RBM17 (RNA binding motif protein 17) - Rat Genome Database

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Gene: RBM17 (RNA binding motif protein 17) Homo sapiens
Analyze
Symbol: RBM17
Name: RNA binding motif protein 17
RGD ID: 1322546
HGNC Page HGNC:16944
Description: Predicted to enable RNA binding activity. Involved in alternative mRNA splicing, via spliceosome. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 45 kDa-splicing factor; DKFZp686F13131; MGC14439; RNA-binding motif protein 17; SPF45; splicing factor 45; splicing factor 45kDa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RBM17P1   RBM17P2   RBM17P3   RBM17P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38106,089,034 - 6,117,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl106,089,034 - 6,117,457 (+)EnsemblGRCh38hg38GRCh38
GRCh37106,130,997 - 6,159,410 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36106,171,013 - 6,198,849 (+)NCBINCBI36Build 36hg18NCBI36
Build 34106,171,012 - 6,198,845NCBI
Celera106,060,328 - 6,088,794 (+)NCBICelera
Cytogenetic Map10p15.1NCBI
HuRef106,057,262 - 6,085,729 (+)NCBIHuRef
CHM1_1106,131,060 - 6,159,561 (+)NCBICHM1_1
T2T-CHM13v2.0106,089,199 - 6,117,608 (+)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

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:9731529   PMID:12015979   PMID:12086596   PMID:12234937   PMID:14578179   PMID:14702039   PMID:15146197   PMID:15489334   PMID:16055720   PMID:16061639   PMID:16189514   PMID:16385451  
PMID:17081983   PMID:17207965   PMID:17332742   PMID:17577209   PMID:17589525   PMID:17676041   PMID:18029348   PMID:18337722   PMID:18854154   PMID:19322201   PMID:19454010   PMID:20360068  
PMID:20410501   PMID:20467437   PMID:21145461   PMID:21319273   PMID:21516116   PMID:21835928   PMID:21873635   PMID:22113938   PMID:22190034   PMID:22365833   PMID:22615491   PMID:22990118  
PMID:23184937   PMID:24388013   PMID:24711643   PMID:24858692   PMID:24981860   PMID:25416956   PMID:25798074   PMID:26186194   PMID:26344197   PMID:26420826   PMID:26496610   PMID:26527279  
PMID:26673895   PMID:26687479   PMID:26949251   PMID:27591049   PMID:27684187   PMID:27926873   PMID:28431233   PMID:28514442   PMID:28977666   PMID:29021621   PMID:29298432   PMID:29331416  
PMID:29395067   PMID:29509190   PMID:29802200   PMID:29844126   PMID:29884807   PMID:30033366   PMID:30179224   PMID:30227940   PMID:30344098   PMID:30404004   PMID:30804502   PMID:30833792  
PMID:30884312   PMID:30890647   PMID:31002816   PMID:31010829   PMID:31048545   PMID:31076518   PMID:31091453   PMID:31515488   PMID:31586073   PMID:31980649   PMID:32296183   PMID:32416067  
PMID:32497093   PMID:32687490   PMID:32698014   PMID:32707033   PMID:32807901   PMID:32814053   PMID:32971831   PMID:32994395   PMID:33306668   PMID:33545068   PMID:33640491   PMID:33742100  
PMID:33838681   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34189442   PMID:34225773   PMID:34373451   PMID:34389706   PMID:34728620   PMID:35013218   PMID:35271311  
PMID:35781533   PMID:35831314   PMID:35850772   PMID:35906200   PMID:35915203   PMID:35941108   PMID:35944360   PMID:35973513   PMID:35987950   PMID:36114006   PMID:36215168   PMID:36232890  
PMID:36244648   PMID:36273042   PMID:36373674   PMID:36520054   PMID:36537216   PMID:36574265   PMID:37219487   PMID:37314180   PMID:37314216   PMID:37689310   PMID:37827155   PMID:38065098  
PMID:38113892   PMID:38270169   PMID:38697112  


Genomics

Comparative Map Data
RBM17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38106,089,034 - 6,117,447 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl106,089,034 - 6,117,457 (+)EnsemblGRCh38hg38GRCh38
GRCh37106,130,997 - 6,159,410 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36106,171,013 - 6,198,849 (+)NCBINCBI36Build 36hg18NCBI36
Build 34106,171,012 - 6,198,845NCBI
Celera106,060,328 - 6,088,794 (+)NCBICelera
Cytogenetic Map10p15.1NCBI
HuRef106,057,262 - 6,085,729 (+)NCBIHuRef
CHM1_1106,131,060 - 6,159,561 (+)NCBICHM1_1
T2T-CHM13v2.0106,089,199 - 6,117,608 (+)NCBIT2T-CHM13v2.0
Rbm17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39211,590,250 - 11,608,061 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl211,590,248 - 11,608,964 (-)EnsemblGRCm39 Ensembl
GRCm38211,585,439 - 11,603,199 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl211,585,437 - 11,604,153 (-)EnsemblGRCm38mm10GRCm38
