FAM246A (family with sequence similarity 246 member A) - Rat Genome Database

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Gene: FAM246A (family with sequence similarity 246 member A) Homo sapiens
Analyze
Symbol: FAM246A
Name: family with sequence similarity 246 member A
RGD ID: 26923911
HGNC Page HGNC:54844
Description: ASSOCIATED WITH Autism; autistic disorder; Schizophrenia; INTERACTS WITH sodium arsenite (ortholog)
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AP000552.4; AP000552.6; novel protein, similar to B830017H08Rik (M. musculus)
RGD Orthologs
Mouse
Bonobo
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,359,596 - 21,361,299 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,360,601 - 21,361,299 (-)EnsemblGRCh38hg38GRCh38
GRCh372221,714,890 - 21,715,588 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map22q11.21NCBI
T2T-CHM13v2.02221,772,328 - 21,774,031 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

Genomics

Comparative Map Data
FAM246A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,359,596 - 21,361,299 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,360,601 - 21,361,299 (-)EnsemblGRCh38hg38GRCh38
GRCh372221,714,890 - 21,715,588 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map22q11.21NCBI
T2T-CHM13v2.02221,772,328 - 21,774,031 (-)NCBIT2T-CHM13v2.0
Fam246a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391617,650,983 - 17,652,883 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1617,650,985 - 17,652,872 (+)EnsemblGRCm39 Ensembl
GRCm381617,833,119 - 17,835,019 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1617,833,121 - 17,835,008 (+)EnsemblGRCm38mm10GRCm38
MGSCv371617,833,212 - 17,835,112 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361617,746,682 - 17,748,582 (+)NCBIMGSCv36mm8
Celera1618,406,188 - 18,408,088 (+)NCBICelera
Cytogenetic Map16A3NCBI
cM Map1611.05NCBI
FAM246A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22330,901,679 - 30,909,735 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12233,450,720 - 33,458,857 (-)NCBINHGRI_mPanPan1


