RBMY1E (RNA binding motif protein Y-linked family 1 member E) - Rat Genome Database

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Gene: RBMY1E (RNA binding motif protein Y-linked family 1 member E) Homo sapiens
Analyze
Symbol: RBMY1E
Name: RNA binding motif protein Y-linked family 1 member E
RGD ID: 1342986
HGNC Page HGNC:23916
Description: Enables RNA binding activity and identical protein binding activity. Involved in regulation of RNA splicing. Located in nucleolus and nucleoplasm. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: RNA binding motif protein, Y-linked, family 1, member E; RNA-binding motif protein, Y chromosome, family 1 member E
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y21,902,177 - 21,918,032 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY21,903,618 - 21,918,042 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y24,049,769 - 24,064,179 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y22,459,153 - 22,473,562 (-)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-CHM13v2.0Y22,737,692 - 22,753,535 (-)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
temozolomide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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:32296183  


Genomics

Comparative Map Data
RBMY1E
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y21,902,177 - 21,918,032 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY21,903,618 - 21,918,042 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y24,049,769 - 24,064,179 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y22,459,153 - 22,473,562 (-)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-CHM13v2.0Y22,737,692 - 22,753,535 (-)NCBIT2T-CHM13v2.0
Rbmyf9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39Y3,771,673 - 3,783,271 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblY3,771,673 - 3,783,267 (+)EnsemblGRCm39 Ensembl
GRCm38Y3,771,673 - 3,783,271 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblY3,771,673 - 3,783,267 (+)EnsemblGRCm38mm10GRCm38
MGSCv37Y2,387,275 - 2,398,856 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36Y2,387,258 - 2,398,856 (+)NCBIMGSCv36mm8
Cytogenetic MapYpterNCBI