MGSCv37211,507,066 - 11,524,826 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36211,503,292 - 11,521,052 (-)NCBIMGSCv36mm8
Celera211,504,598 - 11,522,403 (-)NCBICelera
Cytogenetic Map2A1NCBI
cM Map28.85NCBI
Rbm17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81771,846,941 - 71,863,834 (+)NCBIGRCr8
mRatBN7.21766,937,140 - 66,954,034 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1766,937,140 - 66,954,014 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1770,422,794 - 70,439,754 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01774,251,622 - 74,268,582 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01768,294,616 - 68,311,577 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01770,586,345 - 70,603,289 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1770,586,394 - 70,603,267 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01772,288,967 - 72,305,900 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41778,139,912 - 78,156,805 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11778,150,744 - 78,167,631 (+)NCBI
Celera1766,441,566 - 66,458,459 (+)NCBICelera
Cytogenetic Map17q12.2NCBI
Rbm17
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542122,732,757 - 22,746,014 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542122,732,757 - 22,745,926 (+)NCBIChiLan1.0ChiLan1.0
RBM17
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2818,642,158 - 18,670,043 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11018,647,503 - 18,675,366 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0106,129,708 - 6,157,513 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1106,120,488 - 6,140,085 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl106,120,488 - 6,140,085 (+)Ensemblpanpan1.1panPan2
RBM17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1229,828,720 - 29,853,922 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl229,829,210 - 29,853,841 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha226,859,360 - 26,884,558 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0230,209,817 - 30,235,027 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl230,209,024 - 30,234,985 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1227,306,882 - 27,332,090 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0228,142,934 - 28,168,134 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0228,862,842 - 28,888,059 (-)NCBIUU_Cfam_GSD_1.0
Rbm17
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934432,292,267 - 32,312,839 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364848,457,462 - 8,478,309 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364848,457,469 - 8,478,030 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBM17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1064,885,870 - 64,908,963 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11064,886,433 - 64,909,006 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21070,943,098 - 70,964,954 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RBM17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.196,213,477 - 6,240,945 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl96,221,570 - 6,239,678 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605111,517,551 - 11,549,925 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbm17
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247751,041,348 - 1,071,194 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247751,041,666 - 1,067,195 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBM17
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3 copy number gain See cases [RCV000051132] Chr10:90421..6769994 [GRCh38]
Chr10:224406..6811956 [GRCh37]
Chr10:126361..6851962 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3 copy number gain See cases [RCV000051107] Chr10:90421..8442783 [GRCh38]
Chr10:224406..8484746 [GRCh37]
Chr10:126361..8524752 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1 copy number loss See cases [RCV000052493] Chr10:69260..6209368 [GRCh38]
Chr10:224406..6251331 [GRCh37]
Chr10:105200..6291337 [NCBI36]
Chr10:10p15.3-15.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]|See cases [RCV000052496] Chr10:90421..15569528 [GRCh38]
Chr10:224406..15611527 [GRCh37]
