RHNO1 (RAD9-HUS1-RAD1 interacting nuclear orphan 1) - Rat Genome Database

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Gene: RHNO1 (RAD9-HUS1-RAD1 interacting nuclear orphan 1) Homo sapiens
Analyze
Symbol: RHNO1
Name: RAD9-HUS1-RAD1 interacting nuclear orphan 1
RGD ID: 1602857
HGNC Page HGNC:28206
Description: Enables chromatin-protein adaptor activity. Involved in several processes, including DNA repair; cellular response to radiation; and regulation of cell cycle process. Located in chromosome and nucleus. Is active in chromatin and site of double-strand break.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C12orf32; FLJ60873; HKMT1188; MGC13204; RAD9, HUS1, RAD1-interacting nuclear orphan protein 1; Rad9, Rad1, Hus1 interacting nuclear orphan; RAD9, RAD1, HUS1-interacting nuclear orphan protein; RHINO
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
GRCh38122,876,265 - 2,889,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,876,258 - 2,889,524 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,985,431 - 2,998,690 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,856,650 - 2,868,887 (+)NCBINCBI36Build 36hg18NCBI36
Celera124,600,319 - 4,612,514 (+)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef122,842,655 - 2,855,853 (+)NCBIHuRef
CHM1_1122,984,683 - 2,997,932 (+)NCBICHM1_1
T2T-CHM13v2.0122,882,276 - 2,895,466 (+)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
chromatin  (IDA)
chromosome  (IBA,IDA,IEA)
nucleoplasm  (TAS)
nucleus  (IBA,IDA,IEA)
site of double-strand break  (IDA)

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:11414747   PMID:12477932   PMID:14702039   PMID:15221005   PMID:15489334   PMID:16341674   PMID:16344560   PMID:17525332   PMID:19322201   PMID:20811708   PMID:21145461   PMID:21659603  
PMID:21873635   PMID:24562772   PMID:25416956   PMID:25602520   PMID:27107012   PMID:29656893   PMID:30295604   PMID:30686591   PMID:31515488   PMID:31776186   PMID:32296183   PMID:32393512  
PMID:32814053   PMID:33890574   PMID:33961781   PMID:37364391   PMID:37440612   PMID:38354779  


Genomics

Comparative Map Data
RHNO1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38122,876,265 - 2,889,524 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl122,876,258 - 2,889,524 (+)EnsemblGRCh38hg38GRCh38
GRCh37122,985,431 - 2,998,690 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,856,650 - 2,868,887 (+)NCBINCBI36Build 36hg18NCBI36
Celera124,600,319 - 4,612,514 (+)NCBICelera
Cytogenetic Map12p13.33NCBI
HuRef122,842,655 - 2,855,853 (+)NCBIHuRef
CHM1_1122,984,683 - 2,997,932 (+)NCBICHM1_1
T2T-CHM13v2.0122,882,276 - 2,895,466 (+)NCBIT2T-CHM13v2.0
Rhno1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396128,333,962 - 128,339,876 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6128,333,963 - 128,339,874 (-)EnsemblGRCm39 Ensembl
GRCm386128,356,999 - 128,362,911 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6128,357,000 - 128,362,911 (-)EnsemblGRCm38mm10GRCm38
MGSCv376128,307,018 - 128,312,915 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366128,322,979 - 128,328,441 (-)NCBIMGSCv36mm8
Celera6130,033,894 - 130,039,797 (-)NCBICelera
Cytogenetic Map6F3NCBI
cM Map662.97NCBI
Rhno1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84163,320,141 - 163,325,527 (-)NCBIGRCr8
mRatBN7.24161,634,047 - 161,639,437 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4161,634,048 - 161,639,371 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4167,863,663 - 167,869,043 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04163,646,599 - 163,651,979 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04162,280,639 - 162,286,019 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04161,679,674 - 161,685,060 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4161,680,027 - 161,681,660 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04226,885,735 - 226,891,121 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44165,378,057 - 165,383,443 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14165,622,992 - 165,628,313 (-)NCBI
Celera4150,335,647 - 150,341,033 (-)NCBICelera
Cytogenetic Map4q42NCBI
Rhno1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542918,408,117 - 18,415,832 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542918,408,121 - 18,415,832 (+)NCBIChiLan1.0ChiLan1.0
RHNO1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2108,428,605 - 8,441,298 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1128,425,370 - 8,438,017 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0122,999,089 - 3,011,911 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1122,930,957 - 2,943,419 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl122,930,957 - 2,943,419 (+)Ensemblpanpan1.1panPan2
RHNO1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12741,885,779 - 41,906,252 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2741,886,052 - 41,891,759 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha274,777,921 - 4,798,483 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02742,243,610 - 42,264,420 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2742,243,889 - 42,249,611 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12742,185,441 - 42,206,006 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02742,155,058 - 42,175,615 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0274,137,639 - 4,158,211 (+)NCBIUU_Cfam_GSD_1.0
Rhno1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945105,976,143 - 105,982,652 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366063,201,504 - 3,208,342 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366063,201,540 - 3,208,019 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHNO1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl567,239,202 - 67,246,124 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1567,239,907 - 67,246,150 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2569,526,778 - 69,532,778 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RHNO1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1112,941,055 - 2,955,421 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl112,941,001 - 2,955,438 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660635,361,290 - 5,375,675 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rhno1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624860226,569 - 232,798 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624860222,054 - 230,755 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHNO1
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-13.32(chr12:121255-3968447)x1 copy number loss See cases [RCV000050637] Chr12:121255..3968447 [GRCh38]
Chr12:282465..4077613 [GRCh37]
Chr12:100682..3947874 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 copy number loss See cases [RCV000052777] Chr12:2492728..4829842 [GRCh38]
Chr12:2601894..4939008 [GRCh37]
Chr12:2472155..4809269 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:199896-3284963)x3 copy number gain See cases [RCV000053665] Chr12:199896..3284963 [GRCh38]
Chr12:309062..3394129 [GRCh37]
Chr12:179323..3264390 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:1764264-4231744)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053669]|See cases [RCV000053669] Chr12:1764264..4231744 [GRCh38]
Chr12:1873430..4340910 [GRCh37]
Chr12:1743691..4211171 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:80412-4420585)x1 copy number loss See cases [RCV000138558] Chr12:80412..4420585 [GRCh38]
Chr12:282465..4529751 [GRCh37]
Chr12:59839..4400012 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-3639603)x1 copy number loss See cases [RCV000141250] Chr12:54427..3639603 [GRCh38]
Chr12:282465..3748769 [GRCh37]
Chr12:33854..3619030 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:54427-4004912)x1 copy number loss See cases [RCV000140991] Chr12:54427..4004912 [GRCh38]
Chr12:282465..4114078 [GRCh37]
Chr12:33854..3984339 [NCBI36]
Chr12:12p13.33-13.32		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2619985-3489688)x3 copy number gain See cases [RCV000141599] Chr12:2619985..3489688 [GRCh38]
Chr12:2729151..3598854 [GRCh37]
Chr12:2599412..3469115 [NCBI36]
Chr12:12p13.33-13.32		 uncertain significance
GRCh38/hg38 12p13.33-13.32(chr12:2188620-3361190)x3 copy number gain See cases [RCV000141614] Chr12:2188620..3361190 [GRCh38]
Chr12:2297786..3470356 [GRCh37]
Chr12:2168047..3340617 [NCBI36]
Chr12:12p13.33-13.32		 uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33(chr12:121255-3003320)x1 copy number loss See cases [RCV000142595] Chr12:121255..3003320 [GRCh38]
Chr12:282465..3112486 [GRCh37]
Chr12:100682..2982747 [NCBI36]
Chr12:12p13.33		 pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:222888-3931052)x1 copy number loss See cases [RCV000239873] Chr12:222888..3931052 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31		 pathogenic|not provided
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2245848-3614555)x3 copy number gain See cases [RCV000511901] Chr12:2245848..3614555 [GRCh37]
Chr12:12p13.33-13.32		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2		 pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:173786-4105910)x1 copy number loss not provided [RCV000683471] Chr12:173786..4105910 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33(chr12:2989329-3299002)x3 copy number gain not provided [RCV000683420] Chr12:2989329..3299002 [GRCh37]
Chr12:12p13.33		 uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33(chr12:2973615-3034490)x3 copy number gain not provided [RCV000737741] Chr12:2973615..3034490 [GRCh37]
Chr12:12p13.33		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
NM_001252499.3(RHNO1):c.22C>T (p.Arg8Cys) single nucleotide variant not provided [RCV000883518] Chr12:2885388 [GRCh38]
Chr12:2994554 [GRCh37]
Chr12:12p13.33		 likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_001252499.3(RHNO1):c.250C>T (p.Arg84Ter) single nucleotide variant not provided [RCV000889983] Chr12:2887992 [GRCh38]
Chr12:2997158 [GRCh37]
Chr12:12p13.33		 likely benign
GRCh37/hg19 12p13.33-13.32(chr12:191242-4683495)x1 copy number loss not provided [RCV001259134] Chr12:191242..4683495 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700) copy number loss not specified [RCV002052963] Chr12:2790077..5325700 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33(chr12:2775404-3044582)x3 copy number gain See cases [RCV003445448] Chr12:2775404..3044582 [GRCh37]
Chr12:12p13.33		 likely benign
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1 copy number loss not specified [RCV003986988] Chr12:2246103..5406692 [GRCh37]
Chr12:12p13.33-13.31		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1990
Count of miRNA genes:713
Interacting mature miRNAs:779
Transcripts:ENST00000366285, ENST00000461997, ENST00000464682, ENST00000489288, ENST00000535978, ENST00000536063, ENST00000538636, ENST00000538700
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
STS-N62451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,998,257 - 2,998,419UniSTSGRCh37
Build 36122,868,518 - 2,868,680RGDNCBI36
Celera124,612,145 - 4,612,307RGD
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map12p13.33UniSTS
HuRef122,855,419 - 2,855,581UniSTS
GeneMap99-GB4 RH Map1218.9UniSTS
NCBI RH Map1238.5UniSTS
RH46379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37122,997,934 - 2,998,134UniSTSGRCh37
Build 36122,868,195 - 2,868,395RGDNCBI36
Celera124,611,822 - 4,612,022RGD
Cytogenetic Map12p13.33UniSTS
HuRef122,855,096 - 2,855,296UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS


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 707 663 1094 190 1066 107 2404 162 1862 295 1366 1153 99 1 148 1473 6 2
Low 1731 2296 631 433 879 357 1953 2008 1872 124 94 460 75 1056 1315
Below cutoff 1 32 1 1 6 1 27

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001252499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_027365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB073599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF386144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF386429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF386459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI631627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM847461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA378594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA679606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA749974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA965227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000366285   ⟹   ENSP00000444654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,223 - 2,887,934 (+)Ensembl
RefSeq Acc Id: ENST00000461997   ⟹   ENSP00000438828
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,199 - 2,889,271 (+)Ensembl
RefSeq Acc Id: ENST00000464682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,208 - 2,889,440 (+)Ensembl
RefSeq Acc Id: ENST00000489288   ⟹   ENSP00000438590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,223 - 2,889,524 (+)Ensembl
RefSeq Acc Id: ENST00000535978   ⟹   ENSP00000442677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,223 - 2,888,007 (+)Ensembl
RefSeq Acc Id: ENST00000536063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,876,258 - 2,888,168 (+)Ensembl
RefSeq Acc Id: ENST00000538636   ⟹   ENSP00000442319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,199 - 2,888,137 (+)Ensembl
RefSeq Acc Id: ENST00000538700   ⟹   ENSP00000445936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,223 - 2,888,057 (+)Ensembl
RefSeq Acc Id: ENST00000618250   ⟹   ENSP00000479598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,877,199 - 2,889,523 (+)Ensembl
RefSeq Acc Id: ENST00000623153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl122,888,001 - 2,889,008 (+)Ensembl
RefSeq Acc Id: NM_001252499   ⟹   NP_001239428
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,877,223 - 2,889,524 (+)NCBI
GRCh37122,985,424 - 2,998,691 (+)NCBI
HuRef122,842,655 - 2,855,853 (+)NCBI
CHM1_1122,985,624 - 2,997,932 (+)NCBI
T2T-CHM13v2.0122,883,234 - 2,895,466 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001252500   ⟹   NP_001239429
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,877,223 - 2,889,524 (+)NCBI
GRCh37122,985,424 - 2,998,691 (+)NCBI
HuRef122,842,655 - 2,855,853 (+)NCBI
CHM1_1122,985,624 - 2,997,932 (+)NCBI
T2T-CHM13v2.0122,883,234 - 2,895,466 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257097   ⟹   NP_001244026
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,877,223 - 2,889,524 (+)NCBI
GRCh37122,985,424 - 2,998,691 (+)NCBI
HuRef122,842,655 - 2,855,853 (+)NCBI
CHM1_1122,985,624 - 2,997,932 (+)NCBI
T2T-CHM13v2.0122,883,234 - 2,895,466 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001257098   ⟹   NP_001244027
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,877,223 - 2,889,524 (+)NCBI
GRCh37122,985,424 - 2,998,691 (+)NCBI
HuRef122,842,655 - 2,855,853 (+)NCBI
CHM1_1122,985,624 - 2,997,932 (+)NCBI
T2T-CHM13v2.0122,883,234 - 2,895,466 (+)NCBI
Sequence:
RefSeq Acc Id: NR_027365
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,877,223 - 2,889,524 (+)NCBI
GRCh37122,985,424 - 2,998,691 (+)NCBI
Celera124,600,319 - 4,612,514 (+)RGD
HuRef122,842,655 - 2,855,853 (+)NCBI
CHM1_1122,985,624 - 2,997,932 (+)NCBI
T2T-CHM13v2.0122,883,234 - 2,895,466 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046432
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,877,223 - 2,889,524 (+)NCBI
GRCh37122,985,424 - 2,998,691 (+)NCBI
HuRef122,842,655 - 2,855,853 (+)NCBI
CHM1_1122,985,624 - 2,997,932 (+)NCBI
T2T-CHM13v2.0122,883,234 - 2,895,466 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046433
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,876,265 - 2,889,524 (+)NCBI
GRCh37122,985,424 - 2,998,691 (+)NCBI
HuRef122,842,655 - 2,855,853 (+)NCBI
CHM1_1122,984,683 - 2,997,932 (+)NCBI
T2T-CHM13v2.0122,882,276 - 2,895,466 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001244026   ⟸   NM_001257097
- Peptide Label: isoform 1
- UniProtKB: B7Z989 (UniProtKB/Swiss-Prot),   Q9BSD3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001244027   ⟸   NM_001257098
- Peptide Label: isoform 1
- UniProtKB: B7Z989 (UniProtKB/Swiss-Prot),   Q9BSD3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001239428   ⟸   NM_001252499
- Peptide Label: isoform 1
- UniProtKB: B7Z989 (UniProtKB/Swiss-Prot),   Q9BSD3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001239429   ⟸   NM_001252500
- Peptide Label: isoform 2
- UniProtKB: Q9BSD3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000442677   ⟸   ENST00000535978
RefSeq Acc Id: ENSP00000444654   ⟸   ENST00000366285
RefSeq Acc Id: ENSP00000442319   ⟸   ENST00000538636
RefSeq Acc Id: ENSP00000445936   ⟸   ENST00000538700
RefSeq Acc Id: ENSP00000479598   ⟸   ENST00000618250
RefSeq Acc Id: ENSP00000438590   ⟸   ENST00000489288
RefSeq Acc Id: ENSP00000438828   ⟸   ENST00000461997

