RBMY1D (RNA binding motif protein Y-linked family 1 member D) - Rat Genome Database

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Gene: RBMY1D (RNA binding motif protein Y-linked family 1 member D) Homo sapiens
Analyze
No known orthologs.
Symbol: RBMY1D (Ensembl: RBMY1A1)
Name: RNA binding motif protein Y-linked family 1 member D (Ensembl:RNA binding motif protein Y-linked family 1 member A1)
RGD ID: 1347232
HGNC Page HGNC:23915
Description: Enables identical protein binding activity and mRNA binding activity. Involved in regulation of alternative mRNA splicing, via spliceosome. Located in nucleolus and nucleoplasm. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hRBMY; RBM1; RBM2; RBMY1A1; RNA binding motif protein, Y-linked, family 1, member D; RNA-binding motif protein 1; RNA-binding motif protein 2; RNA-binding motif protein, Y chromosome, family 1 member A1; RNA-binding motif protein, Y chromosome, family 1 member D; Y chromosome RNA recognition motif 1; YRRM1; YRRM2
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
GRCh38Y21,868,431 - 21,900,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY21,880,076 - 21,894,526 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblY21,534,879 - 21,549,326 (+)EnsemblGRCh38hg38GRCh38
GRCh37Y24,026,223 - 24,040,673 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y22,435,611 - 22,450,021 (-)NCBINCBI36Build 36hg18NCBI36
Build 34Y22,387,889 - 22,402,299NCBI
CeleraY8,917,868 - 8,932,267 (-)NCBICelera
Cytogenetic MapYq11.223NCBI
HuRefY17,242,807 - 17,254,657 (+)NCBIHuRef
T2T-CHM13v2.0Y22,703,948 - 22,736,261 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8269511   PMID:8875892   PMID:9598316   PMID:12477932   PMID:12815422   PMID:15184870   PMID:21873635   PMID:28625976   PMID:34349018  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Yp11.2-q12(chrY:2786811-56885333)x2 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|Global developmental delay [RCV000050326]|Abnormality of the heart [RCV000050327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050325]|See cases [RCV000050325] ChrY:2786811..56885333 [GRCh38]
ChrY:2654852..59031480 [GRCh37]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2 copy number gain See cases [RCV000050942] ChrY:2786811..22358529 [GRCh38]
ChrY:2654852..24504676 [GRCh37]
ChrY:2714852..22914064 [NCBI36]
ChrY:Yp11.2-q11.223		 pathogenic
GRCh37/hg19 Yq11.21-12(chrY:14698756-59031480)x0 copy number loss See cases [RCV000050825] ChrY:14698756..59031480 [GRCh37]
ChrY:13208776..57440868 [NCBI36]
ChrY:Yq11.21-12		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000050370] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051778]|See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12586822-57208726)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051768]|See cases [RCV000051768] ChrY:12586822..57208726 [GRCh38]
ChrY:14698756..59354877 [GRCh37]
ChrY:13208776..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26389995)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051767]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051767]|See cases [RCV000051767] ChrY:2786811..26389995 [GRCh38]
ChrY:2654852..28536142 [GRCh37]
ChrY:2714852..26945530 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh37/hg19 Yp11.3-q12(chrY:2651665-59031480)x2 copy number gain See cases [RCV000052585] ChrY:2651665..59031480 [GRCh37]
ChrY:2711665..57440868 [NCBI36]
ChrY:Yp11.3-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786611-26409996)x2 copy number gain See cases [RCV000052586] ChrY:2786611..26409996 [GRCh38]
ChrY:2654652..28556143 [GRCh37]
ChrY:2714652..26965531 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2 copy number gain See cases [RCV000052587] ChrY:2786811..26463830 [GRCh38]
ChrY:2654852..28609977 [GRCh37]
ChrY:2714852..27019365 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2 copy number gain See cases [RCV000052588] ChrY:2786811..26483746 [GRCh38]
ChrY:2654852..28629893 [GRCh37]
ChrY:2714852..27039281 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2 copy number gain See cases [RCV000052551] ChrY:2783624..26637948 [GRCh38]
ChrY:2651665..28784095 [GRCh37]
ChrY:2711665..27193483 [NCBI36]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2 copy number gain See cases [RCV000054342] ChrY:2787210..22302412 [GRCh38]