Chr10:126361..15651533 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1 copy number loss See cases [RCV000052500] Chr10:4802753..16823491 [GRCh38]
Chr10:4844945..16865490 [GRCh37]
Chr10:4834945..16905496 [NCBI36]
Chr10:10p15.1-13		 pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3 copy number gain See cases [RCV000053507] Chr10:69261..19184047 [GRCh38]
Chr10:224406..19472976 [GRCh37]
Chr10:105201..19512982 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3 copy number gain See cases [RCV000053508] Chr10:90221..22567425 [GRCh38]
Chr10:224406..22856354 [GRCh37]
Chr10:126161..22896360 [NCBI36]
Chr10:10p15.3-12.2		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]|See cases [RCV000053511] Chr10:90421..7085100 [GRCh38]
Chr10:224406..7127062 [GRCh37]
Chr10:126361..7167068 [NCBI36]
Chr10:10p15.3-14		 pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
NM_001145547.1(RBM17):c.-18-1168A>G single nucleotide variant Lung cancer [RCV000109220] Chr10:6095880 [GRCh38]
Chr10:6137843 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3 copy number gain See cases [RCV000135340] Chr10:73856..12815915 [GRCh38]
Chr10:119796..12857914 [GRCh37]
Chr10:109796..12897920 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1 copy number loss See cases [RCV000135820] Chr10:4605831..7403265 [GRCh38]
Chr10:4648023..7445227 [GRCh37]
Chr10:4638023..7485233 [NCBI36]
Chr10:10p15.1-14		 uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3 copy number gain See cases [RCV000135533] Chr10:90421..11713049 [GRCh38]
Chr10:224406..11755048 [GRCh37]
Chr10:126361..11795054 [NCBI36]
Chr10:10p15.3-14		 pathogenic|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3 copy number gain See cases [RCV000137384] Chr10:70478..15373336 [GRCh38]
Chr10:224406..15415335 [GRCh37]
Chr10:106418..15455341 [NCBI36]
Chr10:10p15.3-13		 uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1		 pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1 copy number loss See cases [RCV000138960] Chr10:70478..13736564 [GRCh38]
Chr10:224406..13778564 [GRCh37]
Chr10:106418..13818570 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22		 benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3 copy number gain See cases [RCV000142292] Chr10:54086..13205916 [GRCh38]
Chr10:100026..13247916 [GRCh37]
Chr10:90026..13287922 [NCBI36]
Chr10:10p15.3-13		 pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3 copy number gain See cases [RCV000142241] Chr10:1601172..9203729 [GRCh38]
Chr10:1643367..9245692 [GRCh37]
Chr10:1633367..9285698 [NCBI36]
Chr10:10p15.3-14		 likely pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1 copy number loss See cases [RCV000143703] Chr10:54086..19336980 [GRCh38]
Chr10:100026..19625909 [GRCh37]
Chr10:90026..19665915 [NCBI36]
Chr10:10p15.3-12.31		 pathogenic|likely pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1 copy number loss See cases [RCV000239795] Chr10:2593113..8484746 [GRCh37]
Chr10:10p15.3-14		 pathogenic
NM_032905.5(RBM17):c.973G>T (p.Glu325Ter) single nucleotide variant not provided [RCV003314215] Chr10:6114091 [GRCh38]
Chr10:6156054 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1 copy number loss See cases [RCV000446357] Chr10:136361..8850609 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23		 pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3 copy number gain See cases [RCV000445989] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23		 pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1 copy number loss See cases [RCV000512541] Chr10:100026..12842179 [GRCh37]
Chr10:10p15.3-13		 pathogenic
Single allele deletion Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901] Chr10:4689760..19120882 [GRCh37]
Chr10:10p15.1-12.31		 pathogenic
GRCh37/hg19 10p15.1(chr10:5670275-6281215)x3 copy number gain not provided [RCV000737004] Chr10:5670275..6281215 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.1(chr10:6129874-6358318)x3 copy number gain not provided [RCV000737005] Chr10:6129874..6358318 [GRCh37]
Chr10:10p15.1		 benign
Single allele duplication Schizophrenia [RCV000754118] Chr10:3076972..6208037 [GRCh38]
Chr10:10p15.2-15.1		 likely pathogenic
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3 copy number gain not provided [RCV000749463] Chr10:69083..12887271 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_032905.5(RBM17):c.840C>T (p.Gly280=) single nucleotide variant not provided [RCV000892617] Chr10:6112345 [GRCh38]