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BSD3-F1-model_v2 AlphaFold Q9BSD3 1-238 view protein structure

Promoters
RGD ID:6790061
Promoter ID:HG_KWN:14737
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_021953,   NM_202002,   NM_202003,   NR_027364,   UC001QLH.1,   UC001QLI.1,   UC009ZEA.1,   UC009ZEB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36122,856,106 - 2,856,837 (-)MPROMDB
RGD ID:6851946
Promoter ID:EP73779
Type:multiple initiation site
Name:HS_MGC13204
Description:Hypothetical protein MGC13204.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36122,856,650 - 2,856,710EPD
RGD ID:7222767
Promoter ID:EPDNEW_H17129
Type:initiation region
Name:RHNO1_1
Description:RAD9-HUS1-RAD1 interacting nuclear orphan 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17131  EPDNEW_H17130  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,877,223 - 2,877,283EPDNEW
RGD ID:7222771
Promoter ID:EPDNEW_H17130
Type:initiation region
Name:RHNO1_3
Description:RAD9-HUS1-RAD1 interacting nuclear orphan 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17129  EPDNEW_H17131  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,878,421 - 2,878,481EPDNEW
RGD ID:7222769
Promoter ID:EPDNEW_H17131
Type:initiation region
Name:RHNO1_2
Description:RAD9-HUS1-RAD1 interacting nuclear orphan 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17129  EPDNEW_H17130  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38122,888,745 - 2,888,805EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28206 AgrOrtholog
COSMIC RHNO1 COSMIC
Ensembl Genes ENSG00000171792 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000366285.5 UniProtKB/TrEMBL
  ENST00000461997 ENTREZGENE
  ENST00000461997.5 UniProtKB/Swiss-Prot
  ENST00000464682 ENTREZGENE
  ENST00000489288 ENTREZGENE
  ENST00000489288.7 UniProtKB/Swiss-Prot
  ENST00000535978.5 UniProtKB/TrEMBL
  ENST00000538636.5 UniProtKB/TrEMBL
  ENST00000538700.2 UniProtKB/TrEMBL
  ENST00000618250 ENTREZGENE
  ENST00000618250.4 UniProtKB/Swiss-Prot
GTEx ENSG00000171792 GTEx
HGNC ID HGNC:28206 ENTREZGENE
Human Proteome Map RHNO1 Human Proteome Map
InterPro RHNO1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:83695 UniProtKB/Swiss-Prot
NCBI Gene 83695 ENTREZGENE
OMIM 614085 OMIM
PANTHER PTHR35541 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAD9, HUS1, RAD1-INTERACTING NUCLEAR ORPHAN PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RHINO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485362 PharmGKB
UniProt B7Z989 ENTREZGENE
  F5H0U1_HUMAN UniProtKB/TrEMBL
  F5H580_HUMAN UniProtKB/TrEMBL
  F5H795_HUMAN UniProtKB/TrEMBL
  F5H7S2_HUMAN UniProtKB/TrEMBL
  Q9BSD3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B7Z989 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-09-19 RHNO1  RAD9-HUS1-RAD1 interacting nuclear orphan 1  C12orf32  chromosome 12 open reading frame 32  Symbol and/or name change 5135510 APPROVED