ChrY:2655251..24448559 [GRCh37]
ChrY:2715251..22857947 [NCBI36]
ChrY:Yp11.2-q11.223		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2 copy number gain See cases [RCV000054344] ChrY:6478684..26574618 [GRCh38]
ChrY:6346725..28720765 [GRCh37]
ChrY:6406725..27130153 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14076802-57165209)x0 copy number loss See cases [RCV000133870] ChrY:14076802..57165209 [GRCh38]
ChrY:16188682..59311360 [GRCh37]
ChrY:14698076..57720748 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13404515-57208726)x0 copy number loss See cases [RCV000051778] ChrY:13404515..57208726 [GRCh38]
ChrY:15516395..59354877 [GRCh37]
ChrY:14025789..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x0 copy number loss See cases [RCV000133673] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x3 copy number gain See cases [RCV000133672] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12965721-57212647)x0 copy number loss See cases [RCV000135325] ChrY:12965721..57212647 [GRCh38]
ChrY:15077631..59358798 [GRCh37]
ChrY:13587025..57768186 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:6270281-26463761)x0 copy number loss See cases [RCV000134844] ChrY:6270281..26463761 [GRCh38]
ChrY:6138322..28609908 [GRCh37]
ChrY:6198322..27019296 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16183453-59011762)x2 copy number gain See cases [RCV000135766] ChrY:16183453..59011762 [GRCh37]
ChrY:14692847..57421150 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18664321-26637948)x2 copy number gain See cases [RCV000135767] ChrY:18664321..26637948 [GRCh38]
ChrY:20826207..28784095 [GRCh37]
ChrY:19285595..27193483 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762) copy number loss See cases [RCV000135689] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yp11.32-q12(chrY:10701-57189762)x0 copy number loss See cases [RCV000135690] ChrY:10701..57189762 [GRCh38]
ChrY:10701..59335913 [GRCh37]
ChrY:701..57745301 [NCBI36]
ChrY:Yp11.32-q12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:13948013-57208726)x0 copy number loss See cases [RCV000135529] ChrY:13948013..57208726 [GRCh38]
ChrY:16059893..59354877 [GRCh37]
ChrY:14569287..57764265 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2786596-26575961)x0 copy number loss See cases [RCV000136110] ChrY:2786596..26575961 [GRCh38]
ChrY:2654637..28722108 [GRCh37]
ChrY:2714637..27131496 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1 copy number gain See cases [RCV000136525] ChrY:13908860..22358529 [GRCh38]
ChrY:16020740..24504676 [GRCh37]
ChrY:14530134..22914064 [NCBI36]
ChrY:Yq11.221-11.223		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:15631816-57211010)x0 copy number loss See cases [RCV000135882] ChrY:15631816..57211010 [GRCh38]
ChrY:17743696..59357161 [GRCh37]
ChrY:16253090..57766549 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.2-q11.23(chrY:2855704-24288951)x2 copy number gain See cases [RCV000136851] ChrY:2855704..24288951 [GRCh38]
ChrY:2723745..26435098 [GRCh37]
ChrY:2783745..24844486 [NCBI36]
ChrY:Yp11.2-q11.23		 pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18545732-57189762)x0 copy number loss See cases [RCV000137556] ChrY:18545732..57189762 [GRCh38]
ChrY:20707618..59335913 [GRCh37]
ChrY:19167006..57745301 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:14062885-57189762)x0 copy number loss See cases [RCV000138875] ChrY:14062885..57189762 [GRCh38]
ChrY:16174765..59335913 [GRCh37]
ChrY:14684159..57745301 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2650559-59032389)x2 copy number gain See cases [RCV000138422] ChrY:2650559..59032389 [GRCh37]
ChrY:2710559..57441777 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yp11.2-q12(chrY:2133003-56884424)x0 copy number loss See cases [RCV000139324] ChrY:2133003..56884424 [GRCh38]
ChrY:1167123..59030571 [GRCh37]
ChrY:1137123..57439959 [NCBI36]
ChrY:Yp11.2-q12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:16311571-57190586)x0 copy number loss See cases [RCV000139941] ChrY:16311571..57190586 [GRCh38]
ChrY:18423451..59336737 [GRCh37]
ChrY:16932845..57746125 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yp11.31-q12(chrY:378139-57181562)x1 copy number loss See cases [RCV000141411] ChrY:378139..57181562 [GRCh38]
ChrY:288874..59327713 [GRCh37]
