RADIL (Rap associating with DIL domain) - Rat Genome Database

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Gene: RADIL (Rap associating with DIL domain) Homo sapiens
Analyze
Symbol: RADIL
Name: Rap associating with DIL domain
RGD ID: 1604337
HGNC Page HGNC:22226
Description: Predicted to enable GTPase binding activity. Acts upstream of or within substrate adhesion-dependent cell spreading. Located in microtubule. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ10324; FLJ60975; KIAA1849; MGC161589; Rap GTPase interactor; Ras association and DIL domains; ras-associating and dilute domain-containing protein; RASIP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3874,797,055 - 4,883,716 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl74,797,055 - 4,883,716 (-)EnsemblGRCh38hg38GRCh38
GRCh3774,836,686 - 4,923,347 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3674,805,266 - 4,889,861 (-)NCBINCBI36Build 36hg18NCBI36
Celera74,798,391 - 4,882,417 (-)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef74,755,550 - 4,838,928 (-)NCBIHuRef
CHM1_174,838,485 - 4,923,073 (-)NCBICHM1_1
T2T-CHM13v2.074,914,262 - 5,000,912 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v274,885,095 - 4,969,690 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
genetic disease  (IAGP)
megacolon  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11230166   PMID:11347906   PMID:12477932   PMID:12853948   PMID:14702039   PMID:15146197   PMID:15324660   PMID:15489334   PMID:16051602   PMID:16169070   PMID:16189514   PMID:16344560  
PMID:16713569   PMID:17353931   PMID:17704304   PMID:20048162   PMID:21706016   PMID:21873635   PMID:23097489   PMID:23209302   PMID:23251661   PMID:24163370   PMID:24255178   PMID:25416956  
PMID:26186194   PMID:26780829   PMID:26972000   PMID:28514442   PMID:30561431   PMID:32203420   PMID:32296183   PMID:33482197   PMID:33864728   PMID:33961781   PMID:35271311   PMID:35748872  
PMID:36931259  


Genomics

Comparative Map Data
RADIL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3874,797,055 - 4,883,716 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl74,797,055 - 4,883,716 (-)EnsemblGRCh38hg38GRCh38
GRCh3774,836,686 - 4,923,347 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3674,805,266 - 4,889,861 (-)NCBINCBI36Build 36hg18NCBI36
Celera74,798,391 - 4,882,417 (-)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef74,755,550 - 4,838,928 (-)NCBIHuRef
CHM1_174,838,485 - 4,923,073 (-)NCBICHM1_1
T2T-CHM13v2.074,914,262 - 5,000,912 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v274,885,095 - 4,969,690 (-)NCBI
Radil
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395142,470,594 - 142,536,873 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5142,470,594 - 142,536,853 (-)EnsemblGRCm39 Ensembl
GRCm385142,483,795 - 142,551,098 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5142,484,839 - 142,551,098 (-)EnsemblGRCm38mm10GRCm38
MGSCv375142,960,795 - 143,027,031 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365142,737,315 - 142,803,551 (-)NCBIMGSCv36mm8
Celera5139,539,520 - 139,606,082 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map581.53NCBI
Radil
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81217,137,872 - 17,202,021 (+)NCBIGRCr8
mRatBN7.21212,024,395 - 12,088,540 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1212,024,395 - 12,088,540 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1212,826,887 - 12,890,790 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01213,450,118 - 13,514,021 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01212,481,238 - 12,545,147 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01214,092,541 - 14,156,704 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1214,092,541 - 14,156,704 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01216,120,532 - 16,185,309 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41212,420,877 - 12,485,651 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11212,450,944 - 12,515,270 (+)NCBI
Celera1213,807,057 - 13,871,056 (+)NCBICelera
Cytogenetic Map12p11NCBI
Radil
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546010,931,901 - 10,994,178 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546010,906,944 - 10,990,369 (+)NCBIChiLan1.0ChiLan1.0
RADIL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v269,765,330 - 9,849,949 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1758,090,038 - 58,174,653 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v075,051,784 - 5,136,345 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.175,092,131 - 5,130,716 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl75,092,131 - 5,130,716 (-)Ensemblpanpan1.1panPan2
LOC479761
