C1orf35 (chromosome 1 open reading frame 35) - Rat Genome Database

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Gene: C1orf35 (chromosome 1 open reading frame 35) Homo sapiens
Analyze
Symbol: C1orf35
Name: chromosome 1 open reading frame 35
RGD ID: 1312112
HGNC Page HGNC:19032
Description: Enables RNA binding activity. Predicted to be located in extracellular region; ficolin-1-rich granule lumen; and secretory granule lumen.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hMMTAG2; MGC4174; MMTAG2; multiple myeloma transforming 2; multiple myeloma tumor-associated protein 2
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
GRCh381228,100,731 - 228,103,325 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,100,726 - 228,105,411 (-)EnsemblGRCh38hg38GRCh38
GRCh371228,288,432 - 228,291,026 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,355,051 - 226,357,645 (-)NCBINCBI36Build 36hg18NCBI36
Build 341224,595,163 - 224,597,757NCBI
Celera1201,478,660 - 201,481,254 (-)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,803,549 - 198,806,143 (-)NCBIHuRef
CHM1_11229,560,773 - 229,563,367 (-)NCBICHM1_1
T2T-CHM13v2.01227,289,717 - 227,292,311 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:12477932   PMID:12545221   PMID:14702039   PMID:15489334   PMID:15635413   PMID:16189514   PMID:16196087   PMID:16710414   PMID:19060904   PMID:21044950   PMID:21081503   PMID:21139048  
PMID:21145461   PMID:21244100   PMID:21516116   PMID:21832049   PMID:21873635   PMID:22658674   PMID:22681889   PMID:23602568   PMID:24366813   PMID:24778252   PMID:24965446   PMID:24981860  
PMID:24999758   PMID:25416956   PMID:25468996   PMID:25825154   PMID:26186194   PMID:26496610   PMID:26549023   PMID:26638075   PMID:27976729   PMID:28186131   PMID:28695742   PMID:28718761  
PMID:28977666   PMID:29180619   PMID:29298432   PMID:29509190   PMID:29676528   PMID:29777862   PMID:29802200   PMID:29934401   PMID:30196744   PMID:30209976   PMID:30404004   PMID:30415952  
PMID:30463901   PMID:30633125   PMID:30940648   PMID:30948266   PMID:31059266   PMID:31091453   PMID:31300519   PMID:31391242   PMID:31527615   PMID:31586073   PMID:31753913   PMID:31822558  
PMID:31980649   PMID:32103167   PMID:32203420   PMID:32296183   PMID:32416067   PMID:32513696   PMID:32529326   PMID:32640226   PMID:32694731   PMID:32707033   PMID:32807901   PMID:33301849  
PMID:33545068   PMID:33658012   PMID:33961781   PMID:34079125   PMID:34133714   PMID:34578187   PMID:34650049   PMID:34795231   PMID:35013218   PMID:35819319   PMID:35844135   PMID:35850772  
PMID:35944360   PMID:36030824   PMID:36057605   PMID:36114006   PMID:36215168   PMID:36244648   PMID:36373674   PMID:36424410   PMID:36537216   PMID:36574265   PMID:37616343   PMID:37689310  
PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
C1orf35
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381228,100,731 - 228,103,325 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1228,100,726 - 228,105,411 (-)EnsemblGRCh38hg38GRCh38
GRCh371228,288,432 - 228,291,026 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361226,355,051 - 226,357,645 (-)NCBINCBI36Build 36hg18NCBI36
Build 341224,595,163 - 224,597,757NCBI
Celera1201,478,660 - 201,481,254 (-)NCBICelera
Cytogenetic Map1q42.13NCBI
HuRef1198,803,549 - 198,806,143 (-)NCBIHuRef
CHM1_11229,560,773 - 229,563,367 (-)NCBICHM1_1
T2T-CHM13v2.01227,289,717 - 227,292,311 (-)NCBIT2T-CHM13v2.0
2310033P09Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391159,099,187 - 59,101,562 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1159,099,147 - 59,101,564 (+)EnsemblGRCm39 Ensembl
GRCm381159,208,361 - 59,210,736 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1159,208,321 - 59,210,738 (+)EnsemblGRCm38mm10GRCm38
MGSCv371159,021,863 - 59,024,238 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361159,024,556 - 59,026,931 (+)NCBIMGSCv36mm8
Celera1163,973,371 - 63,975,747 (+)NCBICelera