ChrY:258874..57737101 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh38/hg38 Yq11.223(chrY:21891698-21922809)x3 copy number gain See cases [RCV000140574] ChrY:21891698..21922809 [GRCh38]
ChrY:24037845..24068956 [GRCh37]
ChrY:22447233..22478344 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:21880447-21922809)x1 copy number loss See cases [RCV000140583] ChrY:21880447..21922809 [GRCh38]
ChrY:24026594..24068956 [GRCh37]
ChrY:22435982..22478344 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:21880447-21922809)x3 copy number gain See cases [RCV000140584] ChrY:21880447..21922809 [GRCh38]
ChrY:24026594..24068956 [GRCh37]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:21891757-21922868)x3 copy number gain See cases [RCV000140591] ChrY:21891757..21922868 [GRCh38]
ChrY:24037904..24069015 [GRCh37]
ChrY:22447292..22478403 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.21-12(chrY:10624004-57190586)x0 copy number loss See cases [RCV000141809] ChrY:10624004..57190586 [GRCh38]
ChrY:13134518..59336737 [GRCh37]
ChrY:11244518..57746125 [NCBI36]
ChrY:Yq11.21-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12702930-26653790)x1 copy number gain See cases [RCV000142197] ChrY:12702930..26653790 [GRCh38]
ChrY:14814859..28799937 [GRCh37]
ChrY:13324253..27209325 [NCBI36]
ChrY:Yq11.221-12		 pathogenic
GRCh38/hg38 Yq11.221-12(chrY:12881571-26653790)x1 copy number gain See cases [RCV000142059] ChrY:12881571..26653790 [GRCh38]
ChrY:14993486..28799937 [GRCh37]
ChrY:13502880..27209325 [NCBI36]
ChrY:Yq11.221-12		 likely benign
GRCh38/hg38 Yq11.223(chrY:21568533-22490845)x0 copy number loss See cases [RCV000142954] ChrY:21568533..22490845 [GRCh38]
ChrY:23730419..24636992 [GRCh37]
ChrY:22139807..23046380 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.223(chrY:21034147-22358529)x2 copy number gain See cases [RCV000142662] ChrY:21034147..22358529 [GRCh38]
ChrY:23196033..24504676 [GRCh37]
ChrY:21605421..22914064 [NCBI36]
ChrY:Yq11.223		 uncertain significance
GRCh38/hg38 Yq11.222-11.223(chrY:18664321-22358529)x2 copy number gain See cases [RCV000142769] ChrY:18664321..22358529 [GRCh38]
ChrY:20826207..24504676 [GRCh37]
ChrY:19285595..22914064 [NCBI36]
ChrY:Yq11.222-11.223		 uncertain significance
GRCh38/hg38 Yq11.21-12(chrY:11680193-26653790)x4 copy number gain See cases [RCV000143421] ChrY:11680193..26653790 [GRCh38]
ChrY:13800899..28799937 [GRCh37]
ChrY:12310899..27209325 [NCBI36]
ChrY:Yq11.21-12		 likely pathogenic
GRCh38/hg38 Yq11.222-12(chrY:18891467-57208726)x0 copy number loss See cases [RCV000148059] ChrY:18891467..57208726 [GRCh38]
ChrY:21053353..59354877 [GRCh37]
ChrY:19512741..57764265 [NCBI36]
ChrY:Yq11.222-12		 pathogenic
GRCh37/hg19 Yp11.31-q12(chrY:2654852-59031480)x2 copy number gain See cases [RCV000148271] ChrY:2654852..59031480 [GRCh37]
ChrY:2714852..57440868 [NCBI36]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2 copy number gain See cases [RCV000240246] ChrY:20297..59358845 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:10701-59349277)x1 copy number loss See cases [RCV000240213] ChrY:10701..59349277 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:100002-59353228)x2 copy number gain See cases [RCV000239812] ChrY:100002..59353228 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2 copy number gain See cases [RCV000239787] ChrY:21267..59349649 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:21267-59337042)x2 copy number gain See cases [RCV000239958] ChrY:21267..59337042 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16188682-59349649)x0 copy number loss See cases [RCV000240102] ChrY:16188682..59349649 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2 copy number gain See cases [RCV000240301] ChrY:126426..59349649 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2 copy number gain See cases [RCV000240305] ChrY:126426..59353228 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:15415024-59349591)x0 copy number loss See cases [RCV000446382] ChrY:15415024..59349591 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.222-12(chrY:20805226-59336998)x0 copy number loss See cases [RCV000447602] ChrY:20805226..59336998 [GRCh37]
ChrY:Yq11.222-12		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:20297-59356174) copy number loss See cases [RCV000448395] ChrY:20297..59356174 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20359545-27839018)x2 copy number gain See cases [RCV000448226] ChrY:20359545..27839018 [GRCh37]
