C1QTNF9B (C1q and TNF related 9B) - Rat Genome Database

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Gene: C1QTNF9B (C1q and TNF related 9B) Homo sapiens
Analyze
Symbol: C1QTNF9B
Name: C1q and TNF related 9B
RGD ID: 1605504
HGNC Page HGNC:34072
Description: Predicted to enable hormone activity and identical protein binding activity. Predicted to act upstream of or within several processes, including fatty acid oxidation; negative regulation of cell size; and positive regulation of cellular response to insulin stimulus. Predicted to be located in extracellular space. Predicted to be part of collagen trimer.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C1q and tumor necrosis factor related protein 9B; C1q/TNF-related protein 9B; collagen triple helix repeat-containing; complement C1q and tumor necrosis factor-related protein 9B; complement C1q tumor necrosis factor-related protein 9-like; complement C1q tumor necrosis factor-related protein 9B; CTRP9B; MGC117159; RP11-45B20.2
RGD Orthologs
Mouse
Rat
Dog
Pig
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
GRCh381323,891,099 - 23,897,502 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1323,891,099 - 23,897,502 (-)EnsemblGRCh38hg38GRCh38
GRCh371324,465,238 - 24,471,641 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361323,363,428 - 23,369,125 (-)NCBINCBI36Build 36hg18NCBI36
Celera135,528,082 - 5,533,781 (-)NCBICelera
Cytogenetic Map13q12.12NCBI
HuRef135,276,519 - 5,282,222 (-)NCBIHuRef
CHM1_11324,433,584 - 24,439,287 (-)NCBICHM1_1
T2T-CHM13v2.01323,097,537 - 23,108,727 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
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:17544811   PMID:19666007   PMID:21640322   PMID:23376485   PMID:26186194   PMID:28514442   PMID:30764693   PMID:32831639   PMID:33961781   PMID:34514937  


