RCCD1 (RCC1 domain containing 1) - Rat Genome Database

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Gene: RCCD1 (RCC1 domain containing 1) Homo sapiens
Analyze
Symbol: RCCD1
Name: RCC1 domain containing 1
RGD ID: 1605899
HGNC Page HGNC:30457
Description: Predicted to be involved in chromatin organization. Located in cytosol and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC14386; RCC1 domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,954,884 - 90,963,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,954,881 - 90,963,125 (+)EnsemblGRCh38hg38GRCh38
GRCh371591,498,114 - 91,506,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,299,110 - 89,307,359 (+)NCBINCBI36Build 36hg18NCBI36
Celera1567,907,324 - 67,915,571 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,609,125 - 67,617,372 (+)NCBIHuRef
CHM1_11591,339,718 - 91,347,965 (+)NCBICHM1_1
T2T-CHM13v2.01588,714,467 - 88,722,708 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
chromosome  (IEA)
cytosol  (IDA,TAS)
plasma membrane  (IDA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:16572171   PMID:18029348   PMID:22939629   PMID:24981860   PMID:25038754   PMID:26186194   PMID:28362817   PMID:28455245   PMID:28514442  
PMID:29563586   PMID:31582214   PMID:32129710   PMID:33853758   PMID:33961781   PMID:35831314   PMID:37314216  


Genomics

Comparative Map Data
RCCD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381590,954,884 - 90,963,125 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1590,954,881 - 90,963,125 (+)EnsemblGRCh38hg38GRCh38
GRCh371591,498,114 - 91,506,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,299,110 - 89,307,359 (+)NCBINCBI36Build 36hg18NCBI36
Celera1567,907,324 - 67,915,571 (+)NCBICelera
Cytogenetic Map15q26.1NCBI
HuRef1567,609,125 - 67,617,372 (+)NCBIHuRef
CHM1_11591,339,718 - 91,347,965 (+)NCBICHM1_1
T2T-CHM13v2.01588,714,467 - 88,722,708 (+)NCBIT2T-CHM13v2.0
Rccd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39779,944,339 - 79,974,512 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl779,942,977 - 79,974,202 (-)EnsemblGRCm39 Ensembl
GRCm38780,294,591 - 80,324,687 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl780,293,229 - 80,324,454 (-)EnsemblGRCm38mm10GRCm38
MGSCv37787,461,502 - 87,469,340 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36780,190,147 - 80,197,937 (-)NCBIMGSCv36mm8
MGSCv36769,811,614 - 69,819,408 (-)NCBIMGSCv36mm8
Celera777,717,245 - 77,726,089 (-)NCBICelera
Cytogenetic Map7D2NCBI
cM Map745.64NCBI
Rccd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81143,681,124 - 143,690,817 (-)NCBIGRCr8
mRatBN7.21134,271,870 - 134,281,556 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1134,271,857 - 134,280,781 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01142,109,066 - 142,118,452 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1142,109,252 - 142,114,634 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01143,061,330 - 143,070,704 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41136,134,226 - 136,139,608 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11136,212,628 - 136,222,391 (-)NCBI
Celera1126,332,726 - 126,341,496 (-)NCBICelera
Cytogenetic Map1q31NCBI
Rccd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541615,014,340 - 15,019,173 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541615,013,595 - 15,020,038 (+)NCBIChiLan1.0ChiLan1.0
RCCD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21680,508,691 - 80,542,204 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11584,207,322 - 84,243,126 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01569,648,220 - 69,682,408 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11588,845,268 - 88,856,326 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1588,847,116 - 88,852,057 (+)Ensemblpanpan1.1panPan2
RCCD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1353,287,343 - 53,292,673 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha355,925,094 - 55,931,476 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0353,703,475 - 53,709,860 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl353,704,174 - 53,709,220 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1353,222,739 - 53,227,948 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0353,433,859 - 53,440,230 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0353,774,339 - 53,780,725 (-)NCBIUU_Cfam_GSD_1.0