ChrY:Yq11.222-11.23		 likely benign
GRCh37/hg19 Yp11.32-q12(chrY:1684070-36905226)x3 copy number gain See cases [RCV000510438] ChrY:1684070..36905226 [GRCh37]
ChrY:Yp11.32-q12		 uncertain significance
GRCh37/hg19 Yq11.21-12(chrY:13871147-59336737)x0 copy number loss See cases [RCV000510252] ChrY:13871147..59336737 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x2 copy number gain See cases [RCV000510700] ChrY:2650141..28799937 [GRCh37]
ChrY:Yp11.31-q11.23		 uncertain significance
GRCh37/hg19 Yp11.31-q11.23(chrY:2650141-28799937)x0 copy number loss See cases [RCV000511418] ChrY:2650141..28799937 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28451874)x1 copy number loss See cases [RCV000511281] ChrY:168546..28451874 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:19574920-28423925)x2 copy number gain not provided [RCV000684441] ChrY:19574920..28423925 [GRCh37]
ChrY:Yq11.221-11.23		 likely benign
GRCh37/hg19 Yp11.31-q11.223(chrY:2650140-24070172)x2 copy number gain not provided [RCV000684444] ChrY:2650140..24070172 [GRCh37]
ChrY:Yp11.31-q11.223		 pathogenic
GRCh37/hg19 Yq11.21-12(chrY:13410538-59032808)x0 copy number loss not provided [RCV000684445] ChrY:13410538..59032808 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yq11.222-11.223(chrY:20618887-24820716)x0 copy number loss not provided [RCV000684439] ChrY:20618887..24820716 [GRCh37]
ChrY:Yq11.222-11.223		 likely benign
GRCh37/hg19 Yp11.31-q11.23(chrY:2655180-28727063)x0 copy number gain not provided [RCV000753972] ChrY:2655180..28727063 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
GRCh37/hg19 Yq11.223(chrY:24007925-24394570)x3 copy number gain not provided [RCV000754060] ChrY:24007925..24394570 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yp11.31-q12(chrY:2655180-58883690)x2 copy number gain not provided [RCV000753973] ChrY:2655180..58883690 [GRCh37]
ChrY:Yp11.31-q12		 pathogenic
GRCh37/hg19 Yq11.1-12(chrY:13132024-28817458)x0 copy number loss not provided [RCV000754010] ChrY:13132024..28817458 [GRCh37]
ChrY:Yq11.1-12		 pathogenic
GRCh37/hg19 Yq11.223(chrY:23655662-24751625)x0 copy number loss not provided [RCV000754055] ChrY:23655662..24751625 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0 copy number loss Male infertility [RCV001090085] ChrY:15427283..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yp11.31-q11.223(chrY:2650278-24445033) copy number gain not provided [RCV000767654] ChrY:2650278..24445033 [GRCh37]
ChrY:Yp11.31-q11.223		 pathogenic
GRCh37/hg19 Yq11.222-12(chrY:21035530-59336737)x0 copy number loss not provided [RCV000845979] ChrY:21035530..59336737 [GRCh37]
ChrY:Yq11.222-12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:15190336-59343488)x0 copy number loss not provided [RCV000847612] ChrY:15190336..59343488 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0 copy number loss Male infertility [RCV001090083] ChrY:21719615..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0 copy number loss Male infertility [RCV001090076] ChrY:18546605..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0 copy number loss Male infertility [RCV001090077] ChrY:20111978..28423925 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0 copy number loss Male infertility [RCV001090078] ChrY:14495040..24070172 [GRCh37]
ChrY:Yq11.21-11.223		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:21039792-28799937)x0 copy number loss not provided [RCV000847006] ChrY:21039792..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16053146-59343488)x2 copy number gain not provided [RCV000848067] ChrY:16053146..59343488 [GRCh37]
ChrY:Yq11.221-12		 pathogenic
GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0 copy number loss Male infertility [RCV001090072] ChrY:23887108..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 pathogenic
GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0 copy number loss Male infertility [RCV001090084] ChrY:13800703..28799937 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yq11.21-12(chrY:14370813-59373566)x0 copy number loss not provided [RCV002473934] ChrY:14370813..59373566 [GRCh37]
ChrY:Yq11.21-12		 pathogenic
GRCh37/hg19 Yq11.221-11.23(chrY:19567361-28458663)x2 copy number gain not provided [RCV001007396] ChrY:19567361..28458663 [GRCh37]
