FAM222A-AS1 (FAM222A antisense RNA 1) - Rat Genome Database

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Gene: FAM222A-AS1 (FAM222A antisense RNA 1) Homo sapiens
Analyze
Symbol: FAM222A-AS1
Name: FAM222A antisense RNA 1
RGD ID: 6482902
HGNC Page HGNC:28223
Description: ASSOCIATED WITH Abnormal brain morphology; INTERACTS WITH Aflatoxin B2 alpha; benzo[a]pyrene; benzo[e]pyrene
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: MGC14436
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812109,734,209 - 109,773,487 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12109,734,166 - 109,773,508 (-)EnsemblGRCh38hg38GRCh38
GRCh3712110,172,014 - 110,211,292 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera12109,795,422 - 109,835,579 (-)NCBICelera
Cytogenetic Map12q24.11ENTREZGENE
HuRef12107,188,208 - 107,227,436 (-)NCBIHuRef
CHM1_112110,139,799 - 110,179,102 (-)NCBICHM1_1
T2T-CHM13v2.012109,709,674 - 109,748,945 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:12477932   PMID:16341674   PMID:16344560  


Genomics

Variants

.
Variants in FAM222A-AS1
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13		 pathogenic
NM_032829.3(FAM222A):c.421G>A (p.Val141Met) single nucleotide variant not specified [RCV004315223] Chr12:109768350 [GRCh38]
Chr12:110206155 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.284A>T (p.His95Leu) single nucleotide variant Abnormal brain morphology [RCV000454202] Chr12:109768213 [GRCh38]
Chr12:110206018 [GRCh37]
Chr12:12q24.11		 likely pathogenic
NM_032829.3(FAM222A):c.438G>A (p.Ala146=) single nucleotide variant not provided [RCV000906995] Chr12:109768367 [GRCh38]
Chr12:110206172 [GRCh37]
Chr12:12q24.11		 benign
NM_032829.3(FAM222A):c.876G>A (p.Pro292=) single nucleotide variant not provided [RCV000882218] Chr12:109768805 [GRCh38]
Chr12:110206610 [GRCh37]
Chr12:12q24.11		 benign
NM_032829.3(FAM222A):c.1344A>G (p.Leu448=) single nucleotide variant not provided [RCV000907697] Chr12:109769273 [GRCh38]
Chr12:110207078 [GRCh37]
Chr12:12q24.11		 benign
NM_032829.3(FAM222A):c.283C>T (p.His95Tyr) single nucleotide variant not specified [RCV004301010] Chr12:109768212 [GRCh38]
Chr12:110206017 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1137G>A (p.Glu379=) single nucleotide variant not provided [RCV000974015] Chr12:109769066 [GRCh38]
Chr12:110206871 [GRCh37]
Chr12:12q24.11		 benign
NM_032829.3(FAM222A):c.578C>A (p.Pro193His) single nucleotide variant not specified [RCV004299221] Chr12:109768507 [GRCh38]
Chr12:110206312 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.262C>A (p.Arg88Ser) single nucleotide variant not specified [RCV004108203] Chr12:109768191 [GRCh38]
Chr12:110205996 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.689C>T (p.Pro230Leu) single nucleotide variant not specified [RCV004103704] Chr12:109768618 [GRCh38]
Chr12:110206423 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.902G>A (p.Arg301His) single nucleotide variant not specified [RCV004192882] Chr12:109768831 [GRCh38]
Chr12:110206636 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.547C>T (p.Pro183Ser) single nucleotide variant not specified [RCV004088228] Chr12:109768476 [GRCh38]
Chr12:110206281 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.622C>G (p.Gln208Glu) single nucleotide variant not specified [RCV004097017] Chr12:109768551 [GRCh38]
Chr12:110206356 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1133G>A (p.Arg378Gln) single nucleotide variant not specified [RCV004245299] Chr12:109769062 [GRCh38]
Chr12:110206867 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.854A>G (p.Tyr285Cys) single nucleotide variant not specified [RCV004169867] Chr12:109768783 [GRCh38]
Chr12:110206588 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.560G>A (p.Arg187Gln) single nucleotide variant not specified [RCV004247272] Chr12:109768489 [GRCh38]
Chr12:110206294 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1043C>T (p.Pro348Leu) single nucleotide variant not specified [RCV004192675] Chr12:109768972 [GRCh38]
Chr12:110206777 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.146A>T (p.Tyr49Phe) single nucleotide variant not specified [RCV004191790] Chr12:109768075 [GRCh38]
Chr12:110205880 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.329T>C (p.Val110Ala) single nucleotide variant not specified [RCV004232022] Chr12:109768258 [GRCh38]
Chr12:110206063 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1091C>T (p.Ala364Val) single nucleotide variant not specified [RCV004234550] Chr12:109769020 [GRCh38]
