893)x3 copy number gain See cases [RCV000054325] Chr17:14208255..15538893 [GRCh38]
Chr17:14111572..15442207 [GRCh37]
Chr17:14052297..15382932 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208255-15538893)x1 copy number loss See cases [RCV000054326] Chr17:14208255..15538893 [GRCh38]
Chr17:14111572..15442207 [GRCh37]
Chr17:14052297..15382932 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538752)x3 copy number gain See cases [RCV000050791] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14208455-15538752)x1 copy number loss See cases [RCV000050794] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15588434)x1 copy number loss See cases [RCV000136830] Chr17:14208455..15588434 [GRCh38]
Chr17:14111772..15491748 [GRCh37]
Chr17:14052497..15432473 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14671118-15952996)x1 copy number loss See cases [RCV000137782] Chr17:14671118..15952996 [GRCh38]
Chr17:14574435..15856310 [GRCh37]
Chr17:14515160..15797035 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14186983-15570276)x3 copy number gain See cases [RCV000141380] Chr17:14186983..15570276 [GRCh38]
Chr17:14090300..15473590 [GRCh37]
Chr17:14031025..15414315 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581544)x3 copy number gain See cases [RCV000141701] Chr17:14184616..15581544 [GRCh38]
Chr17:14087933..15484858 [GRCh37]
Chr17:14028658..15425583 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581544)x1 copy number loss See cases [RCV000141702] Chr17:14184616..15581544 [GRCh38]
Chr17:14087933..15484858 [GRCh37]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15588218)x1 copy number loss See cases [RCV000141736] Chr17:14184616..15588218 [GRCh38]
Chr17:14087933..15491532 [GRCh37]
Chr17:14028658..15432257 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15579558)x1 copy number loss See cases [RCV000138441] Chr17:14208455..15579558 [GRCh38]
Chr17:14111772..15482872 [GRCh37]
Chr17:14052497..15423597 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15581044)x3 copy number gain See cases [RCV000140927] Chr17:14184616..15581044 [GRCh38]
Chr17:14087933..15484358 [GRCh37]
Chr17:14028658..15425083 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538755)x3 copy number gain See cases [RCV000137634] Chr17:14208455..15538755 [GRCh38]
Chr17:14111772..15442069 [GRCh37]
Chr17:14052497..15382794 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538755)x1 copy number loss See cases [RCV000137635] Chr17:14208455..15538755 [GRCh38]
Chr17:14111772..15442069 [GRCh37]
Chr17:14052497..15382794 [NCBI36]
Chr17:17p12		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14179737-15664355)x3 copy number gain See cases [RCV000142324] Chr17:14179737..15664355 [GRCh38]
Chr17:14083054..15567669 [GRCh37]
Chr17:14023779..15508394 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184470-15586786)x1 copy number loss See cases [RCV000143299] Chr17:14184470..15586786 [GRCh38]
Chr17:14087787..15490100 [GRCh37]
Chr17:14028512..15430825 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14184616-15597331)x3 copy number gain See cases [RCV000143303] Chr17:14184616..15597331 [GRCh38]
Chr17:14087933..15500645 [GRCh37]
Chr17:14028658..15441370 [NCBI36]
Chr17:17p12		 pathogenic|conflicting data from submitters
GRCh38/hg38 17p12(chr17:14208455-15538752)x3 copy number gain See cases [RCV000148118] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15538752)x1 copy number loss See cases [RCV000148121] Chr17:14208455..15538752 [GRCh38]
Chr17:14111772..15442066 [GRCh37]
Chr17:14052497..15382791 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12(chr17:14208455-15579558)x3 copy number gain See cases [RCV000142839] Chr17:14208455..15579558 [GRCh38]
Chr17:14111772..15482872 [GRCh37]
Chr17:14052497..15423597 [NCBI36]
Chr17:17p12		 pathogenic
GRCh38/hg38 17p12-11.2(chr17:15066799-17472457)x1 copy number loss See cases [RCV000143046] Chr17:15066799..17472457 [GRCh38]
Chr17:14970116..17375771 [GRCh37]
Chr17:14910841..17316496 [NCBI36]
Chr17:17p12-11.2		 pathogenic
GRCh38/hg38 17p12(chr17:14179737-15571773)x1 copy number loss See cases [RCV000142266] Chr17:14179737..15571773 [GRCh38]
Chr17:14083054..15475087 [GRCh37]
Chr17:14023779..15415812 [NCBI36]
Chr17:17p12		 pathogenic
NC_000017.11:g.(?_14183541)_(15573247_?)del deletion Autism [RCV000754200] Chr17:14183541..15573247 [GRCh38]
Chr17:17p12		 likely pathogenic
NC_000017.11:g.(?_14178908)_(15518547_?)del deletion Schizophrenia [RCV000754199] Chr17:14178908..15518547 [GRCh38]
Chr17:17p12		 likely pathogenic
Single allele duplication not specified [RCV002286369] Chr17:11915997..17892664 [GRCh38]
Chr17:17p12-11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:161
Count of miRNA genes:159
Interacting mature miRNAs:161
Transcripts:ENST00000579752
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
407249896GWAS898872_Hcarotid atherosclerosis QTL GWAS898872 (human)0.000004carotid atherosclerosis171510511315105114Human

Markers in Region
RH98604  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371715,008,402 - 15,008,539UniSTSGRCh37
Build 361714,949,127 - 14,949,264RGDNCBI36
Celera1715,033,039 - 15,033,176RGD
Cytogenetic Map17p12UniSTS
HuRef1714,902,369 - 14,902,506UniSTS
GeneMap99-GB4 RH Map1786.91UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
213 243 742 612 557 85 249 24 43 8 485 955 985 5 497 77 493 208 16

Sequence


Ensembl Acc Id: ENST00000579752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,104,979 - 15,106,187 (-)Ensembl
Ensembl Acc Id: ENST00000719528
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1715,104,979 - 15,107,133 (-)Ensembl
RefSeq Acc Id: NR_103559
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381715,104,985 - 15,106,187 (-)NCBI
GRCh371715,008,302 - 15,009,504 (-)NCBI
HuRef1714,902,269 - 14,903,471 (-)NCBI
CHM1_11715,017,146 - 15,018,348 (-)NCBI
T2T-CHM13v2.01715,010,992 - 15,012,194 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC CDRT8 COSMIC
Ensembl Genes ENSG00000265163 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000579752 ENTREZGENE
GTEx ENSG00000265163 GTEx
HGNC ID HGNC:14387 ENTREZGENE
Human Proteome Map CDRT8 Human Proteome Map
NCBI Gene CDRT8 ENTREZGENE
PharmGKB PA26344 PharmGKB
RNAcentral URS000075AC97 RNACentral