FAM230B (family with sequence similarity 230 member B) - Rat Genome Database

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Gene: FAM230B (family with sequence similarity 230 member B) Homo sapiens
Analyze
Symbol: FAM230B
Name: family with sequence similarity 230 member B
RGD ID: 1603250
HGNC Page HGNC:32943
Description: ASSOCIATED WITH Autism; autistic disorder; DiGeorge syndrome; INTERACTS WITH carbon nanotube; doxorubicin; malathion
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: family with sequence similarity 230 member B (non-protein coding)
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,167,865 - 21,192,161 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,167,758 - 21,192,156 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,522,154 - 21,546,450 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362217,047,617 - 17,068,648 (-)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map22q11.21NCBI
CHM1_12221,522,433 - 21,546,683 (+)NCBICHM1_1
T2T-CHM13v2.02221,577,645 - 21,602,006 (+)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
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:29668722   PMID:30036931   PMID:35287554   PMID:35377981   PMID:35639175  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr22:18339130-21207225)x3 copy number gain See cases [RCV000133880] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000133881] Chr22:18339130..21207225 [GRCh38]
Chr22:18894835..21561514 [GRCh37]
Chr22:17274835..19891514 [NCBI36]
Chr22:22q11.21
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 22q11.1-13.33(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(chr22:20711594-21583391)x1 copy number loss See cases [RCV000134522] Chr22:20711594..21583391 [GRCh38]
Chr22:21065882..21937680 [GRCh37]
Chr22:19395882..20267680 [NCBI36]
Chr22:22q11.21
pathogenic
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(chr22:18339130-21207225)x3 copy number gain See cases [RCV000135456] Chr22:18339130..21207225 [GRCh38]
Chr22:19058829..21561514 [GRCh37]
Chr22:17438829..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3 copy number gain See cases [RCV000136518] Chr22:18178957..21307146 [GRCh38]
Chr22:18661724..21661435 [GRCh37]
Chr22:17041724..19991435 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20354600-21207225)x3 copy number gain See cases [RCV000136542] Chr22:20354600..21207225 [GRCh38]
Chr22:20708890..21561514 [GRCh37]
Chr22:19038890..19891514 [NCBI36]
Chr22:22q11.21
uncertain significance
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 22q11.21(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 22q11.21-11.22(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)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 22q11.21-11.22(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 22q11.21-11.23(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(chr22:18339130-21450597)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 22q11.21-11.22(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(chr22:18178957-21454720)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 22q11.21(chr22:18339130-21307146)x1 copy number loss See cases [RCV000142734] Chr22:18339130..21307146 [GRCh38]
Chr22:18765085..21661435 [GRCh37]
Chr22:17145085..19991435 [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(chr22:18339130-21207225)x3 copy number gain See cases [RCV000148047] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:20726972-21207225)x3 copy number gain See cases [RCV000148048] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21
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(chr22:18339130-21207225)x1 copy number loss See cases [RCV000148160] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000148186] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18188862-21182552)x1 copy number loss See cases [RCV000051286] Chr22:18188862..21182552 [GRCh38]
Chr22:18671629..21536841 [GRCh37]
Chr22:17051629..19866841 [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(chr22:21151069-22562663)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(chr22:18389245-21207225)x1 copy number loss See cases [RCV000050893] Chr22:18389245..21207225 [GRCh38]
Chr22:20659547..21561514 [GRCh37]
Chr22:18989547..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000050271] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1 copy number loss See cases [RCV000050273] Chr22:18339130..21207225 [GRCh38]
Chr22:18919942..21561514 [GRCh37]
Chr22:17299942..19891514 [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 22q11.21-12.3(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(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(chr22:18339130-21207381)x3 copy number gain See cases [RCV000051920] Chr22:18339130..21207381 [GRCh38]
Chr22:18705801..21561670 [GRCh37]
Chr22:17085801..19891670 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051938] Chr22:18339130..21207225 [GRCh38]
Chr22:18890271..21561514 [GRCh37]
Chr22:17270271..19891514 [NCBI36]
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(chr22:18339130-21207225)x3 copy number gain See cases [RCV000051944] Chr22:18339130..21207225 [GRCh38]
Chr22:20402633..21561514 [GRCh37]
Chr22:18782633..19891514 [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(chr22:20726972-21207225)x3 copy number gain See cases [RCV000051963] Chr22:20726972..21207225 [GRCh38]
Chr22:21081260..21561514 [GRCh37]
Chr22:19411260..19891514 [NCBI36]
Chr22:22q11.21
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
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
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] Chr22:21150869..22562804 [GRCh38]
Chr22:21505158..22905209 [GRCh37]
Chr22:19835158..21235209 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21(chr22:18178957-21207225)x1 copy number loss See cases [RCV000050360] Chr22:18178957..21207225 [GRCh38]
Chr22:18661724..21561514 [GRCh37]
Chr22:17041724..19891514 [NCBI36]
Chr22:22q11.21
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
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18163926)_(21277123_?)del deletion Schizophrenia [RCV000754242] Chr22:18163926..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18802709)_(21343709_?)del deletion Schizophrenia [RCV000754243] Chr22:18802709..21343709 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754249] Chr22:18904453..21277123 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_20346735)_(21277123_?)del deletion Schizophrenia [RCV000754252] Chr22:20346735..21277123 [GRCh38]
Chr22:22q11.21
likely pathogenic
NC_000022.11:g.(?_18846939)_(21221413_?)del deletion Schizophrenia [RCV000754245] Chr22:18846939..21221413 [GRCh38]
Chr22:22q11.21
pathogenic
NC_000022.11:g.(?_18159879)_(21362822_?)del deletion Schizophrenia [RCV000754240] Chr22:18159879..21362822 [GRCh38]
Chr22:22q11.21
pathogenic
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
Single allele deletion 22q11.2 deletion syndrome [RCV003221321] Chr22:18274663..21110254 [GRCh38]
Chr22:22q11.21
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1183
Count of miRNA genes:640
Interacting mature miRNAs:724
Transcripts:ENST00000415376, ENST00000415704, ENST00000420583, ENST00000421576, ENST00000424410, ENST00000430463, ENST00000446717, ENST00000451257
Prediction methods:Microtar, 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
Low 4 9 2 14 2 7 7 5 1 347 20
Below cutoff 386 465 726 68 229 40 777 319 1455 23 241 727 28 198 498 1