Chr12:110206825 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1323C>G (p.His441Gln) single nucleotide variant not specified [RCV004082285] Chr12:109769252 [GRCh38]
Chr12:110207057 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.83G>A (p.Cys28Tyr) single nucleotide variant not specified [RCV004162102] Chr12:109768012 [GRCh38]
Chr12:110205817 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.53G>A (p.Cys18Tyr) single nucleotide variant not specified [RCV004179561] Chr12:109744199 [GRCh38]
Chr12:110182004 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1183A>T (p.Ser395Cys) single nucleotide variant not specified [RCV004160373] Chr12:109769112 [GRCh38]
Chr12:110206917 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.56C>G (p.Pro19Arg) single nucleotide variant not specified [RCV004221365] Chr12:109744202 [GRCh38]
Chr12:110182007 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1078T>A (p.Cys360Ser) single nucleotide variant not specified [RCV004224965] Chr12:109769007 [GRCh38]
Chr12:110206812 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.229C>T (p.Arg77Cys) single nucleotide variant not specified [RCV004218200] Chr12:109768158 [GRCh38]
Chr12:110205963 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.400A>G (p.Thr134Ala) single nucleotide variant not specified [RCV004260766] Chr12:109768329 [GRCh38]
Chr12:110206134 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.103A>G (p.Met35Val) single nucleotide variant not specified [RCV004263737] Chr12:109768032 [GRCh38]
Chr12:110205837 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1166C>T (p.Ser389Leu) single nucleotide variant not specified [RCV004297261] Chr12:109769095 [GRCh38]
Chr12:110206900 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1339C>G (p.Arg447Gly) single nucleotide variant not specified [RCV004273964] Chr12:109769268 [GRCh38]
Chr12:110207073 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.202C>T (p.Arg68Cys) single nucleotide variant not specified [RCV004335528] Chr12:109768131 [GRCh38]
Chr12:110205936 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.285C>G (p.His95Gln) single nucleotide variant not specified [RCV004365160] Chr12:109768214 [GRCh38]
Chr12:110206019 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.896C>T (p.Pro299Leu) single nucleotide variant not specified [RCV004341174] Chr12:109768825 [GRCh38]
Chr12:110206630 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1310G>A (p.Arg437Gln) single nucleotide variant not specified [RCV004336617] Chr12:109769239 [GRCh38]
Chr12:110207044 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.646G>A (p.Ala216Thr) single nucleotide variant not specified [RCV004336892] Chr12:109768575 [GRCh38]
Chr12:110206380 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.760C>T (p.Arg254Trp) single nucleotide variant not specified [RCV004365383] Chr12:109768689 [GRCh38]
Chr12:110206494 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.844G>A (p.Gly282Ser) single nucleotide variant not specified [RCV004337240] Chr12:109768773 [GRCh38]
Chr12:110206578 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1038G>A (p.Ala346=) single nucleotide variant not provided [RCV003391992] Chr12:109768967 [GRCh38]
Chr12:110206772 [GRCh37]
Chr12:12q24.11		 likely benign
NM_032829.3(FAM222A):c.1312C>T (p.Leu438=) single nucleotide variant not provided [RCV003391993] Chr12:109769241 [GRCh38]
Chr12:110207046 [GRCh37]
Chr12:12q24.11		 likely benign
NM_032829.3(FAM222A):c.88G>T (p.Ala30Ser) single nucleotide variant not specified [RCV004381258] Chr12:109768017 [GRCh38]
Chr12:110205822 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.43C>T (p.His15Tyr) single nucleotide variant not specified [RCV004381257] Chr12:109744189 [GRCh38]
Chr12:110181994 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1109C>T (p.Thr370Met) single nucleotide variant not specified [RCV004381254] Chr12:109769038 [GRCh38]
Chr12:110206843 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.956G>A (p.Arg319Gln) single nucleotide variant not specified [RCV004381259] Chr12:109768885 [GRCh38]
Chr12:110206690 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_032829.3(FAM222A):c.1121C>T (p.Pro374Leu) single nucleotide variant not specified [RCV004381255] Chr12:109769050 [GRCh38]
Chr12:110206855 [GRCh37]
Chr12:12q24.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:726
Count of miRNA genes:507
Interacting mature miRNAs:528
Transcripts:ENST00000536474, ENST00000541460, ENST00000541723
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.

