RIMBP3B (RIMS binding protein 3B) - Rat Genome Database

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Gene: RIMBP3B (RIMS binding protein 3B) Homo sapiens
Analyze
No known orthologs.
Symbol: RIMBP3B
Name: RIMS binding protein 3B
RGD ID: 2291768
HGNC Page HGNC:33891
Description: Predicted to enable benzodiazepine receptor binding activity. Predicted to be involved in fertilization and spermatid development. Predicted to be located in manchette. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: RIM-BP3.2; RIM-BP3.B; RIMBP3.2; RIMS binding protein 3.2; RIMS-binding protein 3.2; RIMS-binding protein 3B
RGD Orthologs
Alliance Orthologs
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382221,383,751 - 21,389,478 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2221,383,751 - 21,389,478 (+)EnsemblGRCh38hg38GRCh38
GRCh372221,738,040 - 21,743,767 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362220,067,663 - 20,073,767 (+)NCBINCBI36Build 36hg18NCBI36
Cytogenetic Map22q11.21NCBI
HuRef223,946,770 - 3,952,188 (-)NCBIHuRef
CHM1_12221,900,248 - 21,926,031 (-)NCBICHM1_1
T2T-CHM13v2.02221,958,834 - 21,964,558 (-)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
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytoskeleton  (IEA)
manchette  (IBA)
nucleus  (IBA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:17855024   PMID:18029348   PMID:21873635  