Cytogenetic Map11B1.3NCBI
cM Map1137.05NCBI
C10h1orf35
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81044,494,385 - 44,496,847 (+)NCBIGRCr8
mRatBN7.21043,993,809 - 43,997,287 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1043,993,668 - 43,997,289 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1048,688,663 - 48,691,125 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01048,179,021 - 48,181,483 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01043,682,619 - 43,685,081 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01045,558,491 - 45,562,004 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1045,559,578 - 45,561,997 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01045,313,973 - 45,317,474 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41045,512,640 - 45,515,066 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11045,526,239 - 45,528,617 (+)NCBI
Celera1043,258,111 - 43,260,537 (+)NCBICelera
Cytogenetic Map10q22NCBI
LOC102015579
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955581316,513 - 318,706 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955581316,424 - 319,109 (+)NCBIChiLan1.0ChiLan1.0
C1H1orf35
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2121,503,004 - 21,505,719 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1121,441,215 - 21,443,906 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01203,502,917 - 203,505,504 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11208,713,632 - 208,716,841 (-)NCBIpanpan1.1PanPan1.1panPan2
C14H1orf35
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114832,005 - 833,681 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14831,997 - 833,670 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha14317,827 - 320,084 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014551,977 - 554,242 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl14551,259 - 553,926 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.114742,786 - 745,055 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014523,606 - 525,848 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014509,502 - 511,779 (+)NCBIUU_Cfam_GSD_1.0
CUNH1orf35
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721387,772,078 - 87,775,509 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936864114,316 - 118,428 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936864113,303 - 116,785 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C2H1orf35
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl251,239,018 - 51,241,337 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1251,238,918 - 51,241,344 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2253,870,690 - 53,873,274 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH1orf35
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1251,624,507 - 1,627,363 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl251,624,862 - 1,628,643 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660551,505,993 - 1,508,831 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH1orf35
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624937873,226 - 877,254 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624937873,257 - 877,252 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C1orf35
2 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3 copy number gain See cases [RCV000050581] Chr1:223347693..248918469 [GRCh38]
Chr1:223521035..249212668 [GRCh37]
Chr1:221587658..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:221902539-248918469)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051875]|See cases [RCV000051875] Chr1:221902539..248918469 [GRCh38]
Chr1:222075881..249212668 [GRCh37]
Chr1:220142504..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3 copy number gain See cases [RCV000051878] Chr1:223828500..248891309 [GRCh38]
Chr1:224016202..249185508 [GRCh37]
Chr1:222082825..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3 copy number gain See cases [RCV000051880] Chr1:223887780..248891309 [GRCh38]