Chr10:6154308 [GRCh37]
Chr10:10p15.1		 benign
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848062] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3 copy number gain not provided [RCV000848090] Chr10:100026..15273144 [GRCh37]
Chr10:10p15.3-13		 pathogenic
NM_032905.5(RBM17):c.508A>G (p.Met170Val) single nucleotide variant not specified [RCV004300923] Chr10:6108688 [GRCh38]
Chr10:6150651 [GRCh37]
Chr10:10p15.1		 uncertain significance
Single allele deletion not provided [RCV001391669] Chr10:120001..6920000 [GRCh37]
Chr10:10p15.3-14		 pathogenic
GRCh37/hg19 10p15.1(chr10:5952259-6486611) copy number gain not specified [RCV002052862] Chr10:5952259..6486611 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3 copy number gain not provided [RCV001827671] Chr10:4927427..6653936 [GRCh37]
Chr10:10p15.1-14		 uncertain significance
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296) copy number gain not specified [RCV002052861] Chr10:2116123..8856296 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4 copy number gain Mosaic supernumerary isodicentric chromosome 10 [RCV001825164] Chr10:135655..47688677 [GRCh37]
Chr10:10p15.3-q11.22		 not provided
GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3 copy number gain not provided [RCV002472393] Chr10:100027..12648149 [GRCh37]
Chr10:10p15.3-13		 uncertain significance
NM_032905.5(RBM17):c.236T>G (p.Leu79Arg) single nucleotide variant not specified [RCV004098276] Chr10:6101383 [GRCh38]
Chr10:6143346 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_032905.5(RBM17):c.307A>G (p.Met103Val) single nucleotide variant not specified [RCV004079366] Chr10:6104997 [GRCh38]
Chr10:6146960 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_032905.5(RBM17):c.1004A>G (p.Lys335Arg) single nucleotide variant not specified [RCV004116220] Chr10:6114122 [GRCh38]
Chr10:6156085 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_032905.5(RBM17):c.188C>T (p.Ser63Leu) single nucleotide variant not specified [RCV004219641] Chr10:6101335 [GRCh38]
Chr10:6143298 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.1(chr10:5971020-6231793)x3 copy number gain not specified [RCV003986865] Chr10:5971020..6231793 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_032905.5(RBM17):c.325G>A (p.Glu109Lys) single nucleotide variant not specified [RCV004441154] Chr10:6105015 [GRCh38]
Chr10:6146978 [GRCh37]
Chr10:10p15.1		 uncertain significance
GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3 copy number gain See cases [RCV004442806] Chr10:1274308..12045503 [GRCh37]
Chr10:10p15.3-14		 uncertain significance
NM_032905.5(RBM17):c.557A>G (p.Lys186Arg) single nucleotide variant not specified [RCV004441155] Chr10:6108737 [GRCh38]
Chr10:6150700 [GRCh37]
Chr10:10p15.1		 uncertain significance
NM_032905.5(RBM17):c.321T>A (p.Asp107Glu) single nucleotide variant not specified [RCV004660797] Chr10:6105011 [GRCh38]
Chr10:6146974 [GRCh37]
Chr10:10p15.1		 uncertain significance
NC_000010.11:g.5955208_7871319dup duplication not provided [RCV004722369] Chr10:5955208..7871319 [GRCh38]
Chr10:10p15.1-14		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2219
Count of miRNA genes:856
Interacting mature miRNAs:1003
Transcripts:ENST00000379888, ENST00000418631, ENST00000432931, ENST00000437845, ENST00000446108, ENST00000447032, ENST00000465906, ENST00000467080, ENST00000467214, ENST00000476706, ENST00000481147, ENST00000496762
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407010528GWAS659504_Hsoluble interleukin-2 receptor subunit alpha measurement, gestational serum measurement, protein measurement, parental genotype effect measurement QTL GWAS659504 (human)4e-09soluble interleukin-2 receptor subunit alpha measurement, gestational serum measurement, protein measurement, parental genotype effect measurement1061070746107075Human
407174416GWAS823392_Hblood protein measurement QTL GWAS823392 (human)3e-1114blood protein measurementblood protein measurement (CMO:0000028)1061070746107075Human
406943561GWAS592537_Hprotein measurement QTL GWAS592537 (human)4e-72protein measurement1060951206095121Human
407174414GWAS823390_Hblood protein measurement QTL GWAS823390 (human)5e-1311blood protein measurementblood protein measurement (CMO:0000028)1061070746107075Human