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 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 Yq11.221-12(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 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 Yq11.221-11.223(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 Yq11.222-12(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: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 Yq11.21-12(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: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 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 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 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 Yp11.32-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 Yq11.223(chrY:24007925-24394570)x3 copy number gain not provided [RCV000754060] ChrY:24007925..24394570 [GRCh37]
ChrY:Yq11.223		 benign
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
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 Yq11.223(chrY:23655662-24751625)x0 copy number loss not provided [RCV000754055] ChrY:23655662..24751625 [GRCh37]
ChrY:Yq11.223		 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
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 Yq11.222-11.23(chrY:21719615-28799937)x0 copy number loss Male infertility [RCV001090083] ChrY:21719615..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.222-12(chrY:21035530-59336737)x0 copy number loss not provided [RCV000845979] ChrY:21035530..59336737 [GRCh37]
ChrY:Yq11.222-12		 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 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 Yq11.21-11.23(chrY:13800703-28799937)x0 copy number loss Male infertility [RCV001090084] ChrY:13800703..28799937 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
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 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 Yq11.221-11.23(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 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 Yq11.21-11.223(chrY:14495040-24070172)x0 copy number loss Male infertility [RCV001090078] ChrY:14495040..24070172 [GRCh37]
ChrY:Yq11.21-11.223		 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 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 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 Yq11.21-12(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: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
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 Yq11.222-11.223(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
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 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:20297-59356174) copy number loss See cases [RCV000448395] ChrY:20297..59356174 [GRCh37]
ChrY:Yp11.32-q12		 pathogenic
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 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 Yp11.31-q11.223(chrY:2650278-24445033) copy number gain not provided [RCV000767654] ChrY:2650278..24445033 [GRCh37]
ChrY:Yp11.31-q11.223		 pathogenic
GRCh37/hg19 Yq11.221-12(chrY:15190336-59343488)x0 copy number loss not provided [RCV000847612] ChrY:15190336..59343488 [GRCh37]
ChrY:Yq11.221-12		 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 Yp11.32-q11.23(chrY:168546-28799937)x2 copy number gain not provided [RCV001007377] ChrY:168546..28799937 [GRCh37]
ChrY:Yp11.32-q11.23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:812
Count of miRNA genes:402
Interacting mature miRNAs:424
Transcripts:ENST00000358944, ENST00000382658, ENST00000382659, ENST00000382673
Prediction methods:Microtar, 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
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 endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system entire extraembryonic component
High
Medium
Low 1 6 6 2 6 2 1 2 5
Below cutoff 3 12 12 3 12 3 3 1 6 11 10 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000358944   ⟹   ENSP00000351823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY21,903,618 - 21,918,042 (-)Ensembl
RefSeq Acc Id: ENST00000382658   ⟹   ENSP00000372104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY21,903,620 - 21,918,032 (-)Ensembl
RefSeq Acc Id: ENST00000382659   ⟹   ENSP00000372105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY21,903,622 - 21,918,032 (-)Ensembl
RefSeq Acc Id: NM_001006118   ⟹   NP_001006118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,903,622 - 21,918,032 (-)NCBI
GRCh37Y24,049,765 - 24,064,174 (-)RGD
Build 36Y22,459,153 - 22,473,562 (-)NCBI Archive
CeleraY8,917,868 - 8,932,267 (-)RGD
HuRefY17,242,807 - 17,254,657 (+)RGD
T2T-CHM13v2.0Y22,739,137 - 22,753,535 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531493   ⟹   XP_011529795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,903,622 - 21,918,032 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531494   ⟹   XP_011529796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,902,177 - 21,918,032 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531495   ⟹   XP_011529797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,903,622 - 21,918,032 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442738   ⟹   XP_047298694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y21,903,622 - 21,915,456 (-)NCBI
RefSeq Acc Id: XM_054328304   ⟹   XP_054184279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,739,137 - 22,753,535 (-)NCBI
RefSeq Acc Id: XM_054328305   ⟹   XP_054184280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,737,692 - 22,753,535 (-)NCBI
RefSeq Acc Id: XM_054328306   ⟹   XP_054184281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,739,137 - 22,753,535 (-)NCBI
RefSeq Acc Id: XM_054328307   ⟹   XP_054184282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,739,137 - 22,750,971 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001006118   ⟸   NM_001006118
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot),   A6NEG9 (UniProtKB/Swiss-Prot),   A6NCW6 (UniProtKB/Swiss-Prot),   A6NKQ5 (UniProtKB/Swiss-Prot),   A6NEQ0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529796   ⟸   XM_011531494
- Peptide Label: isoform X2
- UniProtKB: P0DJD4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529797   ⟸   XM_011531495
- Peptide Label: isoform X3
- UniProtKB: B7ZMC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529795   ⟸   XM_011531493
- Peptide Label: isoform X1
- UniProtKB: J3KPK3 (UniProtKB/TrEMBL),   B7ZMC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000372105   ⟸   ENST00000382659
RefSeq Acc Id: ENSP00000372104   ⟸   ENST00000382658
RefSeq Acc Id: ENSP00000351823   ⟸   ENST00000358944
RefSeq Acc Id: XP_047298694   ⟸   XM_047442738
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054184280   ⟸   XM_054328305
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054184281   ⟸   XM_054328306
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054184279   ⟸   XM_054328304
- Peptide Label: isoform X5
- UniProtKB: J3KPK3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184282   ⟸   XM_054328307
- Peptide Label: isoform X8
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NEQ0-F1-model_v2 AlphaFold A6NEQ0 1-496 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC RBMY1E COSMIC
Ensembl Genes ENSG00000234414 UniProtKB/TrEMBL
  ENSG00000242389 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000242875 UniProtKB/TrEMBL
  ENSG00000244395 UniProtKB/TrEMBL
Ensembl Transcript ENST00000358944.8 UniProtKB/TrEMBL
  ENST00000361046.4 UniProtKB/TrEMBL
  ENST00000382639.7 UniProtKB/TrEMBL
  ENST00000382653.6 UniProtKB/TrEMBL
  ENST00000382658 ENTREZGENE
  ENST00000382658.5 UniProtKB/TrEMBL
  ENST00000382659 ENTREZGENE
  ENST00000382659.7 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:23916 ENTREZGENE
Human Proteome Map RBMY1E Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM1CTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:378950 UniProtKB/Swiss-Prot
NCBI Gene 378950 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 PA134905273 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NCW6 ENTREZGENE
  A6NEG9 ENTREZGENE
  A6NEQ0 ENTREZGENE
  A6NKQ5 ENTREZGENE
  B7ZMC0 ENTREZGENE, UniProtKB/TrEMBL
  F2Z2U1_HUMAN UniProtKB/TrEMBL
  J3KPK3 ENTREZGENE, UniProtKB/TrEMBL
  P0DJD4 ENTREZGENE
  RBY1E_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A6NCW6 UniProtKB/Swiss-Prot
  A6NEG9 UniProtKB/Swiss-Prot
  A6NKQ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-06 RBMY1E  RNA binding motif protein Y-linked family 1 member E  RBMY1E  RNA binding motif protein, Y-linked, family 1, member E  Symbol and/or name change 5135510 APPROVED