Chr1:224075482..249185508 [GRCh37]
Chr1:222142105..247152131 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3 copy number gain See cases [RCV000051882] Chr1:224096488..248918469 [GRCh38]
Chr1:224284190..249212668 [GRCh37]
Chr1:222350813..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:221519280-228862141)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053955]|See cases [RCV000053955] Chr1:221519280..228862141 [GRCh38]
Chr1:221692622..228997888 [GRCh37]
Chr1:219759245..227064511 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh38/hg38 1q42.13(chr1:227613596-229249335)x4 copy number gain See cases [RCV000134940] Chr1:227613596..229249335 [GRCh38]
Chr1:227801297..229385082 [GRCh37]
Chr1:225867920..227451705 [NCBI36]
Chr1:1q42.13		 likely pathogenic|uncertain significance
GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3 copy number gain See cases [RCV000135839] Chr1:223815147..248918469 [GRCh38]
Chr1:224002849..249212668 [GRCh37]
Chr1:222069472..247179291 [NCBI36]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1 copy number loss See cases [RCV000135796] Chr1:226185124..232872488 [GRCh38]
Chr1:226372825..233008234 [GRCh37]
Chr1:224439448..231074857 [NCBI36]
Chr1:1q42.12-42.2		 pathogenic
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1 copy number loss See cases [RCV000136636] Chr1:223347693..228556332 [GRCh38]
Chr1:223521035..228744033 [GRCh37]
Chr1:221587658..226810656 [NCBI36]
Chr1:1q41-42.13		 pathogenic
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 copy number gain See cases [RCV000137769] Chr1:224022862..248918469 [GRCh38]
Chr1:224210564..249212668 [GRCh37]
Chr1:222277187..247179291 [NCBI36]
Chr1:1q42.11-44		 pathogenic
GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3 copy number gain See cases [RCV000142448] Chr1:225438480..248787200 [GRCh38]
Chr1:225626182..249060210 [GRCh37]
Chr1:223692805..247048022 [NCBI36]
Chr1:1q42.12-44		 pathogenic
GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1 copy number loss See cases [RCV000143223] Chr1:225382172..230418801 [GRCh38]
Chr1:225569874..230554547 [GRCh37]
Chr1:223636497..228621170 [NCBI36]
Chr1:1q42.12-42.13		 pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44		 pathogenic
GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 copy number gain See cases [RCV000240137] Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13		 pathogenic
GRCh37/hg19 1q42.12-42.13(chr1:226871745-229906954)x1 copy number loss See cases [RCV000240001] Chr1:226871745..229906954 [GRCh37]
Chr1:1q42.12-42.13		 uncertain significance
GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 copy number gain See cases [RCV000449172] Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q41-44(chr1:214697099-249224684)x3 copy number gain See cases [RCV000449210] Chr1:214697099..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.11-44(chr1:224105294-249224684)x3 copy number gain See cases [RCV000510981] Chr1:224105294..249224684 [GRCh37]
Chr1:1q42.11-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227774916-228335196)x3 copy number gain See cases [RCV000511279] Chr1:227774916..228335196 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q41-44(chr1:218252551-249224684)x3 copy number gain not provided [RCV000684700] Chr1:218252551..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227696109-229152386)x3 copy number gain not provided [RCV000684706] Chr1:227696109..229152386 [GRCh37]
Chr1:1q42.13		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q42.13(chr1:228260287-228617063)x1 copy number loss not provided [RCV000736887] Chr1:228260287..228617063 [GRCh37]
Chr1:1q42.13		 benign
GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1 copy number loss not provided [RCV001005180] Chr1:223653722..234591807 [GRCh37]
Chr1:1q41-42.2		 pathogenic
GRCh37/hg19 1q42.13(chr1:228297613-228703236) copy number gain Aortic valve disease 1 [RCV000770940] Chr1:228297613..228703236 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228235107-228983659)x3 copy number gain not provided [RCV000848102] Chr1:228235107..228983659 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 copy number gain not provided [RCV000845852] Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44		 pathogenic
GRCh37/hg19 1q42.13(chr1:227772973-228326173)x3 copy number gain not provided [RCV000847140] Chr1:227772973..228326173 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3 copy number gain not provided [RCV001005175] Chr1:219916966..239004378 [GRCh37]
Chr1:1q41-43		 pathogenic
GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 copy number gain See cases [RCV001007407] Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44		 pathogenic
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 copy number gain See cases [RCV001194578] Chr1:210152794..249218992 [GRCh37]
Chr1:1q32.2-44		 pathogenic
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q42.13(chr1:227782268-229506509)x1 copy number loss not provided [RCV001795846] Chr1:227782268..229506509 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.12-42.2(chr1:226131690-231908227) copy number loss not specified [RCV002052878] Chr1:226131690..231908227 [GRCh37]
Chr1:1q42.12-42.2		 likely pathogenic
GRCh37/hg19 1q42.13-42.2(chr1:228214912-231483538) copy number loss not specified [RCV002052889] Chr1:228214912..231483538 [GRCh37]
Chr1:1q42.13-42.2		 pathogenic
NC_000001.10:g.(?_228194830)_(228566496_?)dup duplication Multiple mitochondrial dysfunctions syndrome 3 [RCV001943243]|not provided [RCV001919147] Chr1:228194830..228566496 [GRCh37]
Chr1:1q42.13		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 copy number gain See cases [RCV002287837] Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44		 pathogenic
GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3 copy number gain not provided [RCV002475638] Chr1:227992928..236659905 [GRCh37]
Chr1:1q42.13-43		 likely pathogenic
GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3 copy number gain not provided [RCV002475745] Chr1:223972939..249224684 [GRCh37]
Chr1:1q41-44		 pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13		 association
GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3 copy number gain not provided [RCV002509019] Chr1:224230307..243181599 [GRCh37]
Chr1:1q42.11-43		 not provided
NM_024319.4(C1orf35):c.562G>C (p.Glu188Gln) single nucleotide variant Inborn genetic diseases [RCV002718957] Chr1:228101445 [GRCh38]
Chr1:228289146 [GRCh37]
Chr1:1q42.13		 uncertain significance
NM_024319.4(C1orf35):c.676C>A (p.His226Asn) single nucleotide variant Inborn genetic diseases [RCV002717964] Chr1:228101247 [GRCh38]
Chr1:228288948 [GRCh37]
Chr1:1q42.13		 uncertain significance
GRCh37/hg19 1q42.13(chr1:228215364-229747702)x1 copy number loss not specified [RCV003986606] Chr1:228215364..229747702 [GRCh37]
Chr1:1q42.13		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2099
Count of miRNA genes:794
Interacting mature miRNAs:954
Transcripts:ENST00000272139, ENST00000465199, ENST00000469781, ENST00000472617, ENST00000485896, ENST00000491293, ENST00000492757
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
SHGC-76467  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,288,479 - 228,288,579UniSTSGRCh37
Build 361226,355,102 - 226,355,202RGDNCBI36
Celera1201,478,711 - 201,478,811RGD
Cytogenetic Map1q42.13UniSTS
HuRef1198,803,600 - 198,803,700UniSTS
TNG Radiation Hybrid Map1114563.0UniSTS
GeneMap99-GB4 RH Map1722.73UniSTS
GeneMap99-GB4 RH Map1722.13UniSTS
Whitehead-RH Map1888.4UniSTS
SHGC-76454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371228,292,101 - 228,292,230UniSTSGRCh37
Build 361226,358,724 - 226,358,853RGDNCBI36
Celera1201,482,333 - 201,482,462RGD
Cytogenetic Map1q42.13UniSTS
HuRef1198,807,222 - 198,807,351UniSTS
TNG Radiation Hybrid Map1114560.0UniSTS
GeneMap99-GB4 RH Map1720.07UniSTS
NCBI RH Map12074.2UniSTS


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 1053 749 994 149 726 92 2838 461 1720 154 1280 1179 70 398 1709 2
Low 1384 2235 731 475 1220 372 1518 1734 1992 265 177 431 103 806 1079 3 2
Below cutoff 5 5 1 12 3 2 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000272139   ⟹   ENSP00000272139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,100,731 - 228,103,325 (-)Ensembl
RefSeq Acc Id: ENST00000465199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,102,056 - 228,103,447 (-)Ensembl
RefSeq Acc Id: ENST00000469781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,100,726 - 228,103,441 (-)Ensembl
RefSeq Acc Id: ENST00000472617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,100,733 - 228,105,411 (-)Ensembl
RefSeq Acc Id: ENST00000485896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,100,731 - 228,103,320 (-)Ensembl
RefSeq Acc Id: ENST00000491293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,102,242 - 228,103,389 (-)Ensembl
RefSeq Acc Id: ENST00000492757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1228,101,413 - 228,103,002 (-)Ensembl
RefSeq Acc Id: NM_024319   ⟹   NP_077295
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,100,731 - 228,103,325 (-)NCBI
GRCh371228,288,428 - 228,293,112 (-)NCBI
Build 361226,355,051 - 226,357,645 (-)NCBI Archive
Celera1201,478,660 - 201,481,254 (-)RGD
HuRef1198,803,549 - 198,806,143 (-)RGD
CHM1_11229,560,773 - 229,563,508 (-)NCBI
T2T-CHM13v2.01227,289,717 - 227,292,311 (-)NCBI
Sequence:
RefSeq Acc Id: NR_130975
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,100,731 - 228,103,325 (-)NCBI
CHM1_11229,560,773 - 229,563,508 (-)NCBI
T2T-CHM13v2.01227,289,717 - 227,292,311 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_077295   ⟸   NM_024319
- UniProtKB: Q6ZWA6 (UniProtKB/Swiss-Prot),   Q6ZTZ6 (UniProtKB/Swiss-Prot),   Q6P5Y0 (UniProtKB/Swiss-Prot),   Q8IZH3 (UniProtKB/Swiss-Prot),   Q9BU76 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000272139   ⟸   ENST00000272139

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BU76-F1-model_v2 AlphaFold Q9BU76 1-263 view protein structure

Promoters
RGD ID:6785283
Promoter ID:HG_KWN:7683
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000366749,   OTTHUMT00000092245,   OTTHUMT00000092247,   OTTHUMT00000092248,   OTTHUMT00000092249,   OTTHUMT00000092250,   OTTHUMT00000092363,   UC009XEW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361226,357,586 - 226,358,487 (-)MPROMDB
RGD ID:6859178
Promoter ID:EPDNEW_H2754
Type:initiation region
Name:C1orf35_1
Description:chromosome 1 open reading frame 35
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2755  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,103,322 - 228,103,382EPDNEW
RGD ID:6859180
Promoter ID:EPDNEW_H2755
Type:initiation region
Name:C1orf35_2
Description:chromosome 1 open reading frame 35
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H2754  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381228,103,441 - 228,103,501EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19032 AgrOrtholog
COSMIC C1orf35 COSMIC
Ensembl Genes ENSG00000143793 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000272139 ENTREZGENE
  ENST00000272139.5 UniProtKB/Swiss-Prot
GTEx ENSG00000143793 GTEx
HGNC ID HGNC:19032 ENTREZGENE
Human Proteome Map C1orf35 Human Proteome Map
InterPro MMTA2_N UniProtKB/Swiss-Prot
  MMTAG2-like UniProtKB/Swiss-Prot
KEGG Report hsa:79169 UniProtKB/Swiss-Prot
NCBI Gene 79169 ENTREZGENE
PANTHER MULTIPLE MYELOMA TUMOR-ASSOCIATED PROTEIN 2 UniProtKB/Swiss-Prot
  PTHR14580 UniProtKB/Swiss-Prot
Pfam MMtag UniProtKB/Swiss-Prot
PharmGKB PA38781 PharmGKB
UniProt MMTA2_HUMAN UniProtKB/Swiss-Prot
  Q6P5Y0 ENTREZGENE
  Q6ZTZ6 ENTREZGENE
  Q6ZWA6 ENTREZGENE
  Q8IZH3 ENTREZGENE
  Q9BU76 ENTREZGENE
UniProt Secondary Q6P5Y0 UniProtKB/Swiss-Prot
  Q6ZTZ6 UniProtKB/Swiss-Prot
  Q6ZWA6 UniProtKB/Swiss-Prot
  Q8IZH3 UniProtKB/Swiss-Prot