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1612,718,243 - 12,845,186 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl612,717,693 - 12,845,196 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha614,188,679 - 14,316,046 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0612,854,072 - 12,981,532 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl612,853,662 - 12,981,542 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1612,664,990 - 12,792,207 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0612,597,907 - 12,725,235 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0612,900,295 - 13,001,428 (+)NCBIUU_Cfam_GSD_1.0
Radil
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344141,029,892 - 141,113,057 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367651,051,351 - 1,104,618 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367651,050,471 - 1,104,117 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RADIL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl33,641,112 - 3,716,141 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.133,642,294 - 3,716,139 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.234,292,918 - 4,366,769 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RADIL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12816,765,646 - 16,846,934 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2816,771,061 - 16,846,664 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660905,072,668 - 5,154,585 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in RADIL
92 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.2-22.1(chr7:4469558-5111872)x3 copy number gain See cases [RCV000050969] Chr7:4469558..5111872 [GRCh38]
Chr7:4509189..5151503 [GRCh37]
Chr7:4475715..5118029 [NCBI36]
Chr7:7p22.2-22.1
uncertain significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.1(chr7:4532619-5378373)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052255]|See cases [RCV000052255] Chr7:4532619..5378373 [GRCh38]
Chr7:4572250..5418004 [GRCh37]
Chr7:4538776..5384530 [NCBI36]
Chr7:7p22.1
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3 copy number gain See cases [RCV000053408] Chr7:4876621..6492003 [GRCh38]
Chr7:4916252..6531634 [GRCh37]
Chr7:4882778..6498159 [NCBI36]
Chr7:7p22.1
uncertain significance
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_018059.4(RADIL):c.279G>A (p.Val93=) single nucleotide variant Malignant melanoma [RCV000067900] Chr7:4877861 [GRCh38]
Chr7:4917492 [GRCh37]
Chr7:4884018 [NCBI36]
Chr7:7p22.1
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3 copy number gain See cases [RCV000137977] Chr7:4849987..5760088 [GRCh38]
Chr7:4889618..5799719 [GRCh37]
Chr7:4856144..5766245 [NCBI36]
Chr7:7p22.1
likely pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh37/hg19 7p22.1(chr7:4560890-5028707)x1 copy number loss See cases [RCV000240179] Chr7:4560890..5028707 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.1(chr7:4743281-5163491)x1 copy number loss See cases [RCV000448545] Chr7:4743281..5163491 [GRCh37]
Chr7:7p22.1
likely benign
GRCh37/hg19 7p22.1(chr7:4756391-5934779)x3 copy number gain See cases [RCV000448466] Chr7:4756391..5934779 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1
likely pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.2-22.1(chr7:4412278-4933853)x3 copy number gain See cases [RCV000510795] Chr7:4412278..4933853 [GRCh37]
Chr7:7p22.2-22.1
uncertain significance
NM_020144.5(PAPOLB):c.1292T>C (p.Met431Thr) single nucleotide variant Inborn genetic diseases [RCV003255604] Chr7:4860519 [GRCh38]
Chr7:4900150 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2582G>A (p.Arg861Gln) single nucleotide variant Inborn genetic diseases [RCV003251914] Chr7:4801913 [GRCh38]
Chr7:4841544 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1562A>G (p.Asp521Gly) single nucleotide variant Inborn genetic diseases [RCV003284910] Chr7:4860249 [GRCh38]
Chr7:4899880 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1309A>T (p.Met437Leu) single nucleotide variant Inborn genetic diseases [RCV003285454] Chr7:4860502 [GRCh38]
Chr7:4900133 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1000A>G (p.Thr334Ala) single nucleotide variant Inborn genetic diseases [RCV003277412] Chr7:4860811 [GRCh38]
Chr7:4900442 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2642C>A (p.Pro881His) single nucleotide variant Inborn genetic diseases [RCV003279941] Chr7:4801853 [GRCh38]
Chr7:4841484 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:1201674-5175651)x1 copy number loss See cases [RCV000512351] Chr7:1201674..5175651 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.1(chr7:4644965-5436368)x3 copy number gain See cases [RCV000663395] Chr7:4644965..5436368 [GRCh37]
Chr7:7p22.1
likely pathogenic