ChrY:Yq11.221-11.23		 likely benign
GRCh37/hg19 Yq11.223(chrY:24007925-24891486)x0 copy number loss See cases [RCV001194579] ChrY:24007925..24891486 [GRCh37]
ChrY:Yq11.223		 likely pathogenic
GRCh37/hg19 Yp11.32-q11.23(chrY:168546-28799937)x2 copy number gain not provided [RCV001007377] ChrY:168546..28799937 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0 copy number loss Male infertility [RCV001090069] ChrY:20608554..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654) copy number loss not provided [RCV002221453] ChrY:2650424..28799654 [GRCh37]
ChrY:Yp11.31-q11.23		 pathogenic
GRCh37/hg19 Yq11.21-11.23(chrY:13905421-28799654) copy number loss not provided [RCV002221454] ChrY:13905421..28799654 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yp11.32-q12(chrY:1-59373566) copy number gain Global developmental delay [RCV002280747] ChrY:1..59373566 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:16203971-59336737)x0 copy number loss not provided [RCV002474928] ChrY:16203971..59336737 [GRCh37]
ChrY:Yq11.221-12		 uncertain significance
GRCh37/hg19 Yq11.221-11.23(chrY:18921311-28799937)x0 copy number loss not provided [RCV003482939] ChrY:18921311..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:21035824-28799654)x0 copy number loss not provided [RCV004442771] ChrY:21035824..28799654 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:975
Count of miRNA genes:572
Interacting mature miRNAs:622
Transcripts:ENST00000382653, ENST00000382677, ENST00000382680, ENST00000418956
Prediction methods:Miranda, Pita, 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
sY627  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS
G65850  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS
RBMY  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS
RH38683  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS
DYS41  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapYq11.223UniSTS
Stanford-G3 RH MapY492.0UniSTS


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
nervous system
renal system
reproductive system
respiratory system
sensory system
4 24 9 11 25 17 22 4 7 2 8 43 32 21 13 845 17 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001006120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054328303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP086569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000382653   ⟹   ENSP00000372099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY21,880,076 - 21,894,501 (-)Ensembl
Ensembl Acc Id: ENST00000382680   ⟹   ENSP00000372127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY21,880,076 - 21,894,526 (-)Ensembl
Ensembl Acc Id: ENST00000418956   ⟹   ENSP00000399181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY21,880,308 - 21,894,439 (-)Ensembl
RefSeq Acc Id: NM_001006120   ⟹   NP_001006120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,880,076 - 21,894,526 (-)NCBI
GRCh37Y24,026,223 - 24,040,633 (-)RGD
Build 36Y22,435,611 - 22,450,021 (-)NCBI Archive
CeleraY8,917,868 - 8,932,267 (-)RGD
HuRefY17,242,807 - 17,254,657 (+)RGD
T2T-CHM13v2.0Y22,715,593 - 22,730,041 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320949   ⟹   NP_001307878
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,880,076 - 21,894,526 (-)NCBI
T2T-CHM13v2.0Y22,715,593 - 22,730,041 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320950   ⟹   NP_001307879
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,880,076 - 21,894,526 (-)NCBI
T2T-CHM13v2.0Y22,715,593 - 22,730,041 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531486   ⟹   XP_011529788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,880,076 - 21,900,746 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531487   ⟹   XP_011529789
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,868,431 - 21,894,526 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531488   ⟹   XP_011529790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,878,658 - 21,894,526 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531489   ⟹   XP_011529791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,880,076 - 21,894,526 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442737   ⟹   XP_047298693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,880,076 - 21,891,914 (-)NCBI