Rccd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640130,262,560 - 130,273,451 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648316,065,512 - 16,070,424 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648316,049,288 - 16,071,275 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RCCD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl753,547,077 - 53,558,076 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1753,546,666 - 53,557,718 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2758,578,216 - 58,588,277 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RCCD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1298,895,873 - 8,907,436 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl298,899,949 - 8,907,248 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605937,818,646 - 37,840,993 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rccd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476817,293,628 - 17,298,435 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476817,284,150 - 17,300,123 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RCCD1
40 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3 copy number gain See cases [RCV000142727] Chr15:88676575..98364743 [GRCh38]
Chr15:89219806..98907972 [GRCh37]
Chr15:87020810..96725495 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.1(chr15:88295992-94215607)x1 copy number loss See cases [RCV000448680] Chr15:88295992..94215607 [GRCh37]
Chr15:15q25.3-26.1		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86899001-98734014)x3 copy number gain See cases [RCV000511629] Chr15:86899001..98734014 [GRCh37]
Chr15:15q25.3-26.3		 likely pathogenic
NM_001017919.2(RCCD1):c.418G>A (p.Ala140Thr) single nucleotide variant not specified [RCV004290231] Chr15:90957364 [GRCh38]
Chr15:91500594 [GRCh37]
Chr15:15q26.1		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
GRCh37/hg19 15q26.1(chr15:91263414-91502563)x3 copy number gain not provided [RCV000683719] Chr15:91263414..91502563 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_001017919.2(RCCD1):c.745C>T (p.Leu249=) single nucleotide variant not provided [RCV000879390] Chr15:90959965 [GRCh38]
Chr15:91503195 [GRCh37]
Chr15:15q26.1		 benign
GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844) copy number loss not provided [RCV000767759] Chr15:83883823..92165844 [GRCh37]
Chr15:15q25.2-26.1		 pathogenic
NM_001017919.2(RCCD1):c.1032C>T (p.Arg344=) single nucleotide variant not provided [RCV000949992] Chr15:90961670 [GRCh38]
Chr15:91504900 [GRCh37]
Chr15:15q26.1		 benign
NM_001017919.2(RCCD1):c.378C>T (p.Ala126=) single nucleotide variant not provided [RCV000949589] Chr15:90957324 [GRCh38]
Chr15:91500554 [GRCh37]
Chr15:15q26.1		 benign
NM_001017919.2(RCCD1):c.589G>A (p.Ala197Thr) single nucleotide variant not specified [RCV004318574] Chr15:90957635 [GRCh38]
Chr15:91500865 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91276782-91550953)x1 copy number loss not provided [RCV000849368] Chr15:91276782..91550953 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NC_000015.10:g.(?_90782812)_(90968837_?)dup duplication Bloom syndrome [RCV001033731] Chr15:91326042..91512067 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1 copy number loss not provided [RCV000847986] Chr15:91229877..93677014 [GRCh37]
Chr15:15q26.1		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_001017919.2(RCCD1):c.935C>T (p.Thr312Ile) single nucleotide variant not specified [RCV004324583] Chr15:90960484 [GRCh38]
Chr15:91503714 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NC_000015.9:g.(?_91290623)_(91512067_?)dup duplication Bloom syndrome [RCV001327573] Chr15:91290623..91512067 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.1012A>G (p.Thr338Ala) single nucleotide variant not specified [RCV004289359] Chr15:90961650 [GRCh38]
Chr15:91504880 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1 copy number loss not provided [RCV001795547] Chr15:88465861..94411846 [GRCh37]
Chr15:15q25.3-26.2		 pathogenic
GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 copy number loss not provided [RCV001827973] Chr15:89520451..93926491 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_91290623)_(91512067_?)del deletion Bloom syndrome [RCV001949533] Chr15:91290623..91512067 [GRCh37]
Chr15:15q26.1		 pathogenic
NC_000015.9:g.(?_89379429)_(91565479_?)dup duplication D-2-hydroxyglutaric aciduria 2 [RCV003111027]|not provided [RCV003111026] Chr15:89379429..91565479 [GRCh37]
Chr15:15q26.1		 uncertain significance|no classifications from unflagged records
NM_001017919.2(RCCD1):c.601C>A (p.Pro201Thr) single nucleotide variant not specified [RCV004329938] Chr15:90957647 [GRCh38]
Chr15:91500877 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_001017919.2(RCCD1):c.292G>A (p.Val98Ile) single nucleotide variant not specified [RCV004192913] Chr15:90957238 [GRCh38]
Chr15:91500468 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.445C>T (p.Pro149Ser) single nucleotide variant not specified [RCV004109862] Chr15:90957391 [GRCh38]
Chr15:91500621 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.486G>C (p.Gln162His) single nucleotide variant not specified [RCV004146981] Chr15:90957432 [GRCh38]
Chr15:91500662 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.259C>T (p.Arg87Cys) single nucleotide variant not specified [RCV004076053] Chr15:90957205 [GRCh38]
Chr15:91500435 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.1076T>A (p.Val359Asp) single nucleotide variant not specified [RCV004229262] Chr15:90961714 [GRCh38]
Chr15:91504944 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.26G>C (p.Trp9Ser) single nucleotide variant not specified [RCV004071496] Chr15:90956760 [GRCh38]
Chr15:91499990 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.285A>C (p.Leu95Phe) single nucleotide variant not specified [RCV004143167] Chr15:90957231 [GRCh38]
Chr15:91500461 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.1102G>A (p.Val368Met) single nucleotide variant not specified [RCV004237000] Chr15:90961740 [GRCh38]
Chr15:91504970 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.350C>T (p.Pro117Leu) single nucleotide variant not specified [RCV004102688] Chr15:90957296 [GRCh38]
Chr15:91500526 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.820G>A (p.Gly274Ser) single nucleotide variant not specified [RCV004085206] Chr15:90960369 [GRCh38]
Chr15:91503599 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3 copy number gain not provided [RCV003222839] Chr15:67358491..91644328 [GRCh37]
Chr15:15q22.33-26.1		 pathogenic
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
NM_001017919.2(RCCD1):c.32G>C (p.Gly11Ala) single nucleotide variant not specified [RCV004302862] Chr15:90956766 [GRCh38]
Chr15:91499996 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.93C>A (p.Ser31Arg) single nucleotide variant not specified [RCV004317067] Chr15:90956827 [GRCh38]
Chr15:91500057 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_001017919.2(RCCD1):c.457C>T (p.Pro153Ser) single nucleotide variant not specified [RCV004344860] Chr15:90957403 [GRCh38]
Chr15:91500633 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.36C>G (p.Phe12Leu) single nucleotide variant not specified [RCV004344256] Chr15:90956770 [GRCh38]
Chr15:91500000 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.299C>A (p.Ala100Glu) single nucleotide variant not specified [RCV004345815] Chr15:90957245 [GRCh38]
Chr15:91500475 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.30C>A (p.Phe10Leu) single nucleotide variant not specified [RCV004351556] Chr15:90956764 [GRCh38]
Chr15:91499994 [GRCh37]
Chr15:15q26.1		 uncertain significance
GRCh37/hg19 15q26.1(chr15:91488314-91521367)x1 copy number loss not specified [RCV003987089] Chr15:91488314..91521367 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.1085G>C (p.Gly362Ala) single nucleotide variant not specified [RCV004443621] Chr15:90961723 [GRCh38]
Chr15:91504953 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.1066G>A (p.Val356Ile) single nucleotide variant not specified [RCV004443619] Chr15:90961704 [GRCh38]
Chr15:91504934 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.356C>T (p.Ala119Val) single nucleotide variant not specified [RCV004443622] Chr15:90957302 [GRCh38]
Chr15:91500532 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.1071G>T (p.Lys357Asn) single nucleotide variant not specified [RCV004443620] Chr15:90961709 [GRCh38]
Chr15:91504939 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.807G>C (p.Gln269His) single nucleotide variant not specified [RCV004443623] Chr15:90960356 [GRCh38]
Chr15:91503586 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.661C>T (p.His221Tyr) single nucleotide variant not specified [RCV004657975] Chr15:90957707 [GRCh38]
Chr15:91500937 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.211G>A (p.Gly71Ser) single nucleotide variant not specified [RCV004657976] Chr15:90957157 [GRCh38]
Chr15:91500387 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.1088C>T (p.Pro363Leu) single nucleotide variant not specified [RCV004862898] Chr15:90961726 [GRCh38]
Chr15:91504956 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.665C>G (p.Ser222Cys) single nucleotide variant not specified [RCV004862900] Chr15:90957711 [GRCh38]
Chr15:91500941 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.205G>C (p.Ala69Pro) single nucleotide variant not specified [RCV004862899] Chr15:90957151 [GRCh38]
Chr15:91500381 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.845C>T (p.Ala282Val) single nucleotide variant not specified [RCV004862901] Chr15:90960394 [GRCh38]
Chr15:91503624 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004862902] Chr15:90956739 [GRCh38]
Chr15:91499969 [GRCh37]
Chr15:15q26.1		 uncertain significance
NM_001017919.2(RCCD1):c.968C>T (p.Thr323Ile) single nucleotide variant not specified [RCV004849793] Chr15:90961043 [GRCh38]
Chr15:91504273 [GRCh37]
Chr15:15q26.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2556
Count of miRNA genes:988
Interacting mature miRNAs:1192
Transcripts:ENST00000394258, ENST00000554302, ENST00000555155, ENST00000555737, ENST00000556333, ENST00000556618, ENST00000556774, ENST00000557266, ENST00000557750
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597092790GWAS1188864_Htype 2 diabetes mellitus QTL GWAS1188864 (human)0.000004type 2 diabetes mellitus159096254990962550Human
597050670GWAS1146744_HRed cell distribution width QTL GWAS1146744 (human)1e-300Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)159095915390959154Human
597149326GWAS1245400_Hprostate carcinoma QTL GWAS1245400 (human)4e-13prostate carcinoma159096254990962550Human
597148285GWAS1244359_Hprostate carcinoma QTL GWAS1244359 (human)1e-09prostate carcinoma159096254990962550Human
597284389GWAS1380463_Hglucose measurement QTL GWAS1380463 (human)2e-08glucose measurementblood glucose level (CMO:0000046)159096254990962550Human
407382837GWAS1031813_Hobsolete_red blood cell distribution width QTL GWAS1031813 (human)1e-300obsolete_red blood cell distribution width159095915390959154Human
596955082GWAS1074601_HRed cell distribution width QTL GWAS1074601 (human)1e-300Red cell distribution width159095915390959154Human
597261574GWAS1357648_Hmean corpuscular hemoglobin QTL GWAS1357648 (human)6e-09mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)159095675690956757Human

Markers in Region
A003P05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,505,421 - 91,505,562UniSTSGRCh37
Build 361589,306,425 - 89,306,566RGDNCBI36
Celera1567,914,637 - 67,914,778RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,616,438 - 67,616,579UniSTS
GeneMap99-GB4 RH Map15323.22UniSTS
Whitehead-RH Map15343.7UniSTS
NCBI RH Map15673.1UniSTS
RH44518  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,505,165 - 91,505,284UniSTSGRCh37
Build 361589,306,169 - 89,306,288RGDNCBI36
Celera1567,914,381 - 67,914,500RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,616,182 - 67,616,301UniSTS
GeneMap99-GB4 RH Map15323.22UniSTS
NCBI RH Map15695.6UniSTS
D15S1226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371591,497,143 - 91,497,317UniSTSGRCh37
Build 361589,298,147 - 89,298,321RGDNCBI36
Celera1567,906,361 - 67,906,535RGD
Cytogenetic Map15q26.1UniSTS
HuRef1567,608,157 - 67,608,331UniSTS
GeneMap99-GB4 RH Map15322.91UniSTS
Whitehead-RH Map15343.6UniSTS