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.1(chr7:4798726-4854998)x3 copy number gain not provided [RCV000746381] Chr7:4798726..4854998 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4799694-4845701)x3 copy number gain not provided [RCV000746382] Chr7:4799694..4845701 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4821300-4839265)x3 copy number gain not provided [RCV000746383] Chr7:4821300..4839265 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4821300-4839882)x3 copy number gain not provided [RCV000746384] Chr7:4821300..4839882 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4821300-4854998)x1 copy number loss not provided [RCV000746385] Chr7:4821300..4854998 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4821300-4855994)x3 copy number gain not provided [RCV000746386] Chr7:4821300..4855994 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4821332-4876055)x3 copy number gain not provided [RCV000746387] Chr7:4821332..4876055 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4823392-4845701)x1 copy number loss not provided [RCV000746388] Chr7:4823392..4845701 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4823971-4842603)x0 copy number loss not provided [RCV000746389] Chr7:4823971..4842603 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4823971-4845248)x1 copy number loss not provided [RCV000746390] Chr7:4823971..4845248 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4824622-4841553)x1 copy number loss not provided [RCV000746391] Chr7:4824622..4841553 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4824622-4876055)x3 copy number gain not provided [RCV000746392] Chr7:4824622..4876055 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4830379-4854998)x4 copy number gain not provided [RCV000746393] Chr7:4830379..4854998 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4839025-4854998)x4 copy number gain not provided [RCV000746394] Chr7:4839025..4854998 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4839837-4845701)x4 copy number gain not provided [RCV000746395] Chr7:4839837..4845701 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4839837-4854998)x4 copy number gain not provided [RCV000746396] Chr7:4839837..4854998 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4839882-4854998)x4 copy number gain not provided [RCV000746397] Chr7:4839882..4854998 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4839893-4843335)x4 copy number gain not provided [RCV000746398] Chr7:4839893..4843335 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4842117-4842927)x1 copy number loss not provided [RCV000746399] Chr7:4842117..4842927 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4842117-4843035)x1 copy number loss not provided [RCV000746400] Chr7:4842117..4843035 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.1(chr7:4859257-5167160)x3 copy number gain not provided [RCV000746401] Chr7:4859257..5167160 [GRCh37]
Chr7:7p22.1
benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_018059.5(RADIL):c.2996G>A (p.Gly999Asp) single nucleotide variant Inborn genetic diseases [RCV003267726] Chr7:4799756 [GRCh38]
Chr7:4839387 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_018059.5(RADIL):c.1749G>A (p.Pro583=) single nucleotide variant not provided [RCV000963882] Chr7:4816445 [GRCh38]
Chr7:4856076 [GRCh37]
Chr7:7p22.1
benign
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_020144.5(PAPOLB):c.79A>G (p.Ile27Val) single nucleotide variant Inborn genetic diseases [RCV003248375] Chr7:4861732 [GRCh38]
Chr7:4901363 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2100C>T (p.Thr700=) single nucleotide variant not provided [RCV000914777] Chr7:4815317 [GRCh38]
Chr7:4854948 [GRCh37]
Chr7:7p22.1
likely benign
GRCh37/hg19 7p22.1(chr7:4807055-4930807)x1 copy number loss not provided [RCV000845657] Chr7:4807055..4930807 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
NM_020144.5(PAPOLB):c.7C>T (p.Pro3Ser) single nucleotide variant Inborn genetic diseases [RCV003240116] Chr7:4861804 [GRCh38]
Chr7:4901435 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1778C>G (p.Thr593Arg) single nucleotide variant Inborn genetic diseases [RCV003248605] Chr7:4816416 [GRCh38]
Chr7:4856047 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.682G>A (p.Ala228Thr) single nucleotide variant Inborn genetic diseases [RCV003290346] Chr7:4836459 [GRCh38]
Chr7:4876090 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.571C>T (p.Arg191Cys) single nucleotide variant Inborn genetic diseases [RCV003240496] Chr7:4836570 [GRCh38]
Chr7:4876201 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.868G>C (p.Glu290Gln) single nucleotide variant Inborn genetic diseases [RCV003242403] Chr7:4860943 [GRCh38]