407312908GWAS961884_Hserum non-albumin protein measurement QTL GWAS961884 (human)2e-19serum non-albumin protein measurementserum globulin level (CMO:0002399)1061070746107075Human
407067471GWAS716447_Hblood protein measurement QTL GWAS716447 (human)1e-14blood protein measurementblood protein measurement (CMO:0000028)1061070746107075Human
407210312GWAS859288_Hlymphocyte count QTL GWAS859288 (human)1e-12lymphocyte countblood lymphocyte count (CMO:0000031)1060929066092907Human

Markers in Region
RH122660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,150,921 - 6,151,268UniSTSGRCh37
Build 36106,190,927 - 6,191,274RGDNCBI36
Celera106,080,296 - 6,080,644RGD
Cytogenetic Map10p15.1UniSTS
HuRef106,077,231 - 6,077,579UniSTS
TNG Radiation Hybrid Map103109.0UniSTS
D10S1520  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,133,420 - 6,133,793UniSTSGRCh37
Build 36106,173,426 - 6,173,799RGDNCBI36
Celera106,062,799 - 6,063,172RGD
Cytogenetic Map10p15.1UniSTS
HuRef106,059,743 - 6,060,116UniSTS
A009D35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,158,057 - 6,158,237UniSTSGRCh37
Build 36106,198,063 - 6,198,243RGDNCBI36
Celera106,087,429 - 6,087,609RGD
Cytogenetic Map10p15.1UniSTS
HuRef106,084,364 - 6,084,544UniSTS
GeneMap99-GB4 RH Map1058.39UniSTS
NCBI RH Map10114.3UniSTS
STS-H58939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,157,013 - 6,157,226UniSTSGRCh37
Build 36106,197,019 - 6,197,232RGDNCBI36
Celera106,086,389 - 6,086,602RGD
Cytogenetic Map10p15.1UniSTS
HuRef106,083,324 - 6,083,537UniSTS
GeneMap99-GB4 RH Map1056.3UniSTS
NCBI RH Map10130.4UniSTS
STS-R99346  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371535,590,602 - 35,590,789UniSTSGRCh37
Build 361533,377,894 - 33,378,081RGDNCBI36
Celera1512,349,888 - 12,350,075RGD
Cytogenetic Map15q14UniSTS
Cytogenetic Map10p15.1UniSTS
HuRef1512,435,665 - 12,435,852UniSTS
GeneMap99-GB4 RH Map1594.12UniSTS
NCBI RH Map1546.9UniSTS
RH11159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,158,528 - 6,158,714UniSTSGRCh37
Build 36106,198,534 - 6,198,720RGDNCBI36
Celera106,087,900 - 6,088,086RGD
Cytogenetic Map10p15.1UniSTS
HuRef106,084,835 - 6,085,021UniSTS
GeneMap99-GB4 RH Map1049.6UniSTS
NCBI RH Map10149.5UniSTS
WI-20510  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,158,446 - 6,158,714UniSTSGRCh37
Build 36106,198,452 - 6,198,720RGDNCBI36
Celera106,087,818 - 6,088,086RGD
Cytogenetic Map10p15.1UniSTS
HuRef106,084,753 - 6,085,021UniSTS
GeneMap99-GB4 RH Map1054.16UniSTS
Whitehead-RH Map1056.1UniSTS
G32453  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37106,158,057 - 6,158,237UniSTSGRCh37
Celera106,087,429 - 6,087,609UniSTS
Cytogenetic Map10p15.1UniSTS
HuRef106,084,364 - 6,084,544UniSTS
RH80691  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p15.1UniSTS
HuRef106,083,893 - 6,084,131UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001747246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA905075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF542550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN291330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV570433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000379888   ⟹   ENSP00000369218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,089,034 - 6,117,447 (+)Ensembl
Ensembl Acc Id: ENST00000418631   ⟹   ENSP00000402303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,096,910 - 6,110,059 (+)Ensembl
Ensembl Acc Id: ENST00000432931   ⟹   ENSP00000408214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,089,071 - 6,110,090 (+)Ensembl
Ensembl Acc Id: ENST00000437845   ⟹   ENSP00000395448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,089,054 - 6,112,321 (+)Ensembl
Ensembl Acc Id: ENST00000446108   ⟹   ENSP00000388638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,089,346 - 6,117,457 (+)Ensembl
Ensembl Acc Id: ENST00000447032   ⟹   ENSP00000406024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,104,971 - 6,112,461 (+)Ensembl
Ensembl Acc Id: ENST00000465906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,113,363 - 6,115,834 (+)Ensembl
Ensembl Acc Id: ENST00000467080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,113,907 - 6,115,834 (+)Ensembl