Genomics

Variants

.
Variants in RIMBP3B
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr22:18339130-21454720)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 Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050630]|See cases [RCV000050630] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
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 22q11.21-11.22(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(chr22:18169870-21559889)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(chr22:18339130-21444466)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 22q11.1-11.23(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 22q11.21-11.23(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 22q11.21-11.22(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 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23
pathogenic|uncertain significance
NM_001128635.1(RIMBP3B):c.4594C>T (p.Pro1532Ser) single nucleotide variant Malignant melanoma [RCV000072895] Chr22:21388452 [GRCh38]
Chr22:21742741 [GRCh37]
Chr22:20072741 [NCBI36]
Chr22:22q11.21
not provided
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(chr22:18339130-21454720)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 22q11.21-11.23(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 22q11.21-11.23(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 22q11.21-11.22(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(chr22:18339130-21447315)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(chr22:18339130-21454720)x3 copy number gain See cases [RCV000148102] Chr22:18339130..21454720 [GRCh38]
Chr22:18919942..21809009 [GRCh37]
Chr22:17299942..20139009 [NCBI36]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 copy number gain See cases [RCV000240040] Chr22:21400683..23654222 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800471)x1 copy number loss See cases [RCV000449444] Chr22:18916842..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:19024656-21798907)x1 copy number loss See cases [RCV000449418] Chr22:19024656..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21800797)x1 copy number loss See cases [RCV000446918] Chr22:18916842..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss See cases [RCV000447211] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471)x1 copy number loss See cases [RCV000446545] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907)x1 copy number loss See cases [RCV000447063] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907)x1 copy number loss See cases [RCV000447508] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000446664] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21915509)x1 copy number loss See cases [RCV000445962] Chr22:18916842..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss See cases [RCV000445855] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21025654-22336268)x3 copy number gain See cases [RCV000445877] Chr22:21025654..22336268 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss See cases [RCV000448538] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss See cases [RCV000511898] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001128635.2(RIMBP3B):c.4531C>T (p.Pro1511Ser) single nucleotide variant not specified [RCV004333800] Chr22:21388389 [GRCh38]
Chr22:21742678 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18916842-21804716)x1 copy number loss See cases [RCV000512402] Chr22:18916842..21804716 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18886915-21811991)x1 copy number loss See cases [RCV000663399] Chr22:18886915..21811991 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1 copy number loss not provided [RCV000684507] Chr22:21465661..23804835 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907)x1 copy number loss not provided [RCV000684514] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21800797)x1 copy number loss not provided [RCV000684516] Chr22:18648866..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18626108-21800797)x1 copy number loss not provided [RCV000684517] Chr22:18626108..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21915509)x1 copy number loss not provided [RCV000684519] Chr22:18644790..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21798907)x1 copy number loss not provided [RCV000684489] Chr22:20716876..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20311903-21800797)x1 copy number loss not provided [RCV000684498] Chr22:20311903..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1 copy number loss not provided [RCV000684499] Chr22:21465661..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 copy number loss not provided [RCV000846294] Chr22:21465661..23810042 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
NC_000022.11:g.(?_18159879)_(21387988_?)del deletion Schizophrenia [RCV000754241] Chr22:18159879..21387988 [GRCh38]
Chr22:22q11.21
pathogenic
Single allele duplication Autism [RCV000754250] Chr22:19295635..21510330 [GRCh38]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18728118-21811991)x1 copy number loss not provided [RCV000741727] Chr22:18728118..21811991 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18878409-21907671)x1 copy number loss not provided [RCV000741737] Chr22:18878409..21907671 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:21679616-22095920)x1 copy number loss not provided [RCV000741778] Chr22:21679616..22095920 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1 copy number loss not provided [RCV000741779] Chr22:21689086..22979897 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21(chr22:21692948-21776599)x1 copy number loss not provided [RCV000741780] Chr22:21692948..21776599 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21712801-21747678)x1 copy number loss not provided [RCV000741781] Chr22:21712801..21747678 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21715033-21772237)x1 copy number loss not provided [RCV000741782] Chr22:21715033..21772237 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.21(chr22:21715186-21757079)x1 copy number loss not provided [RCV000741783] Chr22:21715186..21757079 [GRCh37]
Chr22:22q11.21
benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788060] Chr22:18919477..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000788063] Chr22:18648855..21927646 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18912514-21922035) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV000767627] Chr22:18912514..21922035 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788069] Chr22:21059669..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18900755-21800277) copy number loss DiGeorge syndrome [RCV000767747] Chr22:18900755..21800277 [GRCh37]
Chr22:22q11.21
pathogenic
NM_001128635.2(RIMBP3B):c.3286C>T (p.Arg1096Cys) single nucleotide variant not specified [RCV004297039] Chr22:21387144 [GRCh38]
Chr22:21741433 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18889490-21917190)x1 copy number loss See cases [RCV000790601] Chr22:18889490..21917190 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788067] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788057] Chr22:18631364..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1 copy number loss not provided [RCV001007171] Chr22:21029655..22481498 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1 copy number loss Velocardiofacial syndrome [RCV000788059] Chr22:18636749..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788066] Chr22:20716876..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:21033586-21800471)x1 copy number loss 22q11.2 central deletion syndrome [RCV000788065] Chr22:21033586..21800471 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001128635.2(RIMBP3B):c.3266C>T (p.Pro1089Leu) single nucleotide variant not specified [RCV004306079] Chr22:21387124 [GRCh38]
Chr22:21741413 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3 copy number gain not provided [RCV002472508] Chr22:18916843..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22962962)x1 copy number loss not provided [RCV002472582] Chr22:21465662..22962962 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1 copy number loss not provided [RCV002473925] Chr22:18916828..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3 copy number gain not provided [RCV001007496] Chr22:21465661..23666232 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
Single allele deletion DiGeorge syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:16888899-22290476)x3 copy number gain not provided [RCV001007162] Chr22:16888899..22290476 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21(chr22:18844632-21797812)x1 copy number loss See cases [RCV001194550] Chr22:18844632..21797812 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:19035089-22672555)x3 copy number gain not provided [RCV001259984] Chr22:19035089..22672555 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