Chr7:4900574 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3072C>T (p.Asp1024=) single nucleotide variant not provided [RCV000956457] Chr7:4799680 [GRCh38]
Chr7:4839311 [GRCh37]
Chr7:7p22.1
benign
NM_018059.5(RADIL):c.2013C>T (p.Cys671=) single nucleotide variant not provided [RCV000956458] Chr7:4815404 [GRCh38]
Chr7:4855035 [GRCh37]
Chr7:7p22.1
likely benign
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.2-22.1(chr7:4457599-5138409)x3 copy number gain not provided [RCV001259990] Chr7:4457599..5138409 [GRCh37]
Chr7:7p22.2-22.1
uncertain significance
GRCh37/hg19 7p22.1(chr7:4733073-5157165)x3 copy number gain not provided [RCV001259438] Chr7:4733073..5157165 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3160C>T (p.Arg1054Trp) single nucleotide variant Inborn genetic diseases [RCV003197658] Chr7:4799446 [GRCh38]
Chr7:4839077 [GRCh37]
Chr7:7p22.1
uncertain significance
NC_000007.13:g.4736454_4860123dup duplication Megacolon [RCV001290076] Chr7:4736454..4860123 [GRCh37]
Chr7:7p22.1
uncertain significance
NC_000007.13:g.(?_4815347)_(5792630_?)dup duplication Baraitser-Winter syndrome 1 [RCV001978085] Chr7:4815347..5792630 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.319G>C (p.Ala107Pro) single nucleotide variant Inborn genetic diseases [RCV003253427] Chr7:4877821 [GRCh38]
Chr7:4917452 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_018059.5(RADIL):c.725G>A (p.Arg242Gln) single nucleotide variant Inborn genetic diseases [RCV003298011] Chr7:4836416 [GRCh38]
Chr7:4876047 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.434A>G (p.Lys145Arg) single nucleotide variant Inborn genetic diseases [RCV003305230] Chr7:4861377 [GRCh38]
Chr7:4901008 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.159C>G (p.Phe53Leu) single nucleotide variant Inborn genetic diseases [RCV002992372] Chr7:4861652 [GRCh38]
Chr7:4901283 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3043G>A (p.Ala1015Thr) single nucleotide variant Inborn genetic diseases [RCV002727974] Chr7:4799709 [GRCh38]
Chr7:4839340 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2225C>T (p.Ser742Leu) single nucleotide variant Inborn genetic diseases [RCV002906611] Chr7:4805631 [GRCh38]
Chr7:4845262 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.587C>T (p.Pro196Leu) single nucleotide variant Inborn genetic diseases [RCV002990286] Chr7:4836554 [GRCh38]
Chr7:4876185 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2267A>G (p.Asp756Gly) single nucleotide variant Inborn genetic diseases [RCV002772028] Chr7:4805589 [GRCh38]
Chr7:4845220 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.1(chr7:4868426-5184301)x3 copy number gain not provided [RCV002475697] Chr7:4868426..5184301 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1770A>C (p.Leu590Phe) single nucleotide variant Inborn genetic diseases [RCV002684786] Chr7:4860041 [GRCh38]
Chr7:4899672 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1217T>C (p.Leu406Pro) single nucleotide variant Inborn genetic diseases [RCV002907216] Chr7:4834806 [GRCh38]
Chr7:4874437 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.311A>C (p.Tyr104Ser) single nucleotide variant Inborn genetic diseases [RCV002772689] Chr7:4861500 [GRCh38]
Chr7:4901131 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1 copy number loss not provided [RCV002475747] Chr7:4655928..5990874 [GRCh37]
Chr7:7p22.1
pathogenic
NM_018059.5(RADIL):c.2432G>A (p.Arg811Gln) single nucleotide variant Inborn genetic diseases [RCV002708106] Chr7:4803613 [GRCh38]
Chr7:4843244 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1715C>T (p.Ala572Val) single nucleotide variant Inborn genetic diseases [RCV002762764] Chr7:4860096 [GRCh38]
Chr7:4899727 [GRCh37]
Chr7:7p22.1
likely benign
NM_018059.5(RADIL):c.365C>T (p.Ala122Val) single nucleotide variant Inborn genetic diseases [RCV002888087] Chr7:4877775 [GRCh38]
Chr7:4917406 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.558A>T (p.Arg186Ser) single nucleotide variant Inborn genetic diseases [RCV002845744] Chr7:4861253 [GRCh38]
Chr7:4900884 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1680G>T (p.Leu560Phe) single nucleotide variant Inborn genetic diseases [RCV002693576] Chr7:4860131 [GRCh38]
Chr7:4899762 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3212G>A (p.Arg1071His) single nucleotide variant Inborn genetic diseases [RCV002951722] Chr7:4799394 [GRCh38]
Chr7:4839025 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.190G>C (p.Val64Leu) single nucleotide variant Inborn genetic diseases [RCV003001309] Chr7:4877950 [GRCh38]
Chr7:4917581 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.143C>T (p.Ala48Val) single nucleotide variant Inborn genetic diseases [RCV002950711] Chr7:4877997 [GRCh38]