Sequence


RefSeq Acc Id: ENST00000415376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,167,829 - 21,192,149 (+)Ensembl
RefSeq Acc Id: ENST00000415704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,167,853 - 21,173,530 (+)Ensembl
RefSeq Acc Id: ENST00000420583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,167,853 - 21,170,852 (+)Ensembl
RefSeq Acc Id: ENST00000421576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,167,885 - 21,183,322 (+)Ensembl
RefSeq Acc Id: ENST00000424410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,169,946 - 21,182,974 (+)Ensembl
RefSeq Acc Id: ENST00000430463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,169,865 - 21,170,655 (+)Ensembl
RefSeq Acc Id: ENST00000446717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,169,813 - 21,181,056 (+)Ensembl
RefSeq Acc Id: ENST00000451257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,167,758 - 21,192,156 (+)Ensembl
RefSeq Acc Id: NR_165621
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,167,865 - 21,192,161 (+)NCBI
T2T-CHM13v2.02221,577,645 - 21,602,006 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC FAM230B COSMIC
Ensembl Genes ENSG00000215498 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000451257 ENTREZGENE
GTEx ENSG00000215498 GTEx
HGNC ID HGNC:32943 ENTREZGENE
Human Proteome Map FAM230B Human Proteome Map
NCBI Gene FAM230B ENTREZGENE
RNAcentral URS0001981168 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-22 FAM230B  family with sequence similarity 230 member B    family with sequence similarity 230 member B (non-protein coding)  Symbol and/or name change 5135510 APPROVED
2015-11-24 FAM230B  family with sequence similarity 230 member B (non-protein coding)    family with sequence similarity 230, member B (non-protein coding)  Symbol and/or name change 5135510 APPROVED
2014-01-21 FAM230B  family with sequence similarity 230, member B (non-protein coding)    family with sequence similarity 230, member B  Symbol and/or name change 5135510 APPROVED
2013-06-18 FAM230B  family with sequence similarity 230, member B  LOC284861  hypothetical gene supported by BC039313  Symbol and/or name change 5135510 APPROVED