FAM83A-AS1 (FAM83A antisense RNA 1) - Rat Genome Database

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Gene: FAM83A-AS1 (FAM83A antisense RNA 1) Homo sapiens
Analyze
Symbol: FAM83A-AS1
Name: FAM83A antisense RNA 1
RGD ID: 7245901
HGNC Page HGNC
Description:
Type: ncrna
RefSeq Status: VALIDATED
Also known as: HCCC11; HCCC11_v1; HCCC11_v2; RP11-539E17.4
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8123,196,536 - 123,202,743 (-)EnsemblGRCh38hg38GRCh38
GRCh388123,201,172 - 123,202,743 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378124,213,412 - 124,214,983 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368124,283,897 - 124,284,130 (-)NCBINCBI36hg18NCBI36
Celera8120,402,451 - 120,404,022 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8119,538,994 - 119,540,565 (-)NCBIHuRef
CHM1_18124,253,700 - 124,255,271 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:30659636   PMID:31522616   PMID:33015782  


Genomics

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:774
Count of miRNA genes:246
Interacting mature miRNAs:251
Transcripts:ENST00000517519, ENST00000520576, ENST00000523330
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 4 107 113 2 105 5 1 2 9 109 39 13 1
Low 61 47 373 265 89 237 493 31 92 24 515 148 30 7 136
Below cutoff 747 952 841 152 870 71 1799 636 1288 97 399 898 85 471 1173 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000517519
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,201,172 - 123,202,743 (-)Ensembl
RefSeq Acc Id: ENST00000520576
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,201,172 - 123,202,743 (-)Ensembl
RefSeq Acc Id: ENST00000523330
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,201,172 - 123,202,743 (-)Ensembl
RefSeq Acc Id: ENST00000654317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,201,150 - 123,202,358 (-)Ensembl
RefSeq Acc Id: ENST00000661117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8123,196,536 - 123,202,343 (-)Ensembl
RefSeq Acc Id: NR_024479
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388123,201,172 - 123,202,743 (-)NCBI
GRCh378124,213,412 - 124,214,983 (-)NCBI
HuRef8119,538,994 - 119,540,565 (-)NCBI
CHM1_18124,253,700 - 124,255,271 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein AAP57214 (Get FASTA)   NCBI Sequence Viewer  
  AAP59410 (Get FASTA)   NCBI Sequence Viewer  
  AAP59411 (Get FASTA)   NCBI Sequence Viewer  
  AAP59412 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences


Clinical Variants
Name Type Condition(s) Position(s) Clinical 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
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 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 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
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 8q21.13-24.3(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 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 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 8q22.3-24.3(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 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 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
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 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
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
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
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 8q24.13(chr8:122751607-123361569)x3 copy number gain See cases [RCV000050761] Chr8:122751607..123361569 [GRCh38]
Chr8:123763846..124373809 [GRCh37]
Chr8:123833027..124442990 [NCBI36]
Chr8:8q24.13
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
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 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
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

Additional Information

Database Acc Id Source(s)
COSMIC FAM83A-AS1 COSMIC
Ensembl Genes ENSG00000204949 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000517519 ENTREZGENE
GTEx ENSG00000204949 GTEx
HGNC ID HGNC:48658 ENTREZGENE
Human Proteome Map FAM83A-AS1 Human Proteome Map
NCBI Gene FAM83A-AS1 ENTREZGENE
RNAcentral URS000075ADF1 RNACentral