Chr7:4917628 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1384C>A (p.Gln462Lys) single nucleotide variant Inborn genetic diseases [RCV002757769] Chr7:4860427 [GRCh38]
Chr7:4900058 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3038C>T (p.Pro1013Leu) single nucleotide variant Inborn genetic diseases [RCV002691296] Chr7:4799714 [GRCh38]
Chr7:4839345 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2431C>T (p.Arg811Trp) single nucleotide variant Inborn genetic diseases [RCV002738608] Chr7:4803614 [GRCh38]
Chr7:4843245 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.979G>A (p.Val327Ile) single nucleotide variant Inborn genetic diseases [RCV002911943] Chr7:4835044 [GRCh38]
Chr7:4874675 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3217C>T (p.Pro1073Ser) single nucleotide variant Inborn genetic diseases [RCV002693588] Chr7:4799389 [GRCh38]
Chr7:4839020 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1649C>T (p.Thr550Met) single nucleotide variant Inborn genetic diseases [RCV002641971] Chr7:4817318 [GRCh38]
Chr7:4856949 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1843G>A (p.Val615Ile) single nucleotide variant Inborn genetic diseases [RCV002764269] Chr7:4859968 [GRCh38]
Chr7:4899599 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2413C>T (p.His805Tyr) single nucleotide variant Inborn genetic diseases [RCV002919666] Chr7:4803632 [GRCh38]
Chr7:4843263 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.938T>G (p.Leu313Arg) single nucleotide variant Inborn genetic diseases [RCV002645219] Chr7:4860873 [GRCh38]
Chr7:4900504 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2596G>C (p.Glu866Gln) single nucleotide variant Inborn genetic diseases [RCV002981988] Chr7:4801899 [GRCh38]
Chr7:4841530 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.14C>T (p.Thr5Met) single nucleotide variant Inborn genetic diseases [RCV002763978] Chr7:4878126 [GRCh38]
Chr7:4917757 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1282A>G (p.Asn428Asp) single nucleotide variant Inborn genetic diseases [RCV002850605] Chr7:4860529 [GRCh38]
Chr7:4900160 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1441A>G (p.Lys481Glu) single nucleotide variant Inborn genetic diseases [RCV002764360] Chr7:4832154 [GRCh38]
Chr7:4871785 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1495C>T (p.Pro499Ser) single nucleotide variant Inborn genetic diseases [RCV002916404] Chr7:4860316 [GRCh38]
Chr7:4899947 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.524C>T (p.Ala175Val) single nucleotide variant Inborn genetic diseases [RCV002802415] Chr7:4861287 [GRCh38]
Chr7:4900918 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1831C>T (p.Arg611Cys) single nucleotide variant Inborn genetic diseases [RCV002743794] Chr7:4816363 [GRCh38]
Chr7:4855994 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.961C>G (p.Pro321Ala) single nucleotide variant Inborn genetic diseases [RCV002709551] Chr7:4835062 [GRCh38]
Chr7:4874693 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.619C>T (p.Pro207Ser) single nucleotide variant Inborn genetic diseases [RCV002878886] Chr7:4836522 [GRCh38]
Chr7:4876153 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2158C>T (p.Arg720Trp) single nucleotide variant Inborn genetic diseases [RCV002939227] Chr7:4805698 [GRCh38]
Chr7:4845329 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2216A>G (p.Gln739Arg) single nucleotide variant Inborn genetic diseases [RCV002769850] Chr7:4805640 [GRCh38]
Chr7:4845271 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.905G>T (p.Arg302Leu) single nucleotide variant Inborn genetic diseases [RCV002896601] Chr7:4835118 [GRCh38]
Chr7:4874749 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2660G>A (p.Arg887His) single nucleotide variant Inborn genetic diseases [RCV003010517] Chr7:4801835 [GRCh38]
Chr7:4841466 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2659C>T (p.Arg887Cys) single nucleotide variant Inborn genetic diseases [RCV002877831] Chr7:4801836 [GRCh38]
Chr7:4841467 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1847C>A (p.Ser616Tyr) single nucleotide variant Inborn genetic diseases [RCV002935518] Chr7:4859964 [GRCh38]
Chr7:4899595 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1259A>G (p.Gln420Arg) single nucleotide variant Inborn genetic diseases [RCV002670444] Chr7:4860552 [GRCh38]
Chr7:4900183 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2053G>A (p.Gly685Ser) single nucleotide variant Inborn genetic diseases [RCV002768729] Chr7:4815364 [GRCh38]
Chr7:4854995 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1448C>T (p.Ala483Val) single nucleotide variant Inborn genetic diseases [RCV002669179] Chr7:4832147 [GRCh38]
Chr7:4871778 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2684C>T (p.Pro895Leu) single nucleotide variant Inborn genetic diseases [RCV002674032] Chr7:4801811 [GRCh38]
Chr7:4841442 [GRCh37]
Chr7:7p22.1
likely benign
NM_018059.5(RADIL):c.1937C>T (p.Thr646Ile) single nucleotide variant Inborn genetic diseases [RCV002649191] Chr7:4816257 [GRCh38]
Chr7:4855888 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3145G>A (p.Gly1049Ser) single nucleotide variant Inborn genetic diseases [RCV002703514] Chr7:4799461 [GRCh38]
Chr7:4839092 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1335G>T (p.Gln445His) single nucleotide variant Inborn genetic diseases [RCV002941252] Chr7:4834688 [GRCh38]
Chr7:4874319 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.407C>G (p.Ala136Gly) single nucleotide variant Inborn genetic diseases [RCV002668839] Chr7:4861404 [GRCh38]
Chr7:4901035 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3018G>C (p.Gln1006His) single nucleotide variant Inborn genetic diseases [RCV002941119] Chr7:4799734 [GRCh38]
Chr7:4839365 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1459A>G (p.Met487Val) single nucleotide variant Inborn genetic diseases [RCV002936439] Chr7:4860352 [GRCh38]
Chr7:4899983 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2600G>A (p.Arg867His) single nucleotide variant Inborn genetic diseases [RCV002722899] Chr7:4801895 [GRCh38]
Chr7:4841526 [GRCh37]
Chr7:7p22.1
likely benign
NM_018059.5(RADIL):c.2896T>G (p.Ser966Ala) single nucleotide variant Inborn genetic diseases [RCV002677951] Chr7:4800257 [GRCh38]
Chr7:4839888 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3107G>A (p.Gly1036Asp) single nucleotide variant Inborn genetic diseases [RCV002724323] Chr7:4799645 [GRCh38]
Chr7:4839276 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1804G>A (p.Ala602Thr) single nucleotide variant Inborn genetic diseases [RCV002679404] Chr7:4816390 [GRCh38]
Chr7:4856021 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.929G>A (p.Arg310Lys) single nucleotide variant Inborn genetic diseases [RCV003278059] Chr7:4860882 [GRCh38]
Chr7:4900513 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.4T>C (p.Phe2Leu) single nucleotide variant Inborn genetic diseases [RCV003256156] Chr7:4878136 [GRCh38]
Chr7:4917767 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1063T>C (p.Phe355Leu) single nucleotide variant Inborn genetic diseases [RCV003198859] Chr7:4834960 [GRCh38]
Chr7:4874591 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.17A>G (p.His6Arg) single nucleotide variant Inborn genetic diseases [RCV003180728] Chr7:4878123 [GRCh38]
Chr7:4917754 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3056G>A (p.Arg1019His) single nucleotide variant Inborn genetic diseases [RCV003183984] Chr7:4799696 [GRCh38]
Chr7:4839327 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2983C>A (p.His995Asn) single nucleotide variant Inborn genetic diseases [RCV003200545] Chr7:4799769 [GRCh38]
Chr7:4839400 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3220C>T (p.Pro1074Ser) single nucleotide variant Inborn genetic diseases [RCV003180303] Chr7:4799386 [GRCh38]
Chr7:4839017 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2681C>T (p.Pro894Leu) single nucleotide variant Inborn genetic diseases [RCV003194710] Chr7:4801814 [GRCh38]
Chr7:4841445 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1852A>G (p.Thr618Ala) single nucleotide variant Inborn genetic diseases [RCV003189283] Chr7:4859959 [GRCh38]
Chr7:4899590 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2641C>A (p.Pro881Thr) single nucleotide variant Inborn genetic diseases [RCV003197409] Chr7:4801854 [GRCh38]
Chr7:4841485 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.1597A>C (p.Ser533Arg) single nucleotide variant Inborn genetic diseases [RCV003205751] Chr7:4860214 [GRCh38]
Chr7:4899845 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.3218C>T (p.Pro1073Leu) single nucleotide variant Inborn genetic diseases [RCV003179965] Chr7:4799388 [GRCh38]
Chr7:4839019 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1886A>T (p.His629Leu) single nucleotide variant Inborn genetic diseases [RCV003193657] Chr7:4816308 [GRCh38]
Chr7:4855939 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2711C>T (p.Thr904Met) single nucleotide variant Inborn genetic diseases [RCV003191775] Chr7:4801784 [GRCh38]
Chr7:4841415 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2947C>T (p.Pro983Ser) single nucleotide variant Inborn genetic diseases [RCV003340260] Chr7:4800206 [GRCh38]
Chr7:4839837 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2410C>T (p.Arg804Cys) single nucleotide variant Inborn genetic diseases [RCV003340148] Chr7:4803635 [GRCh38]
Chr7:4843266 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.603C>G (p.Ser201Arg) single nucleotide variant Inborn genetic diseases [RCV003360540] Chr7:4861208 [GRCh38]
