RBMY1J (RNA binding motif protein Y-linked family 1 member J) - Rat Genome Database

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Gene: RBMY1J (RNA binding motif protein Y-linked family 1 member J) Homo sapiens
Analyze
Symbol: RBMY1J
Name: RNA binding motif protein Y-linked family 1 member J
RGD ID: 1345023
HGNC Page HGNC:23917
Description: Enables identical protein binding activity. Predicted to be involved in positive regulation of mRNA splicing, via spliceosome. Located in nucleolus and nucleoplasm.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: RBMY1F; RNA binding motif protein, Y-linked, family 1, member J; RNA-binding motif protein, Y chromosome, family 1 member F/J; y chromosome RNA recognition motif 2
RGD Orthologs
Mouse
Rat
Pig
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RBMY2NP  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y22,403,410 - 22,424,870 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY22,403,410 - 22,417,881 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblY22,168,542 - 22,182,982 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y24,549,557 - 24,564,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y22,959,011 - 22,973,416 (+)NCBINCBI36Build 36hg18NCBI36
Build 34Y22,887,747 - 22,902,153NCBI
CeleraY8,917,868 - 8,932,267 (-)NCBICelera
Cytogenetic MapYq11.223NCBI
HuRefY17,710,494 - 17,726,230 (+)NCBIHuRef
T2T-CHM13v2.0Y22,997,071 - 23,018,537 (-)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
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)
spliceosomal complex  (IBA,IEA)

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:21516116   PMID:21873635   PMID:25416956   PMID:25910212   PMID:26871637   PMID:27107014  
PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
RBMY1J
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38Y22,403,410 - 22,424,870 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblY22,403,410 - 22,417,881 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p14 EnsemblY22,168,542 - 22,182,982 (-)EnsemblGRCh38hg38GRCh38
GRCh37Y24,549,557 - 24,564,028 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36Y22,959,011 - 22,973,416 (+)NCBINCBI36Build 36hg18NCBI36
Build 34Y22,887,747 - 22,902,153NCBI
CeleraY8,917,868 - 8,932,267 (-)NCBICelera
Cytogenetic MapYq11.223NCBI
HuRefY17,710,494 - 17,726,230 (+)NCBIHuRef
T2T-CHM13v2.0Y22,997,071 - 23,018,537 (-)NCBIT2T-CHM13v2.0
Rbmyf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39Y2,862,139 - 2,873,496 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblY2,830,699 - 2,873,492 (+)EnsemblGRCm39 Ensembl
GRCm38Y2,862,139 - 2,873,496 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblY2,830,699 - 2,873,492 (+)EnsemblGRCm38mm10GRCm38
MGSCv37Y2,118,066 - 2,129,203 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36Y2,118,049 - 2,129,406 (+)NCBIMGSCv36mm8
Cytogenetic MapYpterNCBI
Rbmy1j
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8Y438,897 - 449,195 (+)NCBIGRCr8
mRatBN7.2Y415,160 - 425,460 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblY415,178 - 425,426 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0Y380,337 - 390,669 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblY380,382 - 390,667 (+)EnsemblRnor6.0rn6Rnor6.0
Cytogenetic MapYq11NCBI
LOC110257929
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1Y41,171,519 - 41,182,903 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1


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
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-q11.23(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 Yq11.223(chrY:21927773-22494369)x0 copy number loss See cases [RCV000135315] ChrY:21927773..22494369 [GRCh38]
ChrY:24073920..24640516 [GRCh37]
ChrY:22483308..23049904 [NCBI36]
ChrY:Yq11.223		 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 Yq11.223-11.23(chrY:21927773-26133012)x3 copy number gain See cases [RCV000135297] ChrY:21927773..26133012 [GRCh38]
ChrY:24073920..28279159 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh38/hg38 Yq11.223-11.23(chrY:21927773-26133012)x0 copy number loss See cases [RCV000135298] ChrY:21927773..26133012 [GRCh38]
ChrY:24073920..28279159 [GRCh37]
ChrY:22483308..26688547 [NCBI36]
ChrY:Yq11.223-11.23		 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 Yq11.221-12(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 Yq11.223(chrY:21949807-22728213)x0 copy number loss See cases [RCV000138087] ChrY:21949807..22728213 [GRCh38]
ChrY:24095954..24874360 [GRCh37]
ChrY:22505342..23283748 [NCBI36]
ChrY:Yq11.223		 likely benign
GRCh38/hg38 Yq11.223(chrY:21949807-22737927)x0 copy number loss See cases [RCV000137772] ChrY:21949807..22737927 [GRCh38]
ChrY:24095954..24884074 [GRCh37]
ChrY:22505342..23293462 [NCBI36]
ChrY:Yq11.223		 likely benign
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 Yq11.223(chrY:22070733-22624738)x0 copy number loss See cases [RCV000139939] ChrY:22070733..22624738 [GRCh38]
ChrY:24216880..24770885 [GRCh37]
ChrY:22626268..23180273 [NCBI36]
ChrY:Yq11.223		 uncertain significance
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:22400311-22417466)x3 copy number gain See cases [RCV000140586] ChrY:22400311..22417466 [GRCh38]
ChrY:24546458..24563613 [GRCh37]
ChrY:22955846..22973001 [NCBI36]
ChrY:Yq11.223		 benign
GRCh38/hg38 Yq11.223(chrY:22098428-22728213)x0 copy number loss See cases [RCV000140748] ChrY:22098428..22728213 [GRCh38]
ChrY:24244575..24874360 [GRCh37]
ChrY:22653963..23283748 [NCBI36]
ChrY:Yq11.223		 uncertain significance
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 Yq11.21-12(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 Yq11.223-12(chrY:24108372-59358798)x0 copy number loss See cases [RCV000447015] ChrY:24108372..59358798 [GRCh37]
ChrY:Yq11.223-12		 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 Yq11.223-12(chrY:24073794-59336737)x0 copy number loss See cases [RCV000512099] ChrY:24073794..59336737 [GRCh37]
ChrY:Yq11.223-12		 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 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 Yq11.223-11.23(chrY:24073794-28799937)x0 copy number loss not provided [RCV000684440] ChrY:24073794..28799937 [GRCh37]
ChrY:Yq11.223-11.23		 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 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 Yq11.223-11.23(chrY:24500602-28727063)x3 copy number gain not provided [RCV000754073] ChrY:24500602..28727063 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24522363-28742675)x3 copy number gain not provided [RCV000754077] ChrY:24522363..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
Single allele duplication Autism [RCV000754378] ChrY:1..57227415 [GRCh38]
ChrY:Yp11.32-q12		 likely pathogenic
GRCh37/hg19 Yq11.223(chrY:24221363-24813163)x0 copy number loss not provided [RCV000754063] ChrY:24221363..24813163 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24461432-28701583)x3 copy number gain not provided [RCV000754071] ChrY:24461432..28701583 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24461432-28742675)x3 copy number gain not provided [RCV000754072] ChrY:24461432..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 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:24210716-24891486)x0 copy number loss not provided [RCV000754062] ChrY:24210716..24891486 [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 Yq11.223-11.23(chrY:24500602-28742675)x3 copy number gain not provided [RCV000754074] ChrY:24500602..28742675 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24522363-28727063)x3 copy number gain not provided [RCV000754076] ChrY:24522363..28727063 [GRCh37]
ChrY:Yq11.223-11.23		 benign
GRCh37/hg19 Yq11.223(chrY:23655662-24751625)x0 copy number loss not provided [RCV000754055] ChrY:23655662..24751625 [GRCh37]
ChrY:Yq11.223		 benign
GRCh37/hg19 Yq11.223-11.23(chrY:24522363-28701583)x3 copy number gain not provided [RCV000754075] ChrY:24522363..28701583 [GRCh37]
ChrY:Yq11.223-11.23		 benign
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 Yq11.221-12(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:20111978-28423925)x0 copy number loss Male infertility [RCV001090077] ChrY:20111978..28423925 [GRCh37]
ChrY:Yq11.222-11.23		 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:15427283-28799937)x0 copy number loss Male infertility [RCV001090085] ChrY:15427283..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 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 Yq11.222-11.23(chrY:21039792-28799937)x0 copy number loss not provided [RCV000847006] ChrY:21039792..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.223(chrY:24007925-24891486)x0 copy number loss See cases [RCV001194579] ChrY:24007925..24891486 [GRCh37]
ChrY:Yq11.223		 likely 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 Yq11.221-11.23(chrY:18546605-28799937)x0 copy number loss Male infertility [RCV001090076] ChrY:18546605..28799937 [GRCh37]
ChrY:Yq11.221-11.23		 pathogenic
GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0 copy number loss Male infertility [RCV001090084] ChrY:13800703..28799937 [GRCh37]
ChrY:Yq11.21-11.23		 pathogenic
GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0 copy number loss Male infertility [RCV001090069] ChrY:20608554..28799937 [GRCh37]
ChrY:Yq11.222-11.23		 pathogenic
GRCh37/hg19 Yq11.223(chrY:24137684-25844774)x0 copy number loss not provided [RCV002473437] ChrY:24137684..25844774 [GRCh37]
ChrY:Yq11.223		 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:19567361-28458663)x2 copy number gain not provided [RCV001007396] ChrY:19567361..28458663 [GRCh37]
ChrY:Yq11.221-11.23		 likely benign
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
GRCh38/hg38 Yq11.223(chrY:22422160-22490799)x3 copy number gain See cases [RCV000140571] ChrY:22422160..22490799 [GRCh38]
ChrY:24568307..24636946 [GRCh37]
ChrY:22977695..23046334 [NCBI36]
ChrY:Yq11.223		 benign
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 Yq11.223(chrY:24103932-24892425)x0 copy number loss not provided [RCV002475741] ChrY:24103932..24892425 [GRCh37]
ChrY:Yq11.223		 uncertain significance
GRCh38/hg38 Yq11.223(chrY:22726855-22729164) copy number gain Pregnancy loss, recurrent, susceptibility to, 1 [RCV003335988] ChrY:22726855..22729164 [GRCh38]
ChrY:Yq11.223		 uncertain significance
GRCh37/hg19 Yq11.223(chrY:24073795-25844774)x2 copy number gain not provided [RCV003483997] ChrY:24073795..25844774 [GRCh37]
ChrY:Yq11.223		 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:506
Count of miRNA genes:252
Interacting mature miRNAs:259
Transcripts:ENST00000250831, ENST00000414629, ENST00000445779, ENST00000470460
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
G65856  
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 circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium
Low 86
Below cutoff 12 6 10 9 3 2 11 4 44 6 540 79 7 4 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000250831   ⟹   ENSP00000250831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY22,403,410 - 22,417,881 (+)Ensembl
RefSeq Acc Id: ENST00000303766   ⟹   ENSP00000307155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY22,168,542 - 22,182,923 (-)Ensembl
RefSeq Acc Id: ENST00000454978   ⟹   ENSP00000406005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY22,168,542 - 22,182,982 (-)Ensembl
RefSeq Acc Id: ENST00000470460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY22,403,461 - 22,417,881 (+)Ensembl
RefSeq Acc Id: ENST00000481858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblY22,168,542 - 22,182,957 (-)Ensembl
RefSeq Acc Id: NM_001006117   ⟹   NP_001006117
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y22,403,410 - 22,417,881 (+)NCBI
GRCh37Y24,549,623 - 24,564,028 (+)RGD
Build 36Y22,959,011 - 22,973,416 (+)NCBI Archive
HuRefY17,710,494 - 17,726,230 (+)NCBI
T2T-CHM13v2.0Y23,004,065 - 23,018,537 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531500   ⟹   XP_011529802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y22,403,410 - 22,417,881 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011531503   ⟹   XP_011529805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y22,406,037 - 22,417,881 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047442739   ⟹   XP_047298695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38Y22,403,410 - 22,424,870 (+)NCBI
RefSeq Acc Id: XM_054328308   ⟹   XP_054184283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y23,004,065 - 23,018,452 (-)NCBI
RefSeq Acc Id: XM_054328309   ⟹   XP_054184284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y23,004,065 - 23,018,452 (-)NCBI
RefSeq Acc Id: XM_054328310   ⟹   XP_054184285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y23,004,065 - 23,015,909 (-)NCBI
RefSeq Acc Id: XM_054328311   ⟹   XP_054184286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0Y22,997,071 - 23,018,452 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001006117   ⟸   NM_001006117
- UniProtKB: B2R916 (UniProtKB/Swiss-Prot),   Q15415 (UniProtKB/Swiss-Prot),   B2RUT9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529802   ⟸   XM_011531500
- Peptide Label: isoform X1
- UniProtKB: J3KQ82 (UniProtKB/TrEMBL),   B7ZMC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529805   ⟸   XM_011531503
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000250831   ⟸   ENST00000250831
RefSeq Acc Id: XP_047298695   ⟸   XM_047442739
- Peptide Label: isoform X3
RefSeq Acc Id: ENSP00000307155   ⟸   ENST00000303766
RefSeq Acc Id: ENSP00000406005   ⟸   ENST00000454978
RefSeq Acc Id: XP_054184286   ⟸   XM_054328311
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054184284   ⟸   XM_054328309
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054184283   ⟸   XM_054328308
- Peptide Label: isoform X4
- UniProtKB: J3KQ82 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054184285   ⟸   XM_054328310
- Peptide Label: isoform X6
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15415-F1-model_v2 AlphaFold Q15415 1-496 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23917 AgrOrtholog
COSMIC RBMY1J COSMIC
Ensembl Genes ENSG00000169800 Ensembl, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000226941 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000250831 ENTREZGENE
  ENST00000250831.6 UniProtKB/Swiss-Prot
  ENST00000303766.12 UniProtKB/Swiss-Prot
  ENST00000454978.2 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169800 GTEx
  ENSG00000226941 GTEx
HGNC ID HGNC:23917 ENTREZGENE
Human Proteome Map RBMY1J 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:159163 UniProtKB/Swiss-Prot
  hsa:378951 UniProtKB/Swiss-Prot
NCBI Gene 378951 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 PA134946298 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R916 ENTREZGENE
  B2RUT9 ENTREZGENE, UniProtKB/TrEMBL
  B7ZMC0 ENTREZGENE, UniProtKB/TrEMBL
  J3KQ82 ENTREZGENE, UniProtKB/TrEMBL
  Q15415 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R916 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-06 RBMY1J  RNA binding motif protein Y-linked family 1 member J  RBMY1J  RNA binding motif protein, Y-linked, family 1, member J  Symbol and/or name change 5135510 APPROVED