RALBP1 (ralA binding protein 1) - Rat Genome Database

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Gene: RALBP1 (ralA binding protein 1) Homo sapiens
Analyze
Symbol: RALBP1
Name: ralA binding protein 1
RGD ID: 737281
HGNC Page HGNC:9841
Description: Enables several functions, including GTPase activator activity; small GTPase binding activity; and xenobiotic transmembrane transporter activity. Involved in several processes, including doxorubicin transport; positive regulation of mitochondrial fission; and xenobiotic detoxification by transmembrane export across the plasma membrane. Located in mitochondrion; nuclear body; and plasma membrane. Implicated in pancreatic adenocarcinoma. Biomarker of urinary bladder cancer.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 76 kDa Ral-interacting protein; dinitrophenyl S-glutathione ATPase; DNP-SG ATPase; ral-interacting protein 1; ralA-binding protein 1; RIP1; RLIP1; RLIP76
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RALBP1P1   RALBP1P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,475,009 - 9,538,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,475,009 - 9,538,114 (+)EnsemblGRCh38hg38GRCh38
GRCh37189,475,511 - 9,538,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,465,530 - 9,528,106 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,465,529 - 9,528,105NCBI
Celera189,359,767 - 9,422,335 (+)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,437,998 - 9,500,600 (+)NCBIHuRef
CHM1_1189,475,240 - 9,537,838 (+)NCBICHM1_1
T2T-CHM13v2.0189,636,797 - 9,701,515 (+)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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. RLIP76 regulates PI3K/Akt signaling and chemo-radiotherapy resistance in pancreatic cancer. Leake K, etal., PLoS One. 2012;7(4):e34582. doi: 10.1371/journal.pone.0034582. Epub 2012 Apr 3.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Expression of ral GTPases, their effectors, and activators in human bladder cancer. Smith SC, etal., Clin Cancer Res. 2007 Jul 1;13(13):3803-13.
7. Doxorubicin pathways: pharmacodynamics and adverse effects. Thorn CF, etal., Pharmacogenet Genomics. 2011 Jul;21(7):440-6. doi: 10.1097/FPC.0b013e32833ffb56.
Additional References at PubMed
PMID:7623849   PMID:7673236   PMID:8570186   PMID:9395447   PMID:9422736   PMID:9753634   PMID:10364219   PMID:10764745   PMID:10848592   PMID:10910768   PMID:10924126   PMID:11437348  
PMID:11732624   PMID:11882656   PMID:12433796   PMID:12477932   PMID:12527936   PMID:12621024   PMID:12632060   PMID:12632061   PMID:12775724   PMID:12887920   PMID:12888294   PMID:14525976  
PMID:15247912   PMID:15310755   PMID:15451561   PMID:15489334   PMID:15592429   PMID:15707977   PMID:16087181   PMID:16188027   PMID:16189514   PMID:16227629   PMID:16890208   PMID:17047155  
PMID:17081983   PMID:17703191   PMID:17706599   PMID:17982077   PMID:17993611   PMID:18086001   PMID:18239685   PMID:18474607   PMID:18628450   PMID:18976975   PMID:19073149   PMID:19375851  
PMID:19417134   PMID:19626587   PMID:20183533   PMID:20709745   PMID:21170262   PMID:21241894   PMID:21516116   PMID:21653829   PMID:21671802   PMID:21822277   PMID:21873635   PMID:22331470  
PMID:22549157   PMID:22939629   PMID:23211419   PMID:23276796   PMID:23414517   PMID:23419874   PMID:23576547   PMID:23718855   PMID:24056301   PMID:24450627   PMID:24550280   PMID:24839008  
PMID:25213293   PMID:25241761   PMID:25416956   PMID:25437307   PMID:25814554   PMID:25910212   PMID:25993541   PMID:26067553   PMID:26125275   PMID:26186194   PMID:26344197   PMID:26406496  
PMID:26496610   PMID:26598620   PMID:26975227   PMID:27107014   PMID:27473470   PMID:27572296   PMID:27748916   PMID:28514442   PMID:28537681   PMID:28580172   PMID:28851898   PMID:29892012  
PMID:30126976   PMID:30196744   PMID:30684594   PMID:30771458   PMID:31336396   PMID:31515488   PMID:31746408   PMID:31904398   PMID:31980649   PMID:32203420   PMID:32296183   PMID:32707033  
PMID:32814053   PMID:33460725   PMID:33544936   PMID:33623991   PMID:33961781   PMID:34079125   PMID:35271311   PMID:35325436   PMID:35384245   PMID:35831314   PMID:35914814   PMID:35998001  
PMID:36244648   PMID:36736316   PMID:37633469   PMID:37926360  


Genomics

Comparative Map Data
RALBP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,475,009 - 9,538,114 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,475,009 - 9,538,114 (+)EnsemblGRCh38hg38GRCh38