Markers in Region
G42196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712110,207,563 - 110,207,678UniSTSGRCh37
Build 3612108,691,946 - 108,692,061RGDNCBI36
Celera12109,831,850 - 109,831,965RGD
Cytogenetic Map12q24.11UniSTS
HuRef12107,223,707 - 107,223,822UniSTS


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 pharyngeal arch
High
Medium 28 4 2 12 2 1 1 8 311 17
Low 223 31 698 183 117 173 986 577 2013 157 397 192 14 238 787 2
Below cutoff 1588 1297 587 364 627 244 2419 1158 1618 205 510 821 127 805 1383 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000536474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,734,412 - 109,735,957 (-)Ensembl
RefSeq Acc Id: ENST00000541460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,734,323 - 109,773,485 (-)Ensembl
RefSeq Acc Id: ENST00000541723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12109,734,166 - 109,773,508 (-)Ensembl
RefSeq Acc Id: NR_026661
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,734,209 - 109,773,487 (-)NCBI
GRCh3712110,172,014 - 110,211,292 (-)NCBI
HuRef12107,188,208 - 107,227,436 (-)NCBI
CHM1_112110,139,799 - 110,179,102 (-)NCBI
T2T-CHM13v2.012109,709,674 - 109,748,945 (-)NCBI
Sequence:
RefSeq Acc Id: NR_026662
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,734,209 - 109,773,487 (-)NCBI
GRCh3712110,172,014 - 110,211,292 (-)NCBI
HuRef12107,188,208 - 107,227,436 (-)NCBI
CHM1_112110,139,799 - 110,179,102 (-)NCBI
T2T-CHM13v2.012109,709,674 - 109,748,945 (-)NCBI
Sequence:
Promoters
RGD ID:15096657
Promoter ID:EPDNEWNC_H1487
Type:initiation region
Name:FAM222A-AS1_1
Description:FAM222A antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:28223]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812109,773,484 - 109,773,544EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC FAM222A-AS1 COSMIC
Ensembl Genes ENSG00000255650 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000541460 ENTREZGENE
  ENST00000541723 ENTREZGENE
GTEx ENSG00000255650 GTEx
HGNC ID HGNC:28223 ENTREZGENE
Human Proteome Map FAM222A-AS1 Human Proteome Map
NCBI Gene FAM222A-AS1 ENTREZGENE
RNAcentral URS000075B21F RNACentral
  URS000075C664 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 FAM222A-AS1  FAM222A antisense RNA 1  FAM222A-AS1  FAM222A antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED