NKIRAS1 (NFKB inhibitor interacting Ras like 1) - Rat Genome Database

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Gene: NKIRAS1 (NFKB inhibitor interacting Ras like 1) Homo sapiens
Analyze
Symbol: NKIRAS1
Name: NFKB inhibitor interacting Ras like 1
RGD ID: 1318403
HGNC Page HGNC:17899
Description: Predicted to enable GTPase activating protein binding activity. Predicted to be involved in Ral protein signal transduction. Predicted to act upstream of or within lung alveolus development; regulation of tumor necrosis factor-mediated signaling pathway; and surfactant homeostasis. Located in cytosol and endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: I-kappa-B-interacting Ras-like protein 1; kappa B-ras 1; kappa B-Ras protein 1; kappaB-Ras1; KBRAS1; NF-kappa-B inhibitor-interacting Ras-like protein 1; NFKB inhibitor interacting Ras-like 1; NFKB inhibitor interacting Ras-like protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38323,889,951 - 23,946,562 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl323,889,951 - 23,946,591 (-)EnsemblGRCh38hg38GRCh38
GRCh37323,931,442 - 23,988,053 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36323,908,576 - 23,933,541 (-)NCBINCBI36Build 36hg18NCBI36
Build 34323,908,575 - 23,933,541NCBI
Celera323,869,757 - 23,894,727 (-)NCBICelera
Cytogenetic Map3p24.2NCBI
HuRef323,879,660 - 23,904,631 (-)NCBIHuRef
CHM1_1323,885,392 - 23,910,352 (-)NCBICHM1_1
T2T-CHM13v2.0323,894,728 - 23,951,314 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10657303   PMID:12477932   PMID:12672800   PMID:14702039   PMID:15024091   PMID:15489334   PMID:15761153   PMID:16344560   PMID:18434448   PMID:20693965   PMID:21302000   PMID:21832049  
PMID:21873635   PMID:21988832   PMID:23156677   PMID:24927181   PMID:25869366   PMID:28514442   PMID:28986522   PMID:30021884   PMID:33961781   PMID:37931099  


Genomics

Comparative Map Data
NKIRAS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38323,889,951 - 23,946,562 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl323,889,951 - 23,946,591 (-)EnsemblGRCh38hg38GRCh38
GRCh37323,931,442 - 23,988,053 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36323,908,576 - 23,933,541 (-)NCBINCBI36Build 36hg18NCBI36
Build 34323,908,575 - 23,933,541NCBI
Celera323,869,757 - 23,894,727 (-)NCBICelera
Cytogenetic Map3p24.2NCBI
HuRef323,879,660 - 23,904,631 (-)NCBIHuRef
CHM1_1323,885,392 - 23,910,352 (-)NCBICHM1_1
T2T-CHM13v2.0323,894,728 - 23,951,314 (-)NCBIT2T-CHM13v2.0
Nkiras1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39144,185,693 - 4,198,560 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl144,185,693 - 4,198,560 (-)EnsemblGRCm39 Ensembl
GRCm381418,271,136 - 18,284,003 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1418,271,136 - 18,284,003 (+)EnsemblGRCm38mm10GRCm38
MGSCv371419,103,656 - 19,116,517 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361417,064,260 - 17,077,121 (+)NCBIMGSCv36mm8
Celera1413,963,372 - 13,975,560 (+)NCBICelera
Cytogenetic Map14A1NCBI
cM Map147.08NCBI
Nkiras1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8159,924,316 - 9,934,538 (-)NCBIGRCr8
mRatBN7.2157,493,531 - 7,503,758 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl157,493,531 - 7,503,854 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx159,639,240 - 9,649,428 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01510,552,037 - 10,562,225 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0158,852,455 - 8,862,643 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0158,179,090 - 8,188,656 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl158,179,102 - 8,183,682 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01512,240,637 - 12,250,727 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4159,072,535 - 9,082,065 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1159,072,669 - 9,082,112 (-)NCBI
Celera157,547,539 - 7,557,053 (-)NCBICelera
Cytogenetic Map15p16NCBI
Nkiras1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543015,736,341 - 15,758,870 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543015,736,060 - 15,766,362 (-)NCBIChiLan1.0ChiLan1.0
NKIRAS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2223,852,802 - 23,877,793 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1323,857,568 - 23,882,559 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0323,804,054 - 23,829,071 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1324,128,587 - 24,152,731 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl324,128,587 - 24,146,611 (-)Ensemblpanpan1.1panPan2
NKIRAS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12319,829,764 - 19,861,462 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2319,830,124 - 19,861,424 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2319,827,022 - 19,859,564 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02320,141,926 - 20,174,508 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2320,142,715 - 20,177,656 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12319,951,249 - 19,983,814 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02320,060,471 - 20,093,032 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02320,169,590 - 20,202,160 (+)NCBIUU_Cfam_GSD_1.0
Nkiras1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118182,420,600 - 182,433,203 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647315,559,159 - 15,571,819 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647315,559,243 - 15,571,780 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NKIRAS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1310,686,488 - 10,716,099 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11310,686,480 - 10,716,162 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21312,134,526 - 12,255,285 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NKIRAS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11568,567,392 - 68,596,810 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1568,568,411 - 68,587,591 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604141,690,495 - 41,720,512 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nkiras1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247881,608,247 - 1,639,083 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247881,590,441 - 1,639,059 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NKIRAS1
134 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)x3 copy number gain See cases [RCV000051721] Chr3:19915382..25537973 [GRCh38]
Chr3:19956874..25579464 [GRCh37]
Chr3:19931878..25554468 [NCBI36]
Chr3:3p24.3-24.2		 pathogenic
GRCh38/hg38 3p24.3-24.2(chr3:23404410-24270481)x3 copy number gain See cases [RCV000136652] Chr3:23404410..24270481 [GRCh38]
Chr3:23445901..24311972 [GRCh37]
Chr3:23420905..24286976 [NCBI36]
Chr3:3p24.3-24.2		 uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p24.3-24.2(chr3:22348878-24190184)x3 copy number gain See cases [RCV000445990] Chr3:22348878..24190184 [GRCh37]
Chr3:3p24.3-24.2		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_005126.5(NR1D2):c.7G>A (p.Val3Met) single nucleotide variant Inborn genetic diseases [RCV003252594] Chr3:23945585 [GRCh38]
Chr3:23987076 [GRCh37]
Chr3:3p24.2		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 copy number gain not provided [RCV000682249] Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2		 pathogenic
NM_002948.5(RPL15):c.75C>G (p.Val25=) single nucleotide variant RPL15-related condition [RCV003962399]|not provided [RCV000958525]|not specified [RCV000503152] Chr3:23917934 [GRCh38]
Chr3:23959425 [GRCh37]
Chr3:3p24.2		 benign|likely benign
NM_001253384.2(RPL15):c.361-25T>G single nucleotide variant not provided [RCV001681808] Chr3:23921573 [GRCh38]
Chr3:23963064 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.579A>G (p.Arg193=) single nucleotide variant not provided [RCV000937052] Chr3:23919465 [GRCh38]
Chr3:23960956 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu) single nucleotide variant Diamond-Blackfan anemia 12 [RCV001089984] Chr3:23919200 [GRCh38]
Chr3:23960691 [GRCh37]
Chr3:3p24.2		 likely pathogenic
NG_033850.2(RPL15):g.7123_9515del deletion Diamond-Blackfan anemia 12 [RCV000074478] Chr3:23918665..23921057 [GRCh38]
Chr3:23960156..23962548 [GRCh37]
Chr3:23935161..23937553 [NCBI36]
Chr3:3p24.2		 pathogenic
NM_002948.5(RPL15):c.243C>T (p.Tyr81=) single nucleotide variant not provided [RCV000970921] Chr3:23918510 [GRCh38]
Chr3:23960001 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.310-2A>G single nucleotide variant not provided [RCV000280322] Chr3:23919194 [GRCh38]
Chr3:23960685 [GRCh37]
Chr3:3p24.2		 pathogenic
GRCh37/hg19 3p24.3-24.1(chr3:19064852-26448689)x1 copy number loss not provided [RCV000848353] Chr3:19064852..26448689 [GRCh37]
Chr3:3p24.3-24.1		 pathogenic
NM_002948.5(RPL15):c.282T>C (p.Phe94=) single nucleotide variant not provided [RCV000961035]|not specified [RCV001819031] Chr3:23918549 [GRCh38]
Chr3:23960040 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.310-18C>G single nucleotide variant not provided [RCV003117047] Chr3:23919178 [GRCh38]
Chr3:23960669 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.85C>A (p.Gln29Lys) single nucleotide variant not provided [RCV003114986] Chr3:23917944 [GRCh38]
Chr3:23959435 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_001377380.1(NKIRAS1):c.-139-10242C>T single nucleotide variant not provided [RCV001639758] Chr3:23921692 [GRCh38]
Chr3:23963183 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.-10-118A>C single nucleotide variant not provided [RCV001557575] Chr3:23917732 [GRCh38]
Chr3:23959223 [GRCh37]
Chr3:3p24.2		 likely benign
NM_001253384.2(RPL15):c.361-24T>G single nucleotide variant not provided [RCV001616253] Chr3:23921574 [GRCh38]
Chr3:23963065 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.-10-84T>C single nucleotide variant not provided [RCV001564548] Chr3:23917766 [GRCh38]
Chr3:23959257 [GRCh37]
Chr3:3p24.2		 likely benign
NM_001377380.1(NKIRAS1):c.-139-10193G>A single nucleotide variant not provided [RCV001659285] Chr3:23921643 [GRCh38]
Chr3:23963134 [GRCh37]
Chr3:3p24.2		 benign
NM_001253384.2(RPL15):c.361-5del deletion not provided [RCV001596184] Chr3:23921571 [GRCh38]
Chr3:23963062 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.172+5G>A single nucleotide variant Diamond-Blackfan anemia 12 [RCV000768300]|not provided [RCV001501852] Chr3:23918036 [GRCh38]
Chr3:23959527 [GRCh37]
Chr3:3p24.2		 likely benign|uncertain significance
NM_001253384.2(RPL15):c.361-6_361-5del deletion not provided [RCV001667603] Chr3:23921571..23921572 [GRCh38]
Chr3:23963062..23963063 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.566G>A (p.Arg189Gln) single nucleotide variant not provided [RCV001063923] Chr3:23919452 [GRCh38]
Chr3:23960943 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.*225G>A single nucleotide variant not provided [RCV001682131] Chr3:23919726 [GRCh38]
Chr3:23961217 [GRCh37]
Chr3:3p24.2		 benign
NM_001253384.2(RPL15):c.361-23T>G single nucleotide variant not provided [RCV001693619] Chr3:23921575 [GRCh38]
Chr3:23963066 [GRCh37]
Chr3:3p24.2		 benign
NM_001253384.2(RPL15):c.361-26_361-25insG insertion not provided [RCV001649780] Chr3:23921572..23921573 [GRCh38]
Chr3:23963063..23963064 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.309+13G>C single nucleotide variant not provided [RCV002066728]|not specified [RCV000603843] Chr3:23918589 [GRCh38]
Chr3:23960080 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.274C>A (p.Leu92Ile) single nucleotide variant not provided [RCV001350392] Chr3:23918541 [GRCh38]
Chr3:23960032 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.604C>T (p.Arg202Cys) single nucleotide variant not provided [RCV001303692] Chr3:23919490 [GRCh38]
Chr3:23960981 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.536A>G (p.Lys179Arg) single nucleotide variant Diamond-Blackfan anemia 12 [RCV001332199]|not provided [RCV003718405] Chr3:23919422 [GRCh38]
Chr3:23960913 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.486T>A (p.Arg162=) single nucleotide variant not provided [RCV001498160] Chr3:23919372 [GRCh38]
Chr3:23960863 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.173-4G>A single nucleotide variant not provided [RCV001521653] Chr3:23918436 [GRCh38]
Chr3:23959927 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.363T>C (p.Val121=) single nucleotide variant not provided [RCV001437701] Chr3:23919249 [GRCh38]
Chr3:23960740 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.495A>T (p.Thr165=) single nucleotide variant not provided [RCV001404353] Chr3:23919381 [GRCh38]
Chr3:23960872 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.18C>T (p.Tyr6=) single nucleotide variant RPL15-related condition [RCV003965824]|not provided [RCV001432945] Chr3:23917877 [GRCh38]
Chr3:23959368 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.294T>G (p.Leu98=) single nucleotide variant not provided [RCV001490714] Chr3:23918561 [GRCh38]
Chr3:23960052 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.477G>A (p.Arg159=) single nucleotide variant not provided [RCV001514745] Chr3:23919363 [GRCh38]
Chr3:23960854 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.505C>A (p.Arg169=) single nucleotide variant not provided [RCV001430245] Chr3:23919391 [GRCh38]
Chr3:23960882 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.514C>T (p.Arg172Cys) single nucleotide variant not provided [RCV001754716] Chr3:23919400 [GRCh38]
Chr3:23960891 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.103G>A (p.Ala35Thr) single nucleotide variant not provided [RCV001767386] Chr3:23917962 [GRCh38]
Chr3:23959453 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.87G>T (p.Gln29His) single nucleotide variant not provided [RCV001773906] Chr3:23917946 [GRCh38]
Chr3:23959437 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_001253384.2(RPL15):c.361-22T>G single nucleotide variant not provided [RCV001797362] Chr3:23921576 [GRCh38]
Chr3:23963067 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.612C>T (p.Arg204=) single nucleotide variant not specified [RCV001817225] Chr3:23919498 [GRCh38]
Chr3:23960989 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.320G>C (p.Gly107Ala) single nucleotide variant not specified [RCV001822364] Chr3:23919206 [GRCh38]
Chr3:23960697 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.563G>A (p.Arg188His) single nucleotide variant not provided [RCV002545166]|not specified [RCV001822413] Chr3:23919449 [GRCh38]
Chr3:23960940 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.-1G>C single nucleotide variant not specified [RCV001819457] Chr3:23917859 [GRCh38]
Chr3:23959350 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.443C>G (p.Thr148Ser) single nucleotide variant not provided [RCV001870525] Chr3:23919329 [GRCh38]
Chr3:23960820 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.55A>G (p.Met19Val) single nucleotide variant not provided [RCV001874371] Chr3:23917914 [GRCh38]
Chr3:23959405 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.166A>G (p.Lys56Glu) single nucleotide variant not provided [RCV002034183] Chr3:23918025 [GRCh38]
Chr3:23959516 [GRCh37]
Chr3:3p24.2		 uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
NM_002948.5(RPL15):c.145C>T (p.Arg49Cys) single nucleotide variant not provided [RCV002018741] Chr3:23918004 [GRCh38]
Chr3:23959495 [GRCh37]
Chr3:3p24.2		 uncertain significance
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_002948.5(RPL15):c.323G>A (p.Arg108His) single nucleotide variant RPL15-related condition [RCV003407944]|not provided [RCV001933122] Chr3:23919209 [GRCh38]
Chr3:23960700 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.211C>T (p.Arg71Ter) single nucleotide variant not provided [RCV001895134] Chr3:23918478 [GRCh38]
Chr3:23959969 [GRCh37]
Chr3:3p24.2		 pathogenic
NM_002948.5(RPL15):c.460C>G (p.Pro154Ala) single nucleotide variant not provided [RCV001988063] Chr3:23919346 [GRCh38]
Chr3:23960837 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.383A>G (p.Lys128Arg) single nucleotide variant not provided [RCV001931493] Chr3:23919269 [GRCh38]
Chr3:23960760 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.128C>T (p.Thr43Ile) single nucleotide variant not provided [RCV001932633] Chr3:23917987 [GRCh38]
Chr3:23959478 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.458A>G (p.Lys153Arg) single nucleotide variant Diamond-Blackfan anemia 12 [RCV002478277]|not provided [RCV001911113] Chr3:23919344 [GRCh38]
Chr3:23960835 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.349A>G (p.Asn117Asp) single nucleotide variant not provided [RCV001892372] Chr3:23919235 [GRCh38]
Chr3:23960726 [GRCh37]
Chr3:3p24.2		 uncertain significance
NC_000003.11:g.(?_16710965)_(41275270_?)del deletion not provided [RCV001958625] Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1		 pathogenic
NM_002948.5(RPL15):c.244G>A (p.Gly82Ser) single nucleotide variant not provided [RCV001933578] Chr3:23918511 [GRCh38]
Chr3:23960002 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.310-4C>G single nucleotide variant not provided [RCV002074994] Chr3:23919192 [GRCh38]
Chr3:23960683 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.531C>T (p.Gly177=) single nucleotide variant not provided [RCV002197792] Chr3:23919417 [GRCh38]
Chr3:23960908 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.168G>A (p.Lys56=) single nucleotide variant not provided [RCV002138040] Chr3:23918027 [GRCh38]
Chr3:23959518 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.177C>T (p.Tyr59=) single nucleotide variant not provided [RCV002118091] Chr3:23918444 [GRCh38]
Chr3:23959935 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.438T>C (p.Pro146=) single nucleotide variant not provided [RCV002128329] Chr3:23919324 [GRCh38]
Chr3:23960815 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.173-18G>A single nucleotide variant not provided [RCV002138119] Chr3:23918422 [GRCh38]
Chr3:23959913 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.172+15G>A single nucleotide variant not provided [RCV002077058] Chr3:23918046 [GRCh38]
Chr3:23959537 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.173-10T>C single nucleotide variant RPL15-related condition [RCV003958673]|not provided [RCV002103950] Chr3:23918430 [GRCh38]
Chr3:23959921 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.173-19_173-18delinsTT indel not provided [RCV003113444] Chr3:23918421..23918422 [GRCh38]
Chr3:23959912..23959913 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.506G>T (p.Arg169Leu) single nucleotide variant not provided [RCV003117220] Chr3:23919392 [GRCh38]
Chr3:23960883 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.173-50G>A single nucleotide variant not provided [RCV002285716] Chr3:23918390 [GRCh38]
Chr3:23959881 [GRCh37]
Chr3:3p24.2		 likely benign
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 copy number gain See cases [RCV002287839] Chr3:13836340..25357427 [GRCh37]
Chr3:3p25.1-24.2		 pathogenic
NM_002948.5(RPL15):c.130del (p.Arg44fs) deletion Diamond-Blackfan anemia 12 [RCV002290331] Chr3:23917987 [GRCh38]
Chr3:23959478 [GRCh37]
Chr3:3p24.2		 pathogenic
NM_002948.5(RPL15):c.396T>C (p.Val132=) single nucleotide variant not provided [RCV002616664] Chr3:23919282 [GRCh38]
Chr3:23960773 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.124C>T (p.Pro42Ser) single nucleotide variant not provided [RCV002756213] Chr3:23917983 [GRCh38]
Chr3:23959474 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_003341.5(UBE2E1):c.518A>G (p.Tyr173Cys) single nucleotide variant Inborn genetic diseases [RCV002772212] Chr3:23890542 [GRCh38]
Chr3:23932033 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_020345.4(NKIRAS1):c.455C>G (p.Thr152Arg) single nucleotide variant Inborn genetic diseases [RCV002973753] Chr3:23893219 [GRCh38]
Chr3:23934710 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_020345.4(NKIRAS1):c.130A>G (p.Met44Val) single nucleotide variant Inborn genetic diseases [RCV002879777] Chr3:23901014 [GRCh38]
Chr3:23942505 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.120C>T (p.Pro40=) single nucleotide variant not provided [RCV002780649] Chr3:23917979 [GRCh38]
Chr3:23959470 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.364G>T (p.Gly122Cys) single nucleotide variant Inborn genetic diseases [RCV003269498]|not provided [RCV002620852] Chr3:23919250 [GRCh38]
Chr3:23960741 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.495A>G (p.Thr165=) single nucleotide variant not provided [RCV002637331] Chr3:23919381 [GRCh38]
Chr3:23960872 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.594C>G (p.Leu198=) single nucleotide variant not provided [RCV002620319] Chr3:23919480 [GRCh38]
Chr3:23960971 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.47C>G (p.Ser16Cys) single nucleotide variant not provided [RCV002592398] Chr3:23917906 [GRCh38]
Chr3:23959397 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.180T>C (p.Val60=) single nucleotide variant not provided [RCV002592129] Chr3:23918447 [GRCh38]
Chr3:23959938 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.594C>T (p.Leu198=) single nucleotide variant not provided [RCV002790644] Chr3:23919480 [GRCh38]
Chr3:23960971 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.447G>A (p.Gln149=) single nucleotide variant not provided [RCV002745572] Chr3:23919333 [GRCh38]
Chr3:23960824 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.172+7G>A single nucleotide variant not provided [RCV002895109] Chr3:23918038 [GRCh38]
Chr3:23959529 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.614A>G (p.Ter205=) single nucleotide variant RPL15-related condition [RCV003973681]|not provided [RCV002574503] Chr3:23919500 [GRCh38]
Chr3:23960991 [GRCh37]
Chr3:3p24.2		 likely benign|uncertain significance
NM_002948.5(RPL15):c.357C>T (p.Tyr119=) single nucleotide variant not provided [RCV002596216] Chr3:23919243 [GRCh38]
Chr3:23960734 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.330T>C (p.Cys110=) single nucleotide variant not provided [RCV003083025] Chr3:23919216 [GRCh38]
Chr3:23960707 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.217C>T (p.Arg73Cys) single nucleotide variant not provided [RCV002595083] Chr3:23918484 [GRCh38]
Chr3:23959975 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.337C>T (p.Leu113=) single nucleotide variant not provided [RCV003083140] Chr3:23919223 [GRCh38]
Chr3:23960714 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.196G>A (p.Val66Ile) single nucleotide variant Inborn genetic diseases [RCV003090528]|not provided [RCV003087356] Chr3:23918463 [GRCh38]
Chr3:23959954 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.441C>T (p.Asp147=) single nucleotide variant RPL15-related condition [RCV003906517]|not provided [RCV002602327] Chr3:23919327 [GRCh38]
Chr3:23960818 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.212G>A (p.Arg71Gln) single nucleotide variant not provided [RCV002834775] Chr3:23918479 [GRCh38]
Chr3:23959970 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.505C>G (p.Arg169Gly) single nucleotide variant not provided [RCV002602775] Chr3:23919391 [GRCh38]
Chr3:23960882 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.310-5_310-3del deletion not provided [RCV003090433] Chr3:23919190..23919192 [GRCh38]
Chr3:23960681..23960683 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.138T>G (p.Asp46Glu) single nucleotide variant not provided [RCV003087052] Chr3:23917997 [GRCh38]
Chr3:23959488 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.156C>T (p.Gly52=) single nucleotide variant not provided [RCV002599664] Chr3:23918015 [GRCh38]
Chr3:23959506 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.341G>C (p.Arg114Thr) single nucleotide variant not provided [RCV002600038] Chr3:23919227 [GRCh38]
Chr3:23960718 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.240T>A (p.Thr80=) single nucleotide variant not provided [RCV003088817] Chr3:23918507 [GRCh38]
Chr3:23959998 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.578G>A (p.Arg193Lys) single nucleotide variant not provided [RCV002598611] Chr3:23919464 [GRCh38]
Chr3:23960955 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.386T>A (p.Phe129Tyr) single nucleotide variant not provided [RCV002675597] Chr3:23919272 [GRCh38]
Chr3:23960763 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.324C>T (p.Arg108=) single nucleotide variant not provided [RCV002600341] Chr3:23919210 [GRCh38]
Chr3:23960701 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.405T>G (p.Ile135Met) single nucleotide variant not provided [RCV002632622] Chr3:23919291 [GRCh38]
Chr3:23960782 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.257A>G (p.His86Arg) single nucleotide variant not provided [RCV002633152] Chr3:23918524 [GRCh38]
Chr3:23960015 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_020345.4(NKIRAS1):c.109G>A (p.Glu37Lys) single nucleotide variant Inborn genetic diseases [RCV003192467] Chr3:23901035 [GRCh38]
Chr3:23942526 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter) duplication Diamond-Blackfan anemia 12 [RCV003228754]|RPL15-related condition [RCV003973781] Chr3:23918508..23918509 [GRCh38]
Chr3:23959999..23960000 [GRCh37]
Chr3:3p24.2		 pathogenic
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro) single nucleotide variant Diamond-Blackfan anemia 12 [RCV003228756] Chr3:23917888 [GRCh38]
Chr3:23959379 [GRCh37]
Chr3:3p24.2		 pathogenic
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter) single nucleotide variant Diamond-Blackfan anemia 12 [RCV003228755] Chr3:23917944 [GRCh38]
Chr3:23959435 [GRCh37]
Chr3:3p24.2		 pathogenic
NM_020345.4(NKIRAS1):c.122A>G (p.Asp41Gly) single nucleotide variant Inborn genetic diseases [RCV003203335] Chr3:23901022 [GRCh38]
Chr3:23942513 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.436C>G (p.Pro146Ala) single nucleotide variant not specified [RCV003151638] Chr3:23919322 [GRCh38]
Chr3:23960813 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr) single nucleotide variant Diamond-Blackfan anemia 12 [RCV003228757] Chr3:23919344 [GRCh38]
Chr3:23960835 [GRCh37]
Chr3:3p24.2		 pathogenic
NM_002948.5(RPL15):c.101C>T (p.Ser34Phe) single nucleotide variant not specified [RCV003151637] Chr3:23917960 [GRCh38]
Chr3:23959451 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.383A>C (p.Lys128Thr) single nucleotide variant Inborn genetic diseases [RCV003345977] Chr3:23919269 [GRCh38]
Chr3:23960760 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.178G>A (p.Val60Ile) single nucleotide variant Inborn genetic diseases [RCV003359250] Chr3:23918445 [GRCh38]
Chr3:23959936 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_020345.4(NKIRAS1):c.343A>T (p.Ile115Phe) single nucleotide variant Inborn genetic diseases [RCV003352538] Chr3:23893331 [GRCh38]
Chr3:23934822 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.165_172+16del deletion not provided [RCV003457374] Chr3:23918022..23918045 [GRCh38]
Chr3:23959513..23959536 [GRCh37]
Chr3:3p24.2		 pathogenic
NM_002948.5(RPL15):c.402C>T (p.Leu134=) single nucleotide variant not provided [RCV003725937] Chr3:23919288 [GRCh38]
Chr3:23960779 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.297G>T (p.Gln99His) single nucleotide variant not provided [RCV003713775] Chr3:23918564 [GRCh38]
Chr3:23960055 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.122G>T (p.Arg41Leu) single nucleotide variant not provided [RCV003660655] Chr3:23917981 [GRCh38]
Chr3:23959472 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.309+12T>G single nucleotide variant not provided [RCV003733833] Chr3:23918588 [GRCh38]
Chr3:23960079 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.427A>G (p.Arg143Gly) single nucleotide variant not provided [RCV003675786] Chr3:23919313 [GRCh38]
Chr3:23960804 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.304G>C (p.Ala102Pro) single nucleotide variant not provided [RCV003677548] Chr3:23918571 [GRCh38]
Chr3:23960062 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.439G>A (p.Asp147Asn) single nucleotide variant not provided [RCV003719755] Chr3:23919325 [GRCh38]
Chr3:23960816 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.274C>T (p.Leu92=) single nucleotide variant not provided [RCV003719845] Chr3:23918541 [GRCh38]
Chr3:23960032 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.45G>A (p.Gln15=) single nucleotide variant not provided [RCV003720029] Chr3:23917904 [GRCh38]
Chr3:23959395 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.309+15G>C single nucleotide variant not provided [RCV003688354] Chr3:23918591 [GRCh38]
Chr3:23960082 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.215A>G (p.Lys72Arg) single nucleotide variant not provided [RCV003694791] Chr3:23918482 [GRCh38]
Chr3:23959973 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.171A>G (p.Gln57=) single nucleotide variant not provided [RCV003702319] Chr3:23918030 [GRCh38]
Chr3:23959521 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.381C>T (p.Tyr127=) single nucleotide variant not provided [RCV003724111] Chr3:23919267 [GRCh38]
Chr3:23960758 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.339G>C (p.Leu113=) single nucleotide variant not provided [RCV003724123] Chr3:23919225 [GRCh38]
Chr3:23960716 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.75C>T (p.Val25=) single nucleotide variant not provided [RCV003724267] Chr3:23917934 [GRCh38]
Chr3:23959425 [GRCh37]
Chr3:3p24.2		 likely benign
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_002948.5(RPL15):c.23A>C (p.Gln8Pro) single nucleotide variant not provided [RCV003443842] Chr3:23917882 [GRCh38]
Chr3:23959373 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_001377380.1(NKIRAS1):c.-139-10164_-139-10161del microsatellite not provided [RCV003433502] Chr3:23921611..23921614 [GRCh38]
Chr3:23963102..23963105 [GRCh37]
Chr3:3p24.2		 benign
NM_002948.5(RPL15):c.48T>A (p.Ser16=) single nucleotide variant not provided [RCV003563339] Chr3:23917907 [GRCh38]
Chr3:23959398 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.165C>T (p.Ala55=) single nucleotide variant not provided [RCV003875984] Chr3:23918024 [GRCh38]
Chr3:23959515 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.151C>G (p.Leu51Val) single nucleotide variant not provided [RCV003554573] Chr3:23918010 [GRCh38]
Chr3:23959501 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.565C>T (p.Arg189Trp) single nucleotide variant not provided [RCV003549763] Chr3:23919451 [GRCh38]
Chr3:23960942 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.446A>G (p.Gln149Arg) single nucleotide variant not provided [RCV003879377] Chr3:23919332 [GRCh38]
Chr3:23960823 [GRCh37]
Chr3:3p24.2		 uncertain significance
NM_002948.5(RPL15):c.322C>A (p.Arg108Ser) single nucleotide variant not provided [RCV003832246] Chr3:23919208 [GRCh38]
Chr3:23960699 [GRCh37]
Chr3:3p24.2		 uncertain significance
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_001253384.2(RPL15):c.361-15_361-5del deletion RPL15-related condition [RCV003926913] Chr3:23921571..23921581 [GRCh38]
Chr3:23963062..23963072 [GRCh37]
Chr3:3p24.2		 benign
NM_001253384.2(RPL15):c.431G>A (p.Arg144Gln) single nucleotide variant RPL15-related condition [RCV003924638] Chr3:23921668 [GRCh38]
Chr3:23963159 [GRCh37]
Chr3:3p24.2		 likely benign
NM_001253384.2(RPL15):c.361-6_361-5dup duplication RPL15-related condition [RCV003924364] Chr3:23921570..23921571 [GRCh38]
Chr3:23963061..23963062 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.310-7A>G single nucleotide variant RPL15-related condition [RCV003934751] Chr3:23919189 [GRCh38]
Chr3:23960680 [GRCh37]
Chr3:3p24.2		 likely benign
NM_001253384.2(RPL15):c.*4A>G single nucleotide variant RPL15-related condition [RCV003957189] Chr3:23921679 [GRCh38]
Chr3:23963170 [GRCh37]
Chr3:3p24.2		 likely benign
NM_002948.5(RPL15):c.525A>C (p.Gly175=) single nucleotide variant RPL15-related condition [RCV003901618] Chr3:23919411 [GRCh38]
Chr3:23960902 [GRCh37]
Chr3:3p24.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2156
Count of miRNA genes:373
Interacting mature miRNAs:399
Transcripts:ENST00000388759, ENST00000412028, ENST00000415901, ENST00000416026, ENST00000421515, ENST00000425478, ENST00000437230, ENST00000443659
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
D10S595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37323,950,277 - 23,951,746UniSTSGRCh37
GRCh371020,636,874 - 20,637,068UniSTSGRCh37
Build 361020,676,880 - 20,677,074RGDNCBI36
Celera323,886,460 - 23,887,929UniSTS
Celera1020,322,963 - 20,323,163RGD
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map10p12.31UniSTS
HuRef323,896,365 - 23,897,833UniSTS
HuRef1020,301,052 - 20,301,252UniSTS
Marshfield Genetic Map1046.94UniSTS
Marshfield Genetic Map1046.94RGD
Genethon Genetic Map1044.8UniSTS
GeneMap99-GB4 RH Map10127.35UniSTS
Whitehead-RH Map10130.1UniSTS
Whitehead-YAC Contig Map10 UniSTS
WI-16381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37323,947,121 - 23,947,269UniSTSGRCh37
Build 36323,922,125 - 23,922,273RGDNCBI36
Celera323,883,304 - 23,883,452RGD
Cytogenetic Map3p24.2UniSTS
HuRef323,893,207 - 23,893,355UniSTS
GeneMap99-GB4 RH Map384.2UniSTS
Whitehead-RH Map395.2UniSTS
NKIRAS1_9559  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37323,933,721 - 23,934,426UniSTSGRCh37
Build 36323,908,725 - 23,909,430RGDNCBI36
Celera323,869,906 - 23,870,611RGD
HuRef323,879,809 - 23,880,514UniSTS
SHGC-76773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37323,933,692 - 23,933,859UniSTSGRCh37
Build 36323,908,696 - 23,908,863RGDNCBI36
Celera323,869,877 - 23,870,044RGD
Cytogenetic Map3p24.2UniSTS
HuRef323,879,780 - 23,879,947UniSTS
TNG Radiation Hybrid Map314535.0UniSTS
GeneMap99-GB4 RH Map384.3UniSTS
NCBI RH Map3230.4UniSTS
SHGC-76774  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37323,959,396 - 23,959,618UniSTSGRCh37
Build 36323,934,400 - 23,934,622RGDNCBI36
Celera323,895,586 - 23,895,808RGD
Cytogenetic Map3p24.2UniSTS
HuRef323,905,490 - 23,905,712UniSTS
TNG Radiation Hybrid Map314549.0UniSTS
GeneMap99-GB4 RH Map384.3UniSTS
Whitehead-RH Map385.8UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3230.4UniSTS


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 645 893 479 66 286 67 1076 890 2425 103 697 227 4 1 62 959
Low 1793 1782 1247 558 1380 398 3281 1276 1309 315 763 1386 170 1141 1829 5 2
Below cutoff 1 316 285 31 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001377351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC124914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF229839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX405750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG713995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA116722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ314881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000388759   ⟹   ENSP00000373411
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,891,660 - 23,916,969 (-)Ensembl
RefSeq Acc Id: ENST00000412028   ⟹   ENSP00000396063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,892,307 - 23,916,963 (-)Ensembl
RefSeq Acc Id: ENST00000415901   ⟹   ENSP00000415225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,892,310 - 23,916,924 (-)Ensembl
RefSeq Acc Id: ENST00000416026   ⟹   ENSP00000394214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,893,065 - 23,916,952 (-)Ensembl
RefSeq Acc Id: ENST00000421515   ⟹   ENSP00000392307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,892,064 - 23,946,591 (-)Ensembl
RefSeq Acc Id: ENST00000425478   ⟹   ENSP00000400385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,889,951 - 23,916,990 (-)Ensembl
RefSeq Acc Id: ENST00000437230   ⟹   ENSP00000406543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,892,097 - 23,916,969 (-)Ensembl
RefSeq Acc Id: ENST00000443659   ⟹   ENSP00000393785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,892,061 - 23,916,715 (-)Ensembl
RefSeq Acc Id: ENST00000614374   ⟹   ENSP00000483749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl323,892,083 - 23,910,925 (-)Ensembl
RefSeq Acc Id: NM_001377351   ⟹   NP_001364280
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377352   ⟹   NP_001364281
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377353   ⟹   NP_001364282
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377354   ⟹   NP_001364283
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377355   ⟹   NP_001364284
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377356   ⟹   NP_001364285
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377357   ⟹   NP_001364286
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377358   ⟹   NP_001364287
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377359   ⟹   NP_001364288
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377360   ⟹   NP_001364289
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377361   ⟹   NP_001364290
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,917,055 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377362   ⟹   NP_001364291
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,917,055 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377363   ⟹   NP_001364292
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,917,055 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377364   ⟹   NP_001364293
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,917,055 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377365   ⟹   NP_001364294
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,917,055 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377366   ⟹   NP_001364295
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377367   ⟹   NP_001364296
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377368   ⟹   NP_001364297
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377369   ⟹   NP_001364298
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377370   ⟹   NP_001364299
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377371   ⟹   NP_001364300
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377372   ⟹   NP_001364301
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001377380   ⟹   NP_001364309
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,946,562 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,951,314 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020345   ⟹   NP_065078
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
GRCh37323,933,552 - 23,958,537 (-)NCBI
Build 36323,908,576 - 23,933,541 (-)NCBI Archive
Celera323,869,757 - 23,894,727 (-)RGD
HuRef323,879,660 - 23,904,631 (-)ENTREZGENE
CHM1_1323,885,392 - 23,910,352 (-)NCBI
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024453460   ⟹   XP_024309228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,705 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447998   ⟹   XP_047303954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,990 (-)NCBI
RefSeq Acc Id: XM_047447999   ⟹   XP_047303955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,889,951 - 23,916,726 (-)NCBI
RefSeq Acc Id: XM_054346244   ⟹   XP_054202219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0323,894,728 - 23,921,766 (-)NCBI
RefSeq Acc Id: XM_054346245   ⟹   XP_054202220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0323,894,728 - 23,921,502 (-)NCBI
RefSeq Acc Id: XM_054346246   ⟹   XP_054202221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0323,894,728 - 23,921,481 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001364280 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364281 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364282 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364283 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364284 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364285 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364286 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364287 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364288 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364289 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364290 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364291 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364292 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364293 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364294 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364295 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364296 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364297 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364298 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364299 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364300 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364301 (Get FASTA)   NCBI Sequence Viewer  
  NP_001364309 (Get FASTA)   NCBI Sequence Viewer  
  NP_065078 (Get FASTA)   NCBI Sequence Viewer  
  XP_024309228 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303954 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303955 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202219 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202221 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF34998 (Get FASTA)   NCBI Sequence Viewer  
  AAH12145 (Get FASTA)   NCBI Sequence Viewer  
  AAH66940 (Get FASTA)   NCBI Sequence Viewer  
  ABC40740 (Get FASTA)   NCBI Sequence Viewer  
  BAB55341 (Get FASTA)   NCBI Sequence Viewer  
  CAD34857 (Get FASTA)   NCBI Sequence Viewer  
  EAW64335 (Get FASTA)   NCBI Sequence Viewer  
  EAW64336 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000373411
  ENSP00000373411.3
  ENSP00000392307
  ENSP00000392307.2
  ENSP00000393785
  ENSP00000393785.2
  ENSP00000394214
  ENSP00000394214.2
  ENSP00000396063.1
  ENSP00000400385
  ENSP00000400385.2
  ENSP00000406543.1
  ENSP00000415225.2
  ENSP00000483749
  ENSP00000483749.1
GenBank Protein Q9NYS0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_065078   ⟸   NM_020345
- Peptide Label: isoform 1
- UniProtKB: Q96K18 (UniProtKB/Swiss-Prot),   Q9NYS0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024309228   ⟸   XM_024453460
- Peptide Label: isoform X1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001364309   ⟸   NM_001377380
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364294   ⟸   NM_001377365
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364292   ⟸   NM_001377363
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364291   ⟸   NM_001377362
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364290   ⟸   NM_001377361
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364293   ⟸   NM_001377364
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364284   ⟸   NM_001377355
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364283   ⟸   NM_001377354
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364281   ⟸   NM_001377352
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364299   ⟸   NM_001377370
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364288   ⟸   NM_001377359
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364289   ⟸   NM_001377360
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364280   ⟸   NM_001377351
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364282   ⟸   NM_001377353
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364296   ⟸   NM_001377367
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364298   ⟸   NM_001377369
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001364297   ⟸   NM_001377368
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364300   ⟸   NM_001377371
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364295   ⟸   NM_001377366
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364301   ⟸   NM_001377372
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001364287   ⟸   NM_001377358
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364285   ⟸   NM_001377356
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001364286   ⟸   NM_001377357
- Peptide Label: isoform 1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000400385   ⟸   ENST00000425478
RefSeq Acc Id: ENSP00000396063   ⟸   ENST00000412028
RefSeq Acc Id: ENSP00000373411   ⟸   ENST00000388759
RefSeq Acc Id: ENSP00000415225   ⟸   ENST00000415901
RefSeq Acc Id: ENSP00000394214   ⟸   ENST00000416026
RefSeq Acc Id: ENSP00000483749   ⟸   ENST00000614374
RefSeq Acc Id: ENSP00000393785   ⟸   ENST00000443659
RefSeq Acc Id: ENSP00000392307   ⟸   ENST00000421515
RefSeq Acc Id: ENSP00000406543   ⟸   ENST00000437230
RefSeq Acc Id: XP_047303954   ⟸   XM_047447998
- Peptide Label: isoform X1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047303955   ⟸   XM_047447999
- Peptide Label: isoform X1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054202219   ⟸   XM_054346244
- Peptide Label: isoform X1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054202220   ⟸   XM_054346245
- Peptide Label: isoform X1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054202221   ⟸   XM_054346246
- Peptide Label: isoform X1
- UniProtKB: Q9NYS0 (UniProtKB/Swiss-Prot),   Q96K18 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NYS0-F1-model_v2 AlphaFold Q9NYS0 1-192 view protein structure

Promoters
RGD ID:6863794
Promoter ID:EPDNEW_H5062
Type:initiation region
Name:NKIRAS1_1
Description:NFKB inhibitor interacting Ras like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38323,916,990 - 23,917,050EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17899 AgrOrtholog
COSMIC NKIRAS1 COSMIC
Ensembl Genes ENSG00000197885 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000388759 ENTREZGENE
  ENST00000388759.7 UniProtKB/Swiss-Prot
  ENST00000412028.5 UniProtKB/TrEMBL
  ENST00000415901.6 UniProtKB/TrEMBL
  ENST00000416026 ENTREZGENE
  ENST00000416026.2 UniProtKB/Swiss-Prot
  ENST00000421515 ENTREZGENE
  ENST00000421515.6 UniProtKB/Swiss-Prot
  ENST00000425478 ENTREZGENE
  ENST00000425478.7 UniProtKB/Swiss-Prot
  ENST00000437230.5 UniProtKB/TrEMBL
  ENST00000443659 ENTREZGENE
  ENST00000443659.6 UniProtKB/Swiss-Prot
  ENST00000614374 ENTREZGENE
  ENST00000614374.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197885 GTEx
HGNC ID HGNC:17899 ENTREZGENE
Human Proteome Map NKIRAS1 Human Proteome Map
InterPro KBRS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:28512 UniProtKB/Swiss-Prot
NCBI Gene 28512 ENTREZGENE
OMIM 604496 OMIM
PANTHER NF-KAPPA-B INHIBITOR-INTERACTING RAS-LIKE PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46152 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134958823 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/TrEMBL
SMART RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G5E9P3_HUMAN UniProtKB/TrEMBL
  KBRS1_HUMAN UniProtKB/Swiss-Prot
  Q96K18 ENTREZGENE
  Q9NYS0 ENTREZGENE
UniProt Secondary A0A024R2I6 UniProtKB/TrEMBL
  A0A9K3Y7T3 UniProtKB/TrEMBL
  Q96K18 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 NKIRAS1  NFKB inhibitor interacting Ras like 1    NFKB inhibitor interacting Ras-like 1  Symbol and/or name change 5135510 APPROVED