GRCh37189,475,511 - 9,538,112 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,465,530 - 9,528,106 (+)NCBINCBI36Build 36hg18NCBI36
Build 34189,465,529 - 9,528,105NCBI
Celera189,359,767 - 9,422,335 (+)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,437,998 - 9,500,600 (+)NCBIHuRef
CHM1_1189,475,240 - 9,537,838 (+)NCBICHM1_1
T2T-CHM13v2.0189,636,797 - 9,701,515 (+)NCBIT2T-CHM13v2.0
Ralbp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391766,155,410 - 66,192,750 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1766,155,413 - 66,192,793 (-)EnsemblGRCm39 Ensembl
GRCm381765,848,415 - 65,885,755 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1765,848,418 - 65,885,798 (-)EnsemblGRCm38mm10GRCm38
MGSCv371766,197,755 - 66,217,171 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361765,747,984 - 65,784,368 (-)NCBIMGSCv36mm8
Celera1770,152,450 - 70,171,874 (-)NCBICelera
Cytogenetic Map17E1.1NCBI
cM Map1735.26NCBI
Ralbp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89112,903,289 - 112,940,093 (-)NCBIGRCr8
mRatBN7.29105,456,425 - 105,493,235 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9105,456,425 - 105,492,707 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9113,864,919 - 113,901,662 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09118,974,826 - 119,011,623 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09117,330,768 - 117,367,512 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09113,579,107 - 113,598,477 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9113,579,107 - 113,598,480 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09113,111,327 - 113,130,697 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49104,617,400 - 104,653,856 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19104,826,889 - 104,863,322 (-)NCBI
Celera9102,832,909 - 102,869,009 (-)NCBICelera
Cytogenetic Map9q37NCBI
Ralbp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554022,569,637 - 2,616,040 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554022,571,672 - 2,616,040 (-)NCBIChiLan1.0ChiLan1.0
RALBP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21728,912,572 - 28,978,250 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11814,604,717 - 14,670,844 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0184,747,555 - 4,810,710 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1187,028,188 - 7,091,369 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl187,028,188 - 7,090,934 (-)Ensemblpanpan1.1panPan2
RALBP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1775,461,220 - 75,511,860 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl775,461,222 - 75,510,229 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha774,854,142 - 74,908,610 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0775,516,008 - 75,571,183 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl775,516,476 - 75,571,183 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1775,213,986 - 75,269,336 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0775,231,509 - 75,286,643 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0775,541,877 - 75,596,810 (+)NCBIUU_Cfam_GSD_1.0
Ralbp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049442,604,387 - 2,623,145 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366261,832,584 - 1,851,467 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366261,832,703 - 1,851,486 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RALBP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl698,550,933 - 98,598,206 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1698,550,925 - 98,598,945 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2691,859,552 - 91,908,358 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RALBP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11868,353,823 - 68,415,221 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1868,391,245 - 68,413,555 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605043,305,367 - 43,366,990 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ralbp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477018,127,025 - 18,147,465 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477018,117,106 - 18,147,472 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RALBP1
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.22(chr18:9518608-10784749)x1 copy number loss See cases [RCV000052075] Chr18:9518608..10784749 [GRCh38]
Chr18:9518606..10784747 [GRCh37]
Chr18:9508606..10774747 [NCBI36]
Chr18:18p11.22
uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1 copy number loss See cases [RCV000053828] Chr18:7154668..10068356 [GRCh38]
Chr18:7154667..10068353 [GRCh37]
Chr18:7144667..10058353 [NCBI36]
Chr18:18p11.31-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 copy number gain See cases [RCV000136590] Chr18:2425507..11904118 [GRCh38]
Chr18:2425506..11904117 [GRCh37]
Chr18:2415506..11894117 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 copy number loss See cases [RCV000137503] Chr18:7290175..13049470 [GRCh38]
Chr18:7290173..13049469 [GRCh37]
Chr18:7280173..13039469 [NCBI36]
Chr18:18p11.23-11.21
likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.22(chr18:9026805-9592203)x3 copy number gain See cases [RCV000139023] Chr18:9026805..9592203 [GRCh38]
Chr18:9026803..9592201 [GRCh37]
Chr18:9016803..9582201 [NCBI36]
Chr18:18p11.22
uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1 copy number loss See cases [RCV000142225] Chr18:958974..11954935 [GRCh38]
Chr18:958975..11954934 [GRCh37]
Chr18:948975..11944934 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21
uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.22(chr18:9450518-9547947)x3 copy number gain Premature ovarian failure [RCV000225153] Chr18:9450518..9547947 [GRCh37]
Chr18:18p11.22
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2
pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3 copy number gain See cases [RCV000511962] Chr18:2737126..9660466 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_006788.4(RALBP1):c.680G>T (p.Cys227Phe) single nucleotide variant Inborn genetic diseases [RCV003256579] Chr18:9517280 [GRCh38]
Chr18:9517278 [GRCh37]
Chr18:18p11.22
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.23-11.22(chr18:7486105-9557565)x3 copy number gain not provided [RCV000684029] Chr18:7486105..9557565 [GRCh37]
Chr18:18p11.23-11.22
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_006788.4(RALBP1):c.258A>G (p.Ala86=) single nucleotide variant not provided [RCV000924841] Chr18:9516858 [GRCh38]
Chr18:9516856 [GRCh37]
Chr18:18p11.22
likely benign
NM_006788.4(RALBP1):c.1923G>A (p.Pro641=) single nucleotide variant not provided [RCV000924842] Chr18:9535892 [GRCh38]
Chr18:9535890 [GRCh37]
Chr18:18p11.22
likely benign
NM_006788.4(RALBP1):c.884C>T (p.Thr295Met) single nucleotide variant not provided [RCV000924577] Chr18:9522340 [GRCh38]
Chr18:9522338 [GRCh37]
Chr18:18p11.22
benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1 copy number loss not provided [RCV001006944] Chr18:971295..11250447 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
NC_000018.9:g.(?_9102742)_(12725530_?)dup duplication Dystonic disorder [RCV003105519] Chr18:9102742..12725530 [GRCh37]
Chr18:18p11.22-11.21
uncertain significance
NM_006788.4(RALBP1):c.1804G>A (p.Glu602Lys) single nucleotide variant Inborn genetic diseases [RCV003252034] Chr18:9535773 [GRCh38]
Chr18:9535771 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1270T>C (p.Ser424Pro) single nucleotide variant Inborn genetic diseases [RCV003252677] Chr18:9525774 [GRCh38]
Chr18:9525772 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1899G>A (p.Glu633=) single nucleotide variant not provided [RCV000933559] Chr18:9535868 [GRCh38]
Chr18:9535866 [GRCh37]
Chr18:18p11.22
likely benign
NM_006788.4(RALBP1):c.623G>A (p.Arg208Gln) single nucleotide variant not provided [RCV000966253] Chr18:9517223 [GRCh38]
Chr18:9517221 [GRCh37]
Chr18:18p11.22
benign
GRCh37/hg19 18p11.22(chr18:9285823-9559924)x1 copy number loss not provided [RCV001006942] Chr18:9285823..9559924 [GRCh37]
Chr18:18p11.22
uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_006788.4(RALBP1):c.894G>A (p.Glu298=) single nucleotide variant not provided [RCV000889250] Chr18:9522350 [GRCh38]
Chr18:9522348 [GRCh37]
Chr18:18p11.22
likely benign
NM_006788.4(RALBP1):c.1814C>T (p.Ala605Val) single nucleotide variant Inborn genetic diseases [RCV002748965] Chr18:9535783 [GRCh38]
Chr18:9535781 [GRCh37]
Chr18:18p11.22
likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1 copy number loss not provided [RCV002472559] Chr18:136227..11283184 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.22(chr18:8585096-9660466)x1 copy number loss not provided [RCV002473808] Chr18:8585096..9660466 [GRCh37]
Chr18:18p11.22
uncertain significance
GRCh37/hg19 18p11.22(chr18:9164758-9538533)x3 copy number gain not provided [RCV001006940] Chr18:9164758..9538533 [GRCh37]
Chr18:18p11.22
likely benign
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.23-11.22(chr18:8165369-9557565)x3 copy number gain not provided [RCV001006941] Chr18:8165369..9557565 [GRCh37]
Chr18:18p11.23-11.22
uncertain significance
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22
pathogenic
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 copy number loss not provided [RCV001258695] Chr18:7598173..15422644 [GRCh37]
Chr18:18p11.23-11.1
pathogenic
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1
pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
NM_006788.4(RALBP1):c.271G>C (p.Asp91His) single nucleotide variant Inborn genetic diseases [RCV002901044] Chr18:9516871 [GRCh38]
Chr18:9516869 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.658G>C (p.Val220Leu) single nucleotide variant Inborn genetic diseases [RCV002841026] Chr18:9517258 [GRCh38]
Chr18:9517256 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1637G>A (p.Ser546Asn) single nucleotide variant Inborn genetic diseases [RCV002661381] Chr18:9533762 [GRCh38]
Chr18:9533760 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1169C>T (p.Thr390Met) single nucleotide variant Inborn genetic diseases [RCV002830894] Chr18:9524709 [GRCh38]
Chr18:9524707 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1852G>A (p.Val618Ile) single nucleotide variant Inborn genetic diseases [RCV002708727] Chr18:9535821 [GRCh38]
Chr18:9535819 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.584C>G (p.Ala195Gly) single nucleotide variant Inborn genetic diseases [RCV002789550] Chr18:9517184 [GRCh38]
Chr18:9517182 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.964A>G (p.Ile322Val) single nucleotide variant Inborn genetic diseases [RCV002941580] Chr18:9522420 [GRCh38]
Chr18:9522418 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.407A>G (p.His136Arg) single nucleotide variant Inborn genetic diseases [RCV002748609] Chr18:9517007 [GRCh38]
Chr18:9517005 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1240C>G (p.Arg414Gly) single nucleotide variant Inborn genetic diseases [RCV002832516] Chr18:9525744 [GRCh38]
Chr18:9525742 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.914G>T (p.Arg305Leu) single nucleotide variant Inborn genetic diseases [RCV003209904] Chr18:9522370 [GRCh38]
Chr18:9522368 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1870G>A (p.Gly624Ser) single nucleotide variant Inborn genetic diseases [RCV003192212] Chr18:9535839 [GRCh38]
Chr18:9535837 [GRCh37]
Chr18:18p11.22
likely benign
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1
pathogenic
NM_006788.4(RALBP1):c.1859C>T (p.Pro620Leu) single nucleotide variant Inborn genetic diseases [RCV003188919] Chr18:9535828 [GRCh38]
Chr18:9535826 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.982G>A (p.Val328Ile) single nucleotide variant Inborn genetic diseases [RCV003205205] Chr18:9522438 [GRCh38]
Chr18:9522436 [GRCh37]
Chr18:18p11.22
uncertain significance
NM_006788.4(RALBP1):c.1765G>A (p.Val589Met) single nucleotide variant Inborn genetic diseases [RCV003264637] Chr18:9535734 [GRCh38]
Chr18:9535732 [GRCh37]
Chr18:18p11.22
uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21
pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1
pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2335
Count of miRNA genes:868
Interacting mature miRNAs:1006
Transcripts:ENST00000019317, ENST00000383432, ENST00000458039, ENST00000577221, ENST00000585015
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
D18S910E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,537,865 - 9,538,010UniSTSGRCh37
Build 36189,527,865 - 9,528,010RGDNCBI36
Celera189,422,094 - 9,422,239RGD
Cytogenetic Map18p11.3UniSTS
HuRef189,500,359 - 9,500,504UniSTS
GeneMap99-GB4 RH Map1864.87UniSTS
G43251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,536,524 - 9,536,803UniSTSGRCh37
GRCh373180,043,442 - 180,043,721UniSTSGRCh37
Build 363181,526,136 - 181,526,415RGDNCBI36
Celera189,420,753 - 9,421,032UniSTS
Celera3178,475,325 - 178,475,604RGD
Cytogenetic Map18p11.3UniSTS
HuRef189,499,018 - 9,499,297UniSTS
HuRef3177,447,665 - 177,447,944UniSTS
D18S1082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,497,239 - 9,497,340UniSTSGRCh37
Build 36189,487,239 - 9,487,340RGDNCBI36
Celera189,381,450 - 9,381,551RGD
Cytogenetic Map18p11.3UniSTS
HuRef189,459,702 - 9,459,803UniSTS
SHGC-32001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,537,953 - 9,538,081UniSTSGRCh37
Build 36189,527,953 - 9,528,081RGDNCBI36
Celera189,422,182 - 9,422,310RGD
Cytogenetic Map18p11.3UniSTS
HuRef189,500,447 - 9,500,575UniSTS
Stanford-G3 RH Map18339.0UniSTS
GeneMap99-GB4 RH Map1862.26UniSTS
Whitehead-RH Map1851.7UniSTS
NCBI RH Map18108.7UniSTS
GeneMap99-G3 RH Map18339.0UniSTS
RH80877  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18p11.3UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2158 2247 1309 332 1718 194 4102 1564 2863 387 1222 1587 151 1188 2535 3
Low 279 742 415 292 232 271 255 632 851 32 235 25 23 1 16 253 2 2
Below cutoff 1 1 1 16 3 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_006788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY517554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF794440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ224100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ674032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX352266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L42542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000019317   ⟹   ENSP00000019317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,475,009 - 9,538,114 (+)Ensembl
RefSeq Acc Id: ENST00000383432   ⟹   ENSP00000372924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,475,513 - 9,538,114 (+)Ensembl
RefSeq Acc Id: ENST00000458039   ⟹   ENSP00000411556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,476,127 - 9,517,221 (+)Ensembl
RefSeq Acc Id: ENST00000577221   ⟹   ENSP00000462549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,476,135 - 9,513,056 (+)Ensembl
RefSeq Acc Id: ENST00000585015   ⟹   ENSP00000463693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,475,454 - 9,517,158 (+)Ensembl
RefSeq Acc Id: ENST00000609094   ⟹   ENSP00000492511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,475,670 - 9,520,199 (+)Ensembl
RefSeq Acc Id: NM_006788   ⟹   NP_006779
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,513 - 9,538,114 (+)NCBI
GRCh37189,475,530 - 9,538,106 (+)ENTREZGENE
GRCh37189,475,530 - 9,538,106 (+)NCBI
Build 36189,465,530 - 9,528,106 (+)NCBI Archive
HuRef189,437,998 - 9,500,600 (+)ENTREZGENE
CHM1_1189,475,240 - 9,537,838 (+)NCBI
T2T-CHM13v2.0189,638,883 - 9,701,515 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437278   ⟹   XP_047293234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,009 - 9,538,114 (+)NCBI
RefSeq Acc Id: XM_047437279   ⟹   XP_047293235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,695 - 9,538,114 (+)NCBI
RefSeq Acc Id: XM_047437280   ⟹   XP_047293236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,695 - 9,538,114 (+)NCBI
RefSeq Acc Id: XM_047437281   ⟹   XP_047293237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,695 - 9,538,114 (+)NCBI
RefSeq Acc Id: XM_047437282   ⟹   XP_047293238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,513 - 9,538,114 (+)NCBI
RefSeq Acc Id: XM_047437283   ⟹   XP_047293239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,922 - 9,538,114 (+)NCBI
RefSeq Acc Id: XM_047437284   ⟹   XP_047293240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,695 - 9,538,114 (+)NCBI
RefSeq Acc Id: XM_054318159   ⟹   XP_054174134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,636,797 - 9,701,515 (+)NCBI
RefSeq Acc Id: XM_054318160   ⟹   XP_054174135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,639,095 - 9,701,515 (+)NCBI
RefSeq Acc Id: XM_054318161   ⟹   XP_054174136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,639,070 - 9,701,515 (+)NCBI
RefSeq Acc Id: XM_054318162   ⟹   XP_054174137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,638,883 - 9,701,515 (+)NCBI
Protein Sequences
Protein RefSeqs NP_006779 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293234 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293235 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293236 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293237 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293238 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293239 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293240 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174137 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB00103 (Get FASTA)   NCBI Sequence Viewer  
  AAH13126 (Get FASTA)   NCBI Sequence Viewer  
  AAT44527 (Get FASTA)   NCBI Sequence Viewer  
  BAD93161 (Get FASTA)   NCBI Sequence Viewer  
  BAG62496 (Get FASTA)   NCBI Sequence Viewer  
  EAX01601 (Get FASTA)   NCBI Sequence Viewer  
  EAX01602 (Get FASTA)   NCBI Sequence Viewer  
  EAX01603 (Get FASTA)   NCBI Sequence Viewer  
  EAX01604 (Get FASTA)   NCBI Sequence Viewer  
  EAX01605 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000019317
  ENSP00000019317.4
  ENSP00000372924
  ENSP00000372924.3
  ENSP00000411556.3
  ENSP00000463693.1
  ENSP00000492511.1
GenBank Protein Q15311 (Get FASTA)   NCBI Sequence Viewer  
  SPT35791 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006779   ⟸   NM_006788
- UniProtKB: D3DUI0 (UniProtKB/Swiss-Prot),   Q15311 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000492511   ⟸   ENST00000609094
RefSeq Acc Id: ENSP00000019317   ⟸   ENST00000019317
RefSeq Acc Id: ENSP00000463693   ⟸   ENST00000585015
RefSeq Acc Id: ENSP00000411556   ⟸   ENST00000458039
RefSeq Acc Id: ENSP00000462549   ⟸   ENST00000577221
RefSeq Acc Id: ENSP00000372924   ⟸   ENST00000383432
RefSeq Acc Id: XP_047293234   ⟸   XM_047437278
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293238   ⟸   XM_047437282
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293237   ⟸   XM_047437281
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293235   ⟸   XM_047437279
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293240   ⟸   XM_047437284
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293236   ⟸   XM_047437280
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293239   ⟸   XM_047437283
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174134   ⟸   XM_054318159
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174137   ⟸   XM_054318162
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174136   ⟸   XM_054318161
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174135   ⟸   XM_054318160
- Peptide Label: isoform X1
- UniProtKB: Q15311 (UniProtKB/Swiss-Prot),   D3DUI0 (UniProtKB/Swiss-Prot),   A0A2X0U2N0 (UniProtKB/TrEMBL)
Protein Domains
Rho-GAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15311-F1-model_v2 AlphaFold Q15311 1-655 view protein structure

Promoters
RGD ID:6794974
Promoter ID:HG_KWN:27598
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000019317,   NM_006788
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,464,301 - 9,465,682 (+)MPROMDB
RGD ID:7236915
Promoter ID:EPDNEW_H24204
Type:initiation region
Name:RALBP1_1
Description:ralA binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24205  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,009 - 9,475,069EPDNEW
RGD ID:7236919
Promoter ID:EPDNEW_H24205
Type:initiation region
Name:RALBP1_2
Description:ralA binding protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24204  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,475,516 - 9,475,576EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9841 AgrOrtholog
COSMIC RALBP1 COSMIC
Ensembl Genes ENSG00000017797 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000019317 ENTREZGENE
  ENST00000019317.8 UniProtKB/Swiss-Prot
  ENST00000383432 ENTREZGENE
  ENST00000383432.8 UniProtKB/Swiss-Prot
  ENST00000458039.3 UniProtKB/TrEMBL
  ENST00000585015.6 UniProtKB/TrEMBL
  ENST00000609094.2 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.58.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000017797 GTEx
HGNC ID HGNC:9841 ENTREZGENE
Human Proteome Map RALBP1 Human Proteome Map
InterPro RALBP1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RalBP1-like_Ral-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10928 UniProtKB/Swiss-Prot
NCBI Gene 10928 ENTREZGENE
OMIM 605801 OMIM
PANTHER PTHR12783 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RALA-BINDING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RLIP76_Ral-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34199 PharmGKB, RGD
PROSITE RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PRI7_HUMAN UniProtKB/TrEMBL
  A0A2X0U2N0 ENTREZGENE, UniProtKB/TrEMBL
  D3DUI0 ENTREZGENE
  E7ENF8_HUMAN UniProtKB/TrEMBL
  J3QLT3_HUMAN UniProtKB/TrEMBL
  Q15311 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DUI0 UniProtKB/Swiss-Prot