ITIH4-AS1 (ITIH4 antisense RNA 1) - Rat Genome Database

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Gene: ITIH4-AS1 (ITIH4 antisense RNA 1) Homo sapiens
Analyze
Symbol: ITIH4-AS1
Name: ITIH4 antisense RNA 1
RGD ID: 6481341
HGNC Page HGNC:40310
Description:
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
GRCh38352,823,935 - 52,825,314 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,823,935 - 52,825,314 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,857,951 - 52,859,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3p21.1NCBI
CHM1_1352,810,150 - 52,811,529 (+)NCBICHM1_1
T2T-CHM13v2.0352,856,845 - 52,858,224 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Genomics

Variants

.
Variants in ITIH4-AS1
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002218.4(ITIH4):c.1047G>A (p.Gly349=) single nucleotide variant Malignant melanoma [RCV000066147] Chr3:52824314 [GRCh38]
Chr3:52858330 [GRCh37]
Chr3:52833370 [NCBI36]
Chr3:3p21.1		 not provided
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_002218.5(ITIH4):c.1226G>A (p.Arg409Gln) single nucleotide variant not specified [RCV004288117] Chr3:52823950 [GRCh38]
Chr3:52857966 [GRCh37]
Chr3:3p21.1		 likely benign
NM_002218.5(ITIH4):c.760-7G>T single nucleotide variant ITIH4-related condition [RCV003904548] Chr3:52824965 [GRCh38]
Chr3:52858981 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_002218.5(ITIH4):c.1155T>C (p.Asp385=) single nucleotide variant not provided [RCV000942297] Chr3:52824206 [GRCh38]
Chr3:52858222 [GRCh37]
Chr3:3p21.1		 benign
NM_002218.5(ITIH4):c.1072A>G (p.Met358Val) single nucleotide variant not specified [RCV004305217] Chr3:52824289 [GRCh38]
Chr3:52858305 [GRCh37]
Chr3:3p21.1		 likely benign
NM_002218.5(ITIH4):c.1209G>A (p.Arg403=) single nucleotide variant not provided [RCV000949695] Chr3:52823967 [GRCh38]
Chr3:52857983 [GRCh37]
Chr3:3p21.1		 benign
NM_002218.5(ITIH4):c.1204G>A (p.Val402Met) single nucleotide variant ITIH4-related condition [RCV003940503]|not provided [RCV000884705] Chr3:52823972 [GRCh38]
Chr3:52857988 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity
NM_002218.5(ITIH4):c.1000G>A (p.Val334Met) single nucleotide variant not specified [RCV004095684] Chr3:52824442 [GRCh38]
Chr3:52858458 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_002218.5(ITIH4):c.1025C>T (p.Ala342Val) single nucleotide variant not specified [RCV004203767] Chr3:52824417 [GRCh38]
Chr3:52858433 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_002218.5(ITIH4):c.1112G>A (p.Arg371Gln) single nucleotide variant not specified [RCV004137149] Chr3:52824249 [GRCh38]
Chr3:52858265 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_002218.5(ITIH4):c.1225C>T (p.Arg409Trp) single nucleotide variant not specified [RCV004283261] Chr3:52823951 [GRCh38]
Chr3:52857967 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_002218.5(ITIH4):c.797A>G (p.Glu266Gly) single nucleotide variant not specified [RCV004259648] Chr3:52824921 [GRCh38]
Chr3:52858937 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_002218.5(ITIH4):c.1152C>T (p.Thr384=) single nucleotide variant ITIH4-related condition [RCV003913934] Chr3:52824209 [GRCh38]
Chr3:52858225 [GRCh37]
Chr3:3p21.1		 likely benign
NM_002218.5(ITIH4):c.812T>C (p.Met271Thr) single nucleotide variant not specified [RCV004398472] Chr3:52824906 [GRCh38]
Chr3:52858922 [GRCh37]
Chr3:3p21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:241
Count of miRNA genes:233
Interacting mature miRNAs:241
Transcripts:ENST00000478366
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 74 74 74
Low 46 445 389 317 241 316 539 142 118 18 403 110 1 52 469
Below cutoff 657 868 466 84 475 40 1456 702 869 125 310 539 48 336 1032 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000478366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,823,935 - 52,825,314 (+)Ensembl
RefSeq Acc Id: NR_046615
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,823,935 - 52,825,314 (+)NCBI
CHM1_1352,810,150 - 52,811,529 (+)NCBI
T2T-CHM13v2.0352,856,845 - 52,858,224 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC ITIH4-AS1 COSMIC
Ensembl Genes ENSG00000239799 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000478366 ENTREZGENE
GTEx ENSG00000239799 GTEx
HGNC ID HGNC:40310 ENTREZGENE
Human Proteome Map ITIH4-AS1 Human Proteome Map
NCBI Gene ITIH4-AS1 ENTREZGENE
RNAcentral URS00000CF7F0 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 ITIH4-AS1  ITIH4 antisense RNA 1  ITIH4-AS1  ITIH4 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED