RGD:42724419 Rat Genome Database

Variant: RGD:42724419 - Homo sapiens

RGD ID:

42724419

RS ID:

rs2063659512

ClinVar ID:

CV984040

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

OTUD5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	X	48,783,191
GRCh38	X	48,925,915

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000023.10:g.48783191G>A NM_001136158.2:c.1195C>T NM_017602.4:c.1210C>T NM_001136159.2:c.544C>T More...	02/09/2021	missense variant	pathogenic	LINKED SYNDROME

Disease Annotations Click to see Annotation Detail View

MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	OTUD5
Accession:	XM_005272622
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVAWE SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHR DPPPDKS*

Gene Symbol:	OTUD5
Accession:	NM_017602
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	404

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE QVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKN KVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_005278039
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	404

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE QVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKK NKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_011543934
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	166

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIH QNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAI EEQVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSP GTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSM KKNKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_047442248
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVE VYQYSTGTSAVEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWI EQQMLEDKKRATDWEATNEAIEEQVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRS SASSPEHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDW DDDEILASVLAVSQQEYLDSMKKNKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_024452396
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	182

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVE VYQYSTEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQML EDKKRATDWEATNEAIEEQVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSP EHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEI LASVLAVSQQEYLDSMKKNKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_006724537
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	404

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE QVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKN KVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	NM_001136159
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	182

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVE VYQYSTEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQML EDKKRATDWEATNEAIEEQVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSP EHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEIL ASVLAVSQQEYLDSMKKNKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	NM_001136157
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVAWE SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHRD PPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_005278042
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVE VYQYSTGTSAVEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWI EQQMLEDKKRATDWEATNEAIEEQVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRS SASSPEHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDW DDDEILASVLAVSQQEYLDSMKKNKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_024452397
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	182

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVE VYQYSTEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQML EDKKRATDWEATNEAIEEQVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSP EHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEIL ASVLAVSQQEYLDSMKKNKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_011543932
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	404

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTGTSAVEPINTFHGIHQN EDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEE QVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGT VLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKK NKVHRDPPPDKS*

Gene Symbol:	OTUD5
Accession:	NM_001136158
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVAWE SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHRD PPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_017029628
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	399

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTILPKKKPPPPDADPANEPPPPGPMPPAPRRGGGVGVGGGGTGVGGGDRDRDSGVVGARPRASPPPQGPLPGPPGALHR WALAVPPGAVAGPRPQQASPPPCGGPGGPGGGPGDALGAAAAGVGAAGVVVGVGGAVGVGGCCSGPGHSKRRRQAPGVGA VGGGSPEREEVGAGYNSEDEYEAAAARIEAMDPATVEQQEHWFEKALRDKKGFIIKQMKEDGACLFRAVADQVYGDQDMH EVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVEVYQYSTEPINTFHGIHQNEDEPI RVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWIEQQMLEDKKRATDWEATNEAIEEQVAWE SYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRSSASSPEHPELHAELGMKPPSPGTVLALA KPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFAGLNDWDDDEILASVLAVSQQEYLDSMKKNKVHR DPPPDKS*

Gene Symbol:	OTUD5
Accession:	XM_017029630
Location:	EXON
Amino Acid Prediction:	R to W (nonsynonymous)
Amino Acid Position:	187

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKEDGACLFRAVADQVYGDQDMHEVVRKHCMDYLMKNADYFSNYVTEDFTTYINRKRKNNCHGNHIEMQAMAEMYNRPVE VYQYSTGTSAVEPINTFHGIHQNEDEPIRVSYHRNIHYNSVVNPNKATIGVGLGLPSFKPGFAEQSLMKNAIKTSEESWI EQQMLEDKKRATDWEATNEAIEEQVAWESYLQWLRDQEKQARQVRGPSQPRKASATCSSATAAASSGLEEWTSRSPRQRS SASSPEHPELHAELGMKPPSPGTVLALAKPPSPCAPGTSSQFSAGADRATSPLVSLYPALECRALIQQMSPSAFGLNDWD DDEILASVLAVSQQEYLDSMKKNKVHRDPPPDKS*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:33523931

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001290735	CLINVAR
dbSNP (RS)	rs2063659512	CLINVAR
MedGen	C5542341	CLINVAR
NCBI Gene	OTUD5	CLINVAR
OMIM	300713	CLINVAR
	301056	CLINVAR
OMIM Allele	300713.0005	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:42724419 - Homo sapiens

Imported Disease Annotations - ClinVar