Ensembl Acc Id: ENST00000467214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,104,946 - 6,106,377 (+)Ensembl
Ensembl Acc Id: ENST00000476706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,112,702 - 6,115,766 (+)Ensembl
Ensembl Acc Id: ENST00000481147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,108,488 - 6,112,423 (+)Ensembl
Ensembl Acc Id: ENST00000496762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl106,114,147 - 6,115,872 (+)Ensembl
RefSeq Acc Id: NM_001145547   ⟹   NP_001139019
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38106,089,346 - 6,117,447 (+)NCBI
GRCh37106,130,949 - 6,159,422 (+)RGD
Celera106,060,328 - 6,088,794 (+)RGD
HuRef106,057,262 - 6,085,729 (+)ENTREZGENE
CHM1_1106,131,420 - 6,159,561 (+)NCBI
T2T-CHM13v2.0106,089,511 - 6,117,608 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032905   ⟹   NP_116294
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38106,089,034 - 6,117,447 (+)NCBI
GRCh37106,130,949 - 6,159,422 (+)RGD
Build 36106,171,013 - 6,198,849 (+)NCBI Archive
Celera106,060,328 - 6,088,794 (+)RGD
HuRef106,057,262 - 6,085,729 (+)ENTREZGENE
CHM1_1106,131,060 - 6,159,561 (+)NCBI
T2T-CHM13v2.0106,089,199 - 6,117,608 (+)NCBI
Sequence:
RefSeq Acc Id: NP_116294   ⟸   NM_032905
- UniProtKB: Q96GY6 (UniProtKB/Swiss-Prot),   Q96I25 (UniProtKB/Swiss-Prot),   Q5W009 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139019   ⟸   NM_001145547
- UniProtKB: Q96GY6 (UniProtKB/Swiss-Prot),   Q96I25 (UniProtKB/Swiss-Prot),   Q5W009 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000395448   ⟸   ENST00000437845
Ensembl Acc Id: ENSP00000369218   ⟸   ENST00000379888
Ensembl Acc Id: ENSP00000402303   ⟸   ENST00000418631
Ensembl Acc Id: ENSP00000388638   ⟸   ENST00000446108
Ensembl Acc Id: ENSP00000408214   ⟸   ENST00000432931
Ensembl Acc Id: ENSP00000406024   ⟸   ENST00000447032
Protein Domains
G-patch   RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96I25-F1-model_v2 AlphaFold Q96I25 1-401 view protein structure

Promoters
RGD ID:7216923
Promoter ID:EPDNEW_H14208
Type:initiation region
Name:RBM17_1
Description:RNA binding motif protein 17
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14207  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38106,089,034 - 6,089,094EPDNEW
RGD ID:6788040
Promoter ID:HG_KWN:8489
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372795,   NM_001145547,   NM_032905,   OTTHUMT00000046637,   OTTHUMT00000046639
Position:
Human AssemblyChrPosition (strand)Source
Build 36106,170,761 - 6,171,261 (+)MPROMDB
RGD ID:6788041
Promoter ID:HG_KWN:8493
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000046633,   OTTHUMT00000046634,   OTTHUMT00000046643,   UC001IJC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36106,194,901 - 6,195,401 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16944 AgrOrtholog
COSMIC RBM17 COSMIC
Ensembl Genes ENSG00000134453 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379888 ENTREZGENE
  ENST00000379888.9 UniProtKB/Swiss-Prot
  ENST00000418631.5 UniProtKB/TrEMBL
  ENST00000432931.5 UniProtKB/TrEMBL
  ENST00000437845.6 UniProtKB/TrEMBL
  ENST00000446108 ENTREZGENE
  ENST00000446108.5 UniProtKB/Swiss-Prot
  ENST00000447032.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134453 GTEx
HGNC ID HGNC:16944 ENTREZGENE
Human Proteome Map RBM17 Human Proteome Map
InterPro G_patch_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBM17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPF45_RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84991 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 84991 ENTREZGENE
OMIM 606935 OMIM
PANTHER PTHR13288 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPLICING FACTOR 45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam G-patch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134860993 PharmGKB
PIRSF Splicing_factor_SPF45 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PATCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART G_patch UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0Y6J6_HUMAN UniProtKB/TrEMBL
  L8EAL0_HUMAN UniProtKB/TrEMBL
  Q5W009 ENTREZGENE, UniProtKB/TrEMBL
  Q5W010_HUMAN UniProtKB/TrEMBL
  Q5W011_HUMAN UniProtKB/TrEMBL
  Q5W012_HUMAN UniProtKB/TrEMBL
  Q96GY6 ENTREZGENE
  Q96I25 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q96GY6 UniProtKB/Swiss-Prot