WASHC5-AS1 (WASHC5 antisense RNA 1) - Rat Genome Database

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Gene: WASHC5-AS1 (WASHC5 antisense RNA 1) Homo sapiens
Analyze
Symbol: WASHC5-AS1
Name: WASHC5 antisense RNA 1
RGD ID: 10400748
HGNC Page HGNC
Description: ASSOCIATED WITH hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome 1
Type: ncrna
RefSeq Status: VALIDATED
Also known as: KIAA0196 antisense RNA 1; KIAA0196-AS1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8125,040,684 - 125,044,989 (+)EnsemblGRCh38hg38GRCh38
GRCh388125,040,684 - 125,044,989 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378126,052,926 - 126,057,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map8q24.13NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:16344560  


Genomics

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:131
Count of miRNA genes:130
Interacting mature miRNAs:130
Transcripts:ENST00000519140
Prediction methods: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.


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 13 1 4
Low 1088 883 1031 285 920 174 2223 450 1409 167 1059 1145 117 701 1273 2
Below cutoff 1201 1653 609 277 659 232 1715 1298 1855 215 320 394 51 451 1158 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000519140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8125,040,684 - 125,044,989 (+)Ensembl
RefSeq Acc Id: NR_170219
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388125,040,684 - 125,044,989 (+)NCBI

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014846.4(WASHC5):c.2533A>G (p.Thr845Ala) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001331906] Chr8:125044670 [GRCh38]
Chr8:126056912 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_014846.4(WASHC5):c.2829G>A (p.Ala943=) single nucleotide variant Hereditary spastic paraplegia 8 [RCV000868154]|not specified [RCV000433147] Chr8:125043846 [GRCh38]
Chr8:126056088 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2627T>C (p.Leu876Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163717] Chr8:125044576 [GRCh38]
Chr8:126056818 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
NM_014846.4(WASHC5):c.2580C>T (p.Leu860=) single nucleotide variant not provided [RCV001092148] Chr8:125044623 [GRCh38]
Chr8:126056865 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2532C>T (p.Asn844=) single nucleotide variant not specified [RCV000615662] Chr8:125044671 [GRCh38]
Chr8:126056913 [GRCh37]
Chr8:8q24.13
likely benign
GRCh38/hg38 8q24.13(chr8:124895891-125399814)x3 copy number gain See cases [RCV000134345] Chr8:124895891..125399814 [GRCh38]
Chr8:125908133..126412056 [GRCh37]
Chr8:125977314..126481238 [NCBI36]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_014846.4(WASHC5):c.2771-7T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000198692]|Hereditary spastic paraplegia 8 [RCV000316026]|not specified [RCV000176412] Chr8:125043911 [GRCh38]
Chr8:126056153 [GRCh37]
Chr8:8q24.13
benign|likely benign
NM_014846.4(WASHC5):c.2770+18_2770+19insG insertion not specified [RCV000600902] Chr8:125043973..125043974 [GRCh38]
Chr8:126056215..126056216 [GRCh37]
Chr8:8q24.13
benign
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_014846.4(WASHC5):c.2505-9T>C single nucleotide variant not provided [RCV000872753] Chr8:125044707 [GRCh38]
Chr8:126056949 [GRCh37]
Chr8:8q24.13
likely benign
NM_014846.4(WASHC5):c.2769C>T (p.Val923=) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV000705074] Chr8:125043993 [GRCh38]
Chr8:126056235 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2667+10T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV001163716] Chr8:125044526 [GRCh38]
Chr8:126056768 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2575C>T (p.Arg859Cys) single nucleotide variant not provided [RCV000330165] Chr8:125044628 [GRCh38]
Chr8:126056870 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3 copy number gain See cases [RCV000050762] Chr8:124125245..125337217 [GRCh38]
Chr8:125137486..126349459 [GRCh37]
Chr8:125206667..126418641 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_014846.4(WASHC5):c.2850+4T>C single nucleotide variant Hereditary spastic paraplegia 8 [RCV000286638] Chr8:125043821 [GRCh38]
Chr8:126056063 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2644T>G (p.Phe882Val) single nucleotide variant not provided [RCV000762538] Chr8:125044559 [GRCh38]
Chr8:126056801 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_014846.4(WASHC5):c.2789A>C (p.Tyr930Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001069120] Chr8:125043886 [GRCh38]
Chr8:126056128 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2849A>G (p.Lys950Arg) single nucleotide variant Ritscher-Schinzel syndrome 1 [RCV001331907] Chr8:125043826 [GRCh38]
Chr8:126056068 [GRCh37]
Chr8:8q24.13
uncertain significance
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser) single nucleotide variant Hereditary spastic paraplegia 8 [RCV001340701] Chr8:125044010 [GRCh38]
Chr8:126056252 [GRCh37]
Chr8:8q24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
COSMIC WASHC5-AS1 COSMIC
Ensembl Genes ENSG00000253167 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000519140 ENTREZGENE
GTEx ENSG00000253167 GTEx
HGNC ID HGNC:43440 ENTREZGENE
Human Proteome Map WASHC5-AS1 Human Proteome Map
NCBI Gene KIAA0196-AS1 ENTREZGENE
RNAcentral URS00004847F3 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-11-29 WASHC5-AS1  WASHC5 antisense RNA 1  KIAA0196-AS1  KIAA0196 antisense RNA 1  Symbol and/or name change 5135510 APPROVED