NC_000022.10:g.21514655_22986816del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001250235] Chr22:21514655..22986816 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21462566-22962196)x1 copy number loss See cases [RCV002285059] Chr22:21462566..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1 copy number loss not provided [RCV001827860] Chr22:20728957..21915096 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21059669-21804716)x1 copy number loss not provided [RCV001827632] Chr22:21059669..21804716 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 copy number gain not provided [RCV001836553] Chr22:21465661..24631791 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21(chr22:18916842-21798907) copy number loss DiGeorge syndrome [RCV002280729] Chr22:18916842..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916827-21804886) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280737] Chr22:18916827..21804886 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1 copy number loss Syndromic anorectal malformation [RCV002286606] Chr22:18644702..21467607 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:21322233-22065138)x1 copy number loss not provided [RCV002276113] Chr22:21322233..22065138 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20310410-21804886)x1 copy number loss See cases [RCV002286345] Chr22:20310410..21804886 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18645353-21800797) copy number loss DiGeorge syndrome [RCV002280727] Chr22:18645353..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21800471) copy number loss DiGeorge syndrome [RCV002280730] Chr22:18644790..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18648866-21798907) copy number loss DiGeorge syndrome [RCV002280731] Chr22:18648866..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20732808-21800471)x1 copy number loss See cases [RCV002287834] Chr22:20732808..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18644790-21798907) copy number loss DiGeorge syndrome [RCV002280728] Chr22:18644790..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280738] Chr22:16888899..21915509 [GRCh37]
Chr22:22q11.1-11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21798907)x1 copy number loss not provided [RCV002472521] Chr22:20728957..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21029656-22485776)x3 copy number gain not provided [RCV002473924] Chr22:21029656..22485776 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:21188487-21804597)x1 copy number loss not provided [RCV002473928] Chr22:21188487..21804597 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1 copy number loss not provided [RCV002473950] Chr22:18916843..21915509 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20725309-21804563)x1 copy number loss not provided [RCV002472527] Chr22:20725309..21804563 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1 copy number loss not provided [RCV002473959] Chr22:18644543..21800797 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20728957-21800797)x1 copy number loss not provided [RCV002472554] Chr22:20728957..21800797 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:20725318-21800797)x1 copy number loss not provided [RCV002474535] Chr22:20725318..21800797 [GRCh37]
Chr22:22q11.21
likely pathogenic
GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3 copy number gain not provided [RCV002473937] Chr22:18648867..21798907 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3 copy number gain not provided [RCV002472525] Chr22:18916843..21804563 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1 copy number loss not provided [RCV002472532] Chr22:18916843..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
NM_001128635.2(RIMBP3B):c.4795G>A (p.Ala1599Thr) single nucleotide variant not specified [RCV004186042] Chr22:21388653 [GRCh38]
Chr22:21742942 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3347G>C (p.Gly1116Ala) single nucleotide variant not specified [RCV004223847] Chr22:21387205 [GRCh38]
Chr22:21741494 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4132G>A (p.Val1378Ile) single nucleotide variant not specified [RCV004136069] Chr22:21387990 [GRCh38]
Chr22:21742279 [GRCh37]
Chr22:22q11.21
likely benign
NM_001128635.2(RIMBP3B):c.3788A>C (p.Glu1263Ala) single nucleotide variant not specified [RCV004087198] Chr22:21387646 [GRCh38]
Chr22:21741935 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3055C>T (p.Arg1019Cys) single nucleotide variant not specified [RCV004132478] Chr22:21386913 [GRCh38]
Chr22:21741202 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4799G>A (p.Gly1600Glu) single nucleotide variant not specified [RCV004205407] Chr22:21388657 [GRCh38]
Chr22:21742946 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3919C>A (p.Pro1307Thr) single nucleotide variant not specified [RCV004132541] Chr22:21387777 [GRCh38]
Chr22:21742066 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4403T>C (p.Met1468Thr) single nucleotide variant not specified [RCV004173094] Chr22:21388261 [GRCh38]
Chr22:21742550 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3325C>T (p.Pro1109Ser) single nucleotide variant not specified [RCV004221524] Chr22:21387183 [GRCh38]
Chr22:21741472 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3817A>G (p.Ser1273Gly) single nucleotide variant not specified [RCV004133818] Chr22:21387675 [GRCh38]
Chr22:21741964 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4759A>G (p.Met1587Val) single nucleotide variant not specified [RCV004219666] Chr22:21388617 [GRCh38]
Chr22:21742906 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4804G>A (p.Val1602Met) single nucleotide variant not specified [RCV004079705] Chr22:21388662 [GRCh38]
Chr22:21742951 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3273G>T (p.Glu1091Asp) single nucleotide variant not specified [RCV004089417] Chr22:21387131 [GRCh38]
Chr22:21741420 [GRCh37]
Chr22:22q11.21
likely benign
NM_001128635.2(RIMBP3B):c.4322G>A (p.Gly1441Asp) single nucleotide variant not specified [RCV004258744] Chr22:21388180 [GRCh38]
Chr22:21742469 [GRCh37]
Chr22:22q11.21
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
NM_001128635.2(RIMBP3B):c.3343G>A (p.Ala1115Thr) single nucleotide variant not specified [RCV004276220] Chr22:21387201 [GRCh38]
Chr22:21741490 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4534G>A (p.Gly1512Arg) single nucleotide variant not specified [RCV004255007] Chr22:21388392 [GRCh38]
Chr22:21742681 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21465662-22997928)x1 copy number loss not provided [RCV003483390] Chr22:21465662..22997928 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1 copy number loss See cases [RCV004442844] Chr22:18648856..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:20723686-21800471)x1 copy number loss not provided [RCV004442815] Chr22:20723686..21800471 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:20716877-21800471)x1 copy number loss not provided [RCV004442740] Chr22:20716877..21800471 [GRCh37]
Chr22:22q11.21
uncertain significance
GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3 copy number gain not provided [RCV004442843] Chr22:18649190..21800471 [GRCh37]
Chr22:22q11.21
pathogenic
GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3 copy number gain not provided [RCV004442756] Chr22:18919478..21927646 [GRCh37]
Chr22:22q11.21
pathogenic
NM_001128635.2(RIMBP3B):c.3257C>A (p.Pro1086His) single nucleotide variant not specified [RCV004451714] Chr22:21387115 [GRCh38]
Chr22:21741404 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3307C>G (p.Leu1103Val) single nucleotide variant not specified [RCV004451715] Chr22:21387165 [GRCh38]
Chr22:21741454 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.3367G>T (p.Val1123Phe) single nucleotide variant not specified [RCV004451716] Chr22:21387225 [GRCh38]
Chr22:21741514 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4837G>A (p.Gly1613Arg) single nucleotide variant not specified [RCV004451717] Chr22:21388695 [GRCh38]
Chr22:21742984 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4555G>A (p.Glu1519Lys) single nucleotide variant not specified [RCV004663141] Chr22:21388413 [GRCh38]
Chr22:21742702 [GRCh37]
Chr22:22q11.21
uncertain significance
NM_001128635.2(RIMBP3B):c.4681G>A (p.Gly1561Arg) single nucleotide variant not specified [RCV004663142] Chr22:21388539 [GRCh38]
Chr22:21742828 [GRCh37]
Chr22:22q11.21
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:202
Count of miRNA genes:191
Interacting mature miRNAs:195
Transcripts:ENST00000434111
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.


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

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
643 1248 1301 1135 2822 904 1113 205 910 87 1039 3108 3178 19 2373 284 1024 866 122

Sequence


Ensembl Acc Id: ENST00000620804   ⟹   ENSP00000479326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2221,383,751 - 21,389,478 (+)Ensembl
RefSeq Acc Id: NM_001128635   ⟹   NP_001122107
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382221,383,751 - 21,389,478 (+)NCBI
GRCh372221,738,040 - 21,743,458 (+)RGD
HuRef223,946,771 - 3,952,189 (+)RGD
CHM1_12220,456,210 - 20,461,628 (-)NCBI
T2T-CHM13v2.02221,958,834 - 21,964,558 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001122107 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NNM3 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000479326
  ENSP00000479326.1
RefSeq Acc Id: NP_001122107   ⟸   NM_001128635
- UniProtKB: A6NNM3 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000479326   ⟸   ENST00000620804
Protein Domains
Fibronectin type-III   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NNM3-F1-model_v2 AlphaFold A6NNM3 1-1639 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33891 AgrOrtholog
COSMIC RIMBP3B COSMIC
Ensembl Genes ENSG00000274600 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000620804 ENTREZGENE
  ENST00000620804.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot
  SH3 Domains UniProtKB/Swiss-Prot
GTEx ENSG00000274600 GTEx
HGNC ID HGNC:33891 ENTREZGENE
Human Proteome Map RIMBP3B Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot
  RIMBP1/2/3 UniProtKB/Swiss-Prot
  SH3-like_dom_sf UniProtKB/Swiss-Prot
  SH3_domain UniProtKB/Swiss-Prot
KEGG Report hsa:440804 UniProtKB/Swiss-Prot
NCBI Gene 440804 ENTREZGENE
OMIM 612700 OMIM
PANTHER PTHR14234 UniProtKB/Swiss-Prot
  PTHR14234:SF21 UniProtKB/Swiss-Prot
Pfam SH3_2 UniProtKB/Swiss-Prot
PharmGKB PA162401333 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot
SMART FN3 UniProtKB/Swiss-Prot
  SH3 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot
  SSF50044 UniProtKB/Swiss-Prot
UniProt A6NNM3 ENTREZGENE, UniProtKB/Swiss-Prot