RefSeq Acc Id: XM_054328300   ⟹   XP_054184275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,715,593 - 22,736,261 (-)NCBI
RefSeq Acc Id: XM_054328301   ⟹   XP_054184276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,703,948 - 22,730,041 (-)NCBI
RefSeq Acc Id: XM_054328302   ⟹   XP_054184277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,715,593 - 22,730,041 (-)NCBI
RefSeq Acc Id: XM_054328303   ⟹   XP_054184278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,715,593 - 22,727,431 (-)NCBI
RefSeq Acc Id: NP_001006120   ⟸   NM_001006120
- Peptide Label: isoform 1
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot),   B7ZMD9 (UniProtKB/Swiss-Prot),   P0C7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529789   ⟸   XM_011531487
- Peptide Label: isoform X2
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529790   ⟸   XM_011531488
- Peptide Label: isoform X3
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529788   ⟸   XM_011531486
- Peptide Label: isoform X1
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot),   B7ZMD9 (UniProtKB/Swiss-Prot),   P0C7P1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529791   ⟸   XM_011531489
- Peptide Label: isoform X4
- UniProtKB: B7ZMC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307878   ⟸   NM_001320949
- Peptide Label: isoform 2
- UniProtKB: B7ZMC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307879   ⟸   NM_001320950
- Peptide Label: isoform 3
- UniProtKB: B7ZMC0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000399181   ⟸   ENST00000418956
Ensembl Acc Id: ENSP00000372127   ⟸   ENST00000382680
Ensembl Acc Id: ENSP00000372099   ⟸   ENST00000382653
RefSeq Acc Id: XP_047298693   ⟸   XM_047442737
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054184276   ⟸   XM_054328301
- Peptide Label: isoform X6
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054184275   ⟸   XM_054328300
- Peptide Label: isoform X1
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot),   Q8NHR0 (UniProtKB/Swiss-Prot),   Q86VU6 (UniProtKB/Swiss-Prot),   Q6NSB5 (UniProtKB/Swiss-Prot),   Q15414 (UniProtKB/Swiss-Prot),   Q15377 (UniProtKB/Swiss-Prot),   Q15376 (UniProtKB/Swiss-Prot),   P0DJD3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054184277   ⟸   XM_054328302
- Peptide Label: isoform X7
- UniProtKB: B7ZMC0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184278   ⟸   XM_054328303
- Peptide Label: isoform X8
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P0C7P1-F1-model_v2 AlphaFold P0C7P1 1-496 view protein structure
AF-P0DJD3-F1-model_v2 AlphaFold P0DJD3 1-496 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC RBMY1D COSMIC
Ensembl Genes ENSG00000234414 Ensembl, UniProtKB/TrEMBL
  ENSG00000242389 UniProtKB/TrEMBL
  ENSG00000242875 UniProtKB/TrEMBL
  ENSG00000244395 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358944.8 UniProtKB/TrEMBL
  ENST00000361046.4 UniProtKB/TrEMBL
  ENST00000382639.7 UniProtKB/TrEMBL
  ENST00000382653.6 UniProtKB/TrEMBL
  ENST00000382680 ENTREZGENE
  ENST00000382680.5 UniProtKB/Swiss-Prot
  ENST00000418956 ENTREZGENE
  ENST00000418956.2 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000234414 GTEx
  ENSG00000242389 GTEx
  ENSG00000242875 GTEx
  ENSG00000244395 GTEx
HGNC ID HGNC:23915 ENTREZGENE
Human Proteome Map RBMY1D Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM1CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:378949 UniProtKB/Swiss-Prot
NCBI Gene 378949 ENTREZGENE
PANTHER RNA-BINDING MOTIF PROTEIN, Y CHROMOSOME, FAMILY 1 MEMBER A1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSFORMER-2 SEX-DETERMINING PROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RBM1CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134863616 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZMC0 ENTREZGENE, UniProtKB/TrEMBL
  B7ZMD9 ENTREZGENE
  F2Z2U1_HUMAN UniProtKB/TrEMBL
  P0C7P1 ENTREZGENE
  P0DJD3 ENTREZGENE
  P0DJD4 ENTREZGENE
  Q15376 ENTREZGENE
  Q15377 ENTREZGENE
  Q15414 ENTREZGENE
  Q6NSB5 ENTREZGENE
  Q86VU6 ENTREZGENE
  Q8NHR0 ENTREZGENE
  RBY1D_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7ZMD9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-06 RBMY1D  RNA binding motif protein Y-linked family 1 member D  RBMY1D  RNA binding motif protein, Y-linked, family 1, member D  Symbol and/or name change 5135510 APPROVED