NCBI RH Map15676.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2250 4972 1726 2351 5 624 1949 465 2269 7299 6465 53 3734 1 851 1743 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001017919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA564459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL110105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL527085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ924078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU850147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX375216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000394258   ⟹   ENSP00000377801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,954,884 - 90,963,125 (+)Ensembl
Ensembl Acc Id: ENST00000554302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,955,393 - 90,957,106 (+)Ensembl
Ensembl Acc Id: ENST00000555155   ⟹   ENSP00000450678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,954,881 - 90,962,324 (+)Ensembl
Ensembl Acc Id: ENST00000555737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,954,884 - 90,962,222 (+)Ensembl
Ensembl Acc Id: ENST00000556333   ⟹   ENSP00000451365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,956,740 - 90,961,769 (+)Ensembl
Ensembl Acc Id: ENST00000556618   ⟹   ENSP00000451963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,955,796 - 90,962,221 (+)Ensembl
Ensembl Acc Id: ENST00000556774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,954,889 - 90,959,978 (+)Ensembl
Ensembl Acc Id: ENST00000557266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,955,382 - 90,962,342 (+)Ensembl
Ensembl Acc Id: ENST00000557750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1590,959,752 - 90,961,973 (+)Ensembl
RefSeq Acc Id: NM_001017919   ⟹   NP_001017919
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,954,884 - 90,963,125 (+)NCBI
GRCh371591,498,106 - 91,506,355 (+)RGD
Build 361589,299,110 - 89,307,359 (+)NCBI Archive
Celera1567,907,324 - 67,915,571 (+)RGD
HuRef1567,609,125 - 67,617,372 (+)RGD
CHM1_11591,339,718 - 91,347,965 (+)NCBI
T2T-CHM13v2.01588,714,467 - 88,722,708 (+)NCBI
Sequence:
RefSeq Acc Id: NM_033544   ⟹   NP_291022
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,954,884 - 90,963,125 (+)NCBI
GRCh371591,498,106 - 91,506,355 (+)RGD
Build 361589,299,110 - 89,307,359 (+)NCBI Archive
Celera1567,907,324 - 67,915,571 (+)RGD
HuRef1567,609,125 - 67,617,372 (+)RGD
CHM1_11591,339,718 - 91,347,965 (+)NCBI
T2T-CHM13v2.01588,714,467 - 88,722,708 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433316   ⟹   XP_047289272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,954,884 - 90,963,125 (+)NCBI
RefSeq Acc Id: XM_047433317   ⟹   XP_047289273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,954,884 - 90,963,125 (+)NCBI
RefSeq Acc Id: XM_047433318   ⟹   XP_047289274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,954,884 - 90,957,724 (+)NCBI
RefSeq Acc Id: XM_054379171   ⟹   XP_054235146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,714,879 - 88,722,708 (+)NCBI
RefSeq Acc Id: XM_054379172   ⟹   XP_054235147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,714,879 - 88,722,708 (+)NCBI
RefSeq Acc Id: XM_054379173   ⟹   XP_054235148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01588,714,538 - 88,717,307 (+)NCBI
RefSeq Acc Id: NP_291022   ⟸   NM_033544
- UniProtKB: B2RTP9 (UniProtKB/Swiss-Prot),   Q29RX6 (UniProtKB/Swiss-Prot),   A6NED2 (UniProtKB/Swiss-Prot),   G3V2I3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001017919   ⟸   NM_001017919
- UniProtKB: B2RTP9 (UniProtKB/Swiss-Prot),   Q29RX6 (UniProtKB/Swiss-Prot),   A6NED2 (UniProtKB/Swiss-Prot),   G3V2I3 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000450678   ⟸   ENST00000555155
Ensembl Acc Id: ENSP00000451365   ⟸   ENST00000556333
Ensembl Acc Id: ENSP00000451963   ⟸   ENST00000556618
Ensembl Acc Id: ENSP00000377801   ⟸   ENST00000394258
RefSeq Acc Id: XP_047289273   ⟸   XM_047433317
- Peptide Label: isoform X1
- UniProtKB: B2RTP9 (UniProtKB/Swiss-Prot),   A6NED2 (UniProtKB/Swiss-Prot),   Q29RX6 (UniProtKB/Swiss-Prot),   G3V2I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289272   ⟸   XM_047433316
- Peptide Label: isoform X1
- UniProtKB: B2RTP9 (UniProtKB/Swiss-Prot),   A6NED2 (UniProtKB/Swiss-Prot),   Q29RX6 (UniProtKB/Swiss-Prot),   G3V2I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289274   ⟸   XM_047433318
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235148   ⟸   XM_054379173
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235147   ⟸   XM_054379172
- Peptide Label: isoform X1
- UniProtKB: B2RTP9 (UniProtKB/Swiss-Prot),   A6NED2 (UniProtKB/Swiss-Prot),   Q29RX6 (UniProtKB/Swiss-Prot),   G3V2I3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235146   ⟸   XM_054379171
- Peptide Label: isoform X1
- UniProtKB: B2RTP9 (UniProtKB/Swiss-Prot),   A6NED2 (UniProtKB/Swiss-Prot),   Q29RX6 (UniProtKB/Swiss-Prot),   G3V2I3 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NED2-F1-model_v2 AlphaFold A6NED2 1-376 view protein structure

Promoters
RGD ID:6792267
Promoter ID:HG_KWN:22355
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:ENST00000394257,   NM_001017919,   NM_033544,   UC002BQL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361589,299,074 - 89,299,574 (+)MPROMDB
RGD ID:6792547
Promoter ID:HG_KWN:22356
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC010BOB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361589,300,076 - 89,301,072 (+)MPROMDB
RGD ID:7230561
Promoter ID:EPDNEW_H21026
Type:initiation region
Name:RCCD1_2
Description:RCC1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21027  EPDNEW_H21028  EPDNEW_H21030  EPDNEW_H21029  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,953,255 - 90,953,315EPDNEW
RGD ID:7230563
Promoter ID:EPDNEW_H21027
Type:initiation region
Name:RCCD1_1
Description:RCC1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21026  EPDNEW_H21028  EPDNEW_H21030  EPDNEW_H21029  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,954,889 - 90,954,949EPDNEW
RGD ID:7230565
Promoter ID:EPDNEW_H21028
Type:initiation region
Name:RCCD1_4
Description:RCC1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21026  EPDNEW_H21027  EPDNEW_H21030  EPDNEW_H21029  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,955,354 - 90,955,414EPDNEW
RGD ID:7230569
Promoter ID:EPDNEW_H21029
Type:multiple initiation site
Name:RCCD1_5
Description:RCC1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21026  EPDNEW_H21027  EPDNEW_H21028  EPDNEW_H21030  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,955,630 - 90,955,690EPDNEW
RGD ID:7230567
Promoter ID:EPDNEW_H21030
Type:initiation region
Name:RCCD1_3
Description:RCC1 domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21026  EPDNEW_H21027  EPDNEW_H21028  EPDNEW_H21029  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381590,956,724 - 90,956,784EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30457 AgrOrtholog
COSMIC RCCD1 COSMIC
Ensembl Genes ENSG00000166965 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000394258 ENTREZGENE
  ENST00000394258.7 UniProtKB/Swiss-Prot
  ENST00000555155.5 UniProtKB/TrEMBL
  ENST00000556333.1 UniProtKB/TrEMBL
  ENST00000556618 ENTREZGENE
  ENST00000556618.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.130.10.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166965 GTEx
HGNC ID HGNC:30457 ENTREZGENE
Human Proteome Map RCCD1 Human Proteome Map
InterPro RCC1/BLIP-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_domain-containing UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Reg_chr_condens UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91433 UniProtKB/Swiss-Prot
NCBI Gene 91433 ENTREZGENE
OMIM 617997 OMIM
PANTHER RCC1 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  RCC1 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot
  RCC1 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
  RCC1 DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
Pfam RCC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671092 PharmGKB
PRINTS RCCNDNSATION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RCC1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NED2 ENTREZGENE
  B2RTP9 ENTREZGENE
  G3V2I3 ENTREZGENE, UniProtKB/TrEMBL
  G3V3Q4_HUMAN UniProtKB/TrEMBL
  Q29RX6 ENTREZGENE
  RCCD1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RTP9 UniProtKB/Swiss-Prot
  Q29RX6 UniProtKB/Swiss-Prot