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 copy number loss See cases [RCV000139333] Chr22:21151097..22562620 [GRCh38]
Chr22:21505386..22905025 [GRCh37]
Chr22:19835386..21235025 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000050628] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000051298] Chr22:18339130..21454720 [GRCh38]
Chr22:18706001..21809009 [GRCh37]
Chr22:17086001..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22046408)x3 copy number gain See cases [RCV000050932] Chr22:20671366..22046408 [GRCh38]
Chr22:21025654..22400806 [GRCh37]
Chr22:19355654..20730806 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.21(chr22:18169870-21559889)x3 copy number gain See cases [RCV000051918] Chr22:18169870..21559889 [GRCh38]
Chr22:18652637..21914178 [GRCh37]
Chr22:17032637..20244178 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21441926)x1 copy number loss See cases [RCV000136758] Chr22:18339130..21441926 [GRCh38]
Chr22:18891526..21796215 [GRCh37]
Chr22:17271526..20126215 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000138187] Chr22:18339130..21454720 [GRCh38]
Chr22:18894835..21809009 [GRCh37]
Chr22:17274835..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21(chr22:18389245-21454720)x3 copy number gain See cases [RCV000137927] Chr22:18389245..21454720 [GRCh38]
Chr22:20659547..21809009 [GRCh37]
Chr22:18989547..20139009 [NCBI36]
Chr22:22q11.21		 uncertain significance
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21444466)x3 copy number gain See cases [RCV000051939] Chr22:18339130..21444466 [GRCh38]
Chr22:18909038..21798755 [GRCh37]
Chr22:17289038..20128755 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20668552-22358488)x3 copy number gain See cases [RCV000051961] Chr22:20668552..22358488 [GRCh38]
Chr22:21022840..22712836 [GRCh37]
Chr22:19352840..21042836 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 copy number loss See cases [RCV000051017] Chr22:21151069..22562663 [GRCh38]
Chr22:21505358..22905068 [GRCh37]
Chr22:19835358..21235068 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 copy number gain See cases [RCV000137493] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 copy number loss See cases [RCV000137494] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1 copy number loss See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21450597)x1 copy number loss See cases [RCV000141677] Chr22:18339130..21450597 [GRCh38]
Chr22:18916842..21804886 [GRCh37]
Chr22:17296842..20134886 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21454720)x1 copy number loss See cases [RCV000142783] Chr22:18178957..21454720 [GRCh38]
Chr22:18661724..21809009 [GRCh37]
Chr22:17041724..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3 copy number gain See cases [RCV000142641] Chr22:18339130..21447315 [GRCh38]
Chr22:18919942..21801604 [GRCh37]
Chr22:17299942..20131604 [NCBI36]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22489199)x3 copy number gain See cases [RCV000142677] Chr22:21151069..22489199 [GRCh38]
Chr22:21505358..22843524 [GRCh37]
Chr22:19835358..21173524 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20354589-21405291) copy number loss 22q11.2 central deletion syndrome [RCV003223565] Chr22:20354589..21405291 [GRCh38]
Chr22:22q11.21		 uncertain significance
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:20671366-22088366)x3 copy number gain See cases [RCV000134888] Chr22:20671366..22088366 [GRCh38]
Chr22:21025654..22442778 [GRCh37]
Chr22:19355654..20772778 [NCBI36]
Chr22:22q11.21-11.22		 uncertain significance
GRCh38/hg38 22q11.21(chr22:20711594-21583391)x1 copy number loss See cases [RCV000134522] Chr22:20711594..21583391 [GRCh38]
Chr22:21065882..21937680 [GRCh37]
Chr22:19395882..20267680 [NCBI36]
Chr22:22q11.21		 pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENST00000652479   ⟹   ENSP00000498770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,360,601 - 21,361,299 (-)Ensembl
RefSeq Acc Id: NM_001396025   ⟹   NP_001382954
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,360,601 - 21,361,299 (-)NCBI
T2T-CHM13v2.02221,773,333 - 21,774,031 (-)NCBI
RefSeq Acc Id: XM_047441116   ⟹   XP_047297072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,359,596 - 21,361,299 (-)NCBI
RefSeq Acc Id: XM_054325062   ⟹   XP_054181037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,772,328 - 21,774,031 (-)NCBI
RefSeq Acc Id: XR_007067957
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,359,596 - 21,361,299 (-)NCBI
RefSeq Acc Id: XR_008485365
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02221,772,328 - 21,774,031 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001382954 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054181037 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A494C0Y3 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000498770
  ENSP00000498770.1
RefSeq Acc Id: NP_001382954   ⟸   NM_001396025
- UniProtKB: A0A494C0Y3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047297072   ⟸   XM_047441116
- Peptide Label: isoform X1
- UniProtKB: A0A494C0Y3 (UniProtKB/Swiss-Prot)
Ensembl Acc Id: ENSP00000498770   ⟸   ENST00000652479
RefSeq Acc Id: XP_054181037   ⟸   XM_054325062
- Peptide Label: isoform X1
- UniProtKB: A0A494C0Y3 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A494C0Y3-F1-model_v2 AlphaFold A0A494C0Y3 1-232 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:54844 AgrOrtholog
COSMIC FAM246A COSMIC
Ensembl Genes ENSG00000286102 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000652479 ENTREZGENE
  ENST00000652479.1 UniProtKB/Swiss-Prot
GTEx ENSG00000286102 GTEx
HGNC ID HGNC:54844 ENTREZGENE
Human Proteome Map FAM246A Human Proteome Map
NCBI Gene FAM246A ENTREZGENE
UniProt A0A494C0Y3 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-07 FAM246A  family with sequence similarity 246 member A  FAM246A  family with sequence similarity 246 member A  Data merged from RGD:16571240 737654 PROVISIONAL
2020-04-20 FAM246A  family with sequence similarity 246 member A  AP000552.6  novel protein, similar to B830017H08Rik (M. musculus)  Symbol and/or name change 19259463 PROVISIONAL
2020-02-07 AP000552.6  novel protein, similar to B830017H08Rik (M. musculus)  AP000552.4  novel protein, similar to B830017H08Rik (M. musculus)  Symbol and/or name change 19259462 PROVISIONAL