Chr7:4900839 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.8C>T (p.Pro3Leu) single nucleotide variant Inborn genetic diseases [RCV003344926] Chr7:4861803 [GRCh38]
Chr7:4901434 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.337G>A (p.Ala113Thr) single nucleotide variant Inborn genetic diseases [RCV003344764] Chr7:4861474 [GRCh38]
Chr7:4901105 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.1834G>A (p.Val612Met) single nucleotide variant Inborn genetic diseases [RCV003352023] Chr7:4816360 [GRCh38]
Chr7:4855991 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2018G>A (p.Arg673His) single nucleotide variant Inborn genetic diseases [RCV003363234] Chr7:4815399 [GRCh38]
Chr7:4855030 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2905G>A (p.Glu969Lys) single nucleotide variant Inborn genetic diseases [RCV003377221] Chr7:4800248 [GRCh38]
Chr7:4839879 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.886C>A (p.Leu296Ile) single nucleotide variant Inborn genetic diseases [RCV003363464] Chr7:4860925 [GRCh38]
Chr7:4900556 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.686A>G (p.Lys229Arg) single nucleotide variant Inborn genetic diseases [RCV003363540] Chr7:4861125 [GRCh38]
Chr7:4900756 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.2371T>C (p.Cys791Arg) single nucleotide variant Inborn genetic diseases [RCV003354094] Chr7:4803674 [GRCh38]
Chr7:4843305 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.272T>C (p.Ile91Thr) single nucleotide variant Inborn genetic diseases [RCV003364060] Chr7:4861539 [GRCh38]
Chr7:4901170 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_018059.5(RADIL):c.493G>A (p.Val165Met) single nucleotide variant Inborn genetic diseases [RCV003353302] Chr7:4877647 [GRCh38]
Chr7:4917278 [GRCh37]
Chr7:7p22.1
uncertain significance
NM_020144.5(PAPOLB):c.595A>G (p.Ile199Val) single nucleotide variant Inborn genetic diseases [RCV003351295] Chr7:4861216 [GRCh38]
Chr7:4900847 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.1(chr7:4909470-5331753)x3 copy number gain not provided [RCV003484675] Chr7:4909470..5331753 [GRCh37]
Chr7:7p22.1
uncertain significance
GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3 copy number gain not provided [RCV003484666] Chr7:43361..5965440 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
NM_018059.5(RADIL):c.2743G>T (p.Gly915Trp) single nucleotide variant not provided [RCV003423533] Chr7:4801752 [GRCh38]
Chr7:4841383 [GRCh37]
Chr7:7p22.1
likely benign
NM_018059.5(RADIL):c.709G>C (p.Gly237Arg) single nucleotide variant not provided [RCV003423535] Chr7:4836432 [GRCh38]
Chr7:4876063 [GRCh37]
Chr7:7p22.1
likely benign
NM_018059.5(RADIL):c.345G>C (p.Val115=) single nucleotide variant not provided [RCV003423537] Chr7:4877795 [GRCh38]
Chr7:4917426 [GRCh37]
Chr7:7p22.1
likely benign
NM_018059.5(RADIL):c.897C>T (p.Thr299=) single nucleotide variant not provided [RCV003423534] Chr7:4835126 [GRCh38]
Chr7:4874757 [GRCh37]
Chr7:7p22.1
likely benign
NM_018059.5(RADIL):c.2605C>G (p.Leu869Val) single nucleotide variant not provided [RCV003433735] Chr7:4801890 [GRCh38]
Chr7:4841521 [GRCh37]
Chr7:7p22.1
likely benign
NM_020144.5(PAPOLB):c.300G>C (p.Thr100=) single nucleotide variant not provided [RCV003423536] Chr7:4861511 [GRCh38]
Chr7:4901142 [GRCh37]
Chr7:7p22.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5481
Count of miRNA genes:1152
Interacting mature miRNAs:1480
Transcripts:ENST00000399583, ENST00000445392, ENST00000457174, ENST00000469399, ENST00000472999, ENST00000473130, ENST00000484211, ENST00000536091, ENST00000538469
Prediction methods: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
GDB:1318549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3774,891,324 - 4,891,686UniSTSGRCh37
Build 3674,857,850 - 4,858,212RGDNCBI36
Celera74,850,412 - 4,850,774RGD
Cytogenetic Map7p22.1UniSTS
HuRef74,806,933 - 4,807,295UniSTS
CRA_TCAGchr7v274,937,679 - 4,938,041UniSTS
SHGC-155747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3774,863,107 - 4,863,395UniSTSGRCh37
Build 3674,829,633 - 4,829,921RGDNCBI36
Celera74,822,194 - 4,822,482RGD
Cytogenetic Map7p22.1UniSTS
HuRef74,778,939 - 4,779,227UniSTS
CRA_TCAGchr7v274,909,462 - 4,909,750UniSTS
TNG Radiation Hybrid Map72453.0UniSTS
PAPOLB_3611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3774,899,416 - 4,900,322UniSTSGRCh37
Build 3674,865,942 - 4,866,848RGDNCBI36
Celera74,858,504 - 4,859,410RGD
HuRef74,815,026 - 4,815,932UniSTS
CRA_TCAGchr7v274,945,771 - 4,946,677UniSTS


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 20 17 34 1 1 1 533 21 1014 3 398 134 10 519
Low 2137 2202 1085 185 500 34 3732 2121 2690 137 954 1387 160 1 1194 2240 2 1
Below cutoff 231 757 532 369 1142 362 89 53 28 243 100 78 14 29 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB058752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG722917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ942667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN365550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA241653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000399583   ⟹   ENSP00000382492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,797,055 - 4,883,716 (-)Ensembl
RefSeq Acc Id: ENST00000445392   ⟹   ENSP00000413403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,797,055 - 4,883,654 (-)Ensembl
RefSeq Acc Id: ENST00000457174   ⟹   ENSP00000398057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,877,738 - 4,882,209 (-)Ensembl
RefSeq Acc Id: ENST00000469399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,805,245 - 4,815,333 (-)Ensembl
RefSeq Acc Id: ENST00000472999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,799,105 - 4,804,068 (-)Ensembl
RefSeq Acc Id: ENST00000473130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,799,109 - 4,832,209 (-)Ensembl
RefSeq Acc Id: ENST00000484211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl74,815,278 - 4,832,219 (-)Ensembl
RefSeq Acc Id: NM_018059   ⟹   NP_060529
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3874,797,055 - 4,883,716 (-)NCBI
GRCh3774,838,736 - 4,923,335 (-)NCBI
Build 3674,805,266 - 4,889,861 (-)NCBI Archive
Celera74,798,391 - 4,882,417 (-)RGD
HuRef74,755,550 - 4,838,928 (-)RGD
CHM1_174,838,485 - 4,923,073 (-)NCBI
T2T-CHM13v2.074,914,262 - 5,000,912 (-)NCBI
CRA_TCAGchr7v274,885,095 - 4,969,690 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_060529   ⟸   NM_018059
- UniProtKB: Q9NW43 (UniProtKB/Swiss-Prot),   Q9H0M6 (UniProtKB/Swiss-Prot),   Q9BSP5 (UniProtKB/Swiss-Prot),   Q75LH3 (UniProtKB/Swiss-Prot),   Q0VFZ9 (UniProtKB/Swiss-Prot),   B7ZL20 (UniProtKB/Swiss-Prot),   A5YM49 (UniProtKB/Swiss-Prot),   A4D1Z5 (UniProtKB/Swiss-Prot),   Q9NWC4 (UniProtKB/Swiss-Prot),   Q96JH8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000382492   ⟸   ENST00000399583
RefSeq Acc Id: ENSP00000398057   ⟸   ENST00000457174
RefSeq Acc Id: ENSP00000413403   ⟸   ENST00000445392
Protein Domains
Dilute   FHA   PDZ   Ras-associating

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96JH8-F1-model_v2 AlphaFold Q96JH8 1-1075 view protein structure

Promoters
RGD ID:6806133
Promoter ID:HG_KWN:56115
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562
Transcripts:ENST00000316919,   OTTHUMT00000323768,   UC003SNG.1,   UC003SNJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3674,889,559 - 4,890,059 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22226 AgrOrtholog
COSMIC RADIL COSMIC
Ensembl Genes ENSG00000157927 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000399583 ENTREZGENE
  ENST00000399583.4 UniProtKB/Swiss-Prot
  ENST00000445392.5 UniProtKB/TrEMBL
  ENST00000457174.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot
  2.60.200.20 UniProtKB/Swiss-Prot
GTEx ENSG00000157927 GTEx
HGNC ID HGNC:22226 ENTREZGENE
Human Proteome Map RADIL Human Proteome Map
InterPro CBD_Rasip1/Radil UniProtKB/Swiss-Prot
  Dilute_dom UniProtKB/Swiss-Prot
  FHA_dom UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
  RA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55698 UniProtKB/Swiss-Prot
NCBI Gene 55698 ENTREZGENE
OMIM 611491 OMIM
PANTHER DILUTE DOMAIN-CONTAINING PROTEIN YPR089W UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS-ASSOCIATING AND DILUTE DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DIL UniProtKB/Swiss-Prot
  FHA UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  PF00788 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164725261 PharmGKB
PROSITE DILUTE UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  PS50200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DIL UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  SM00314 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot
  SSF50156 UniProtKB/Swiss-Prot
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D1Z5 ENTREZGENE
  A5YM49 ENTREZGENE
  B7ZL20 ENTREZGENE
  C9J7G0_HUMAN UniProtKB/TrEMBL
  F8WEM1_HUMAN UniProtKB/TrEMBL
  Q0VFZ9 ENTREZGENE
  Q75LH3 ENTREZGENE
  Q96JH8 ENTREZGENE
  Q9BSP5 ENTREZGENE
  Q9H0M6 ENTREZGENE
  Q9NW43 ENTREZGENE
  Q9NWC4 ENTREZGENE
  RADIL_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A4D1Z5 UniProtKB/Swiss-Prot
  A5YM49 UniProtKB/Swiss-Prot
  B7ZL20 UniProtKB/Swiss-Prot
  Q0VFZ9 UniProtKB/Swiss-Prot
  Q75LH3 UniProtKB/Swiss-Prot
  Q9BSP5 UniProtKB/Swiss-Prot
  Q9H0M6 UniProtKB/Swiss-Prot
  Q9NW43 UniProtKB/Swiss-Prot
  Q9NWC4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 RADIL  Rap associating with DIL domain    Ras association and DIL domains  Symbol and/or name change 5135510 APPROVED