Genomics

Comparative Map Data
C1QTNF9B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381323,891,099 - 23,897,502 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1323,891,099 - 23,897,502 (-)EnsemblGRCh38hg38GRCh38
GRCh371324,465,238 - 24,471,641 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361323,363,428 - 23,369,125 (-)NCBINCBI36Build 36hg18NCBI36
Celera135,528,082 - 5,533,781 (-)NCBICelera
Cytogenetic Map13q12.12NCBI
HuRef135,276,519 - 5,282,222 (-)NCBIHuRef
CHM1_11324,433,584 - 24,439,287 (-)NCBICHM1_1
T2T-CHM13v2.01323,097,537 - 23,108,727 (-)NCBIT2T-CHM13v2.0
C1qtnf9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391461,005,583 - 61,018,318 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1461,005,583 - 61,018,318 (+)EnsemblGRCm39 Ensembl
GRCm381460,768,134 - 60,780,869 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1460,768,134 - 60,780,869 (+)EnsemblGRCm38mm10GRCm38
MGSCv371461,386,971 - 61,399,705 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361459,722,244 - 59,734,978 (+)NCBIMGSCv36mm8
Celera1458,546,595 - 58,559,325 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1431.93NCBI
C1qtnf9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81539,083,883 - 39,099,167 (+)NCBIGRCr8
mRatBN7.21534,907,791 - 34,922,985 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1534,911,286 - 34,922,980 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1536,776,879 - 36,784,636 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01537,927,500 - 37,935,253 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01536,376,449 - 36,384,104 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01541,069,579 - 41,080,961 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1541,069,507 - 41,081,159 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01544,882,217 - 44,893,080 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41539,860,425 - 39,868,076 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1534,616,332 - 34,623,981 (+)NCBICelera
Cytogenetic Map15p12NCBI
LOC609026
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12514,735,370 - 14,748,054 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2514,814,153 - 14,826,650 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02514,867,211 - 14,879,712 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12514,748,751 - 14,761,270 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02514,751,418 - 14,763,919 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02514,799,740 - 14,812,241 (+)NCBIUU_Cfam_GSD_1.0
LOC100522569
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1112,791,855 - 2,803,526 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2112,145,862 - 2,156,840 (-)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in C1QTNF9B
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.12(chr13:23518725-24153706)x1 copy number loss See cases [RCV000050920] Chr13:23518725..24153706 [GRCh38]
Chr13:24092864..24727845 [GRCh37]
Chr13:22990864..23625845 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22904496-24490885)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051232]|See cases [RCV000051232] Chr13:22904496..24490885 [GRCh38]
Chr13:23478635..25065023 [GRCh37]
Chr13:22376635..23963023 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1 copy number loss See cases [RCV000051233] Chr13:22992823..24316005 [GRCh38]
Chr13:23566962..24890143 [GRCh37]
Chr13:22464962..23788143 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 copy number gain See cases [RCV000051234] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051235]|See cases [RCV000051235] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3 copy number gain See cases [RCV000051307] Chr13:22941375..24286142 [GRCh38]
Chr13:23515514..24860280 [GRCh37]
Chr13:22413514..23758280 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3 copy number gain See cases [RCV000051308] Chr13:22980339..24363444 [GRCh38]
Chr13:23554478..24937582 [GRCh37]
Chr13:22452478..23835582 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22992623-24336746)x3 copy number gain See cases [RCV000051309] Chr13:22992623..24336746 [GRCh38]
Chr13:23566762..24910884 [GRCh37]
Chr13:22464762..23808884 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.11-12.12(chr13:19837395-24884509)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052343]|See cases [RCV000052343] Chr13:19837395..24884509 [GRCh38]
Chr13:20411535..25458647 [GRCh37]
Chr13:19309535..24356647 [NCBI36]
Chr13:13q12.11-12.12		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3 copy number gain See cases [RCV000053729] Chr13:18958091..31090460 [GRCh38]
Chr13:19532231..31664597 [GRCh37]
Chr13:18430231..30562597 [NCBI36]
Chr13:13q12.11-12.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3 copy number gain See cases [RCV000053721] Chr13:18676442..37656039 [GRCh38]
Chr13:19250582..38230176 [GRCh37]
Chr13:18148582..37128176 [NCBI36]
Chr13:13q11-13.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x1 copy number loss See cases [RCV000051235] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1 copy number loss See cases [RCV000134057] Chr13:22992950..24336636 [GRCh38]
Chr13:23567089..24910774 [GRCh37]
Chr13:22465089..23808774 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1 copy number loss See cases [RCV000134882] Chr13:23045243..24253602 [GRCh38]
Chr13:23619382..24827740 [GRCh37]
Chr13:22517382..23725740 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3 copy number gain See cases [RCV000135612] Chr13:22764286..24444616 [GRCh38]
Chr13:23338425..25018754 [GRCh37]
Chr13:22236425..23916754 [NCBI36]
Chr13:13q12.12		 likely benign
GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3 copy number gain See cases [RCV000138208] Chr13:22980365..24370481 [GRCh38]
Chr13:23554504..24944619 [GRCh37]
Chr13:22452504..23842619 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3 copy number gain See cases [RCV000137892] Chr13:19671934..40914767 [GRCh38]
Chr13:20246074..41488903 [GRCh37]
Chr13:19144074..40386903 [NCBI36]
Chr13:13q12.11-14.11		 pathogenic
GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3 copy number gain See cases [RCV000138877] Chr13:22943845..24355293 [GRCh38]
Chr13:23517984..24929431 [GRCh37]
Chr13:22415984..23827431 [NCBI36]
Chr13:13q12.12		 uncertain significance|conflicting data from submitters
GRCh38/hg38 13q12.12(chr13:23686720-23915028)x1 copy number loss See cases [RCV000138621] Chr13:23686720..23915028 [GRCh38]
Chr13:24260859..24489167 [GRCh37]
Chr13:23158859..23387167 [NCBI36]
Chr13:13q12.12		 likely benign
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3 copy number gain See cases [RCV000140092] Chr13:22959219..24384434 [GRCh38]
Chr13:23533358..24958572 [GRCh37]
Chr13:22431358..23856572 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3 copy number gain See cases [RCV000139968] Chr13:22980365..24336546 [GRCh38]
Chr13:23554504..24910684 [GRCh37]
Chr13:22452504..23808684 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3 copy number gain See cases [RCV000139971] Chr13:22943845..24336546 [GRCh38]
Chr13:23517984..24910684 [GRCh37]
Chr13:22415984..23808684 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3 copy number gain See cases [RCV000141867] Chr13:18862146..33577351 [GRCh38]
Chr13:19436286..34151488 [GRCh37]
Chr13:18334286..33049488 [NCBI36]
Chr13:13q11-13.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1 copy number loss See cases [RCV000143197] Chr13:19671934..24985872 [GRCh38]
Chr13:20246074..25560010 [GRCh37]
Chr13:19144074..24458010 [NCBI36]
Chr13:13q12.11-12.13		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3 copy number gain See cases [RCV000148116] Chr13:22992823..24336605 [GRCh38]
Chr13:23566962..24910743 [GRCh37]
Chr13:22464962..23808743 [NCBI36]
Chr13:13q12.12		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.12(chr13:23515553-24927971)x1 copy number loss See cases [RCV000258794] Chr13:23515553..24927971 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3 copy number gain Premature ovarian failure [RCV000225145] Chr13:23368834..24815661 [GRCh37]
Chr13:13q12.12		 benign
GRCh37/hg19 13q12.12(chr13:23671134-24896556)x1 copy number loss See cases [RCV000446032] Chr13:23671134..24896556 [GRCh37]
Chr13:13q12.12		 pathogenic
GRCh37/hg19 13q12.12(chr13:23671134-25009594)x3 copy number gain See cases [RCV000240032] Chr13:23671134..25009594 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 copy number loss See cases [RCV000449195] Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q12.12(chr13:23981973-24479811)x3 copy number gain See cases [RCV000447294] Chr13:23981973..24479811 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NC_000013.10:g.(?_23544669)_(24893183_?)del deletion Schizophrenia [RCV000416747] Chr13:23544669..24893183 [GRCh37]
Chr13:22442669..23791183 [NCBI36]
Chr13:13q12.12		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12(chr13:24338224-24641598)x1 copy number loss See cases [RCV000510276] Chr13:24338224..24641598 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q12.12(chr13:23533358-24958572)x1 copy number loss See cases [RCV000510304] Chr13:23533358..24958572 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24928440)x1 copy number loss See cases [RCV000510615] Chr13:23519916..24928440 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q12.12-12.13(chr13:23552966-27027909)x1 copy number loss See cases [RCV000511657] Chr13:23552966..27027909 [GRCh37]
Chr13:13q12.12-12.13		 likely pathogenic
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss See cases [RCV000511873] Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626443] Chr13:24080918..34361992 [GRCh37]
Chr13:13q12.12-13.2		 drug response
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1 copy number loss Cardiomyopathy [RCV000611072] Chr13:23519916..24941516 [GRCh37]
Chr13:13q12.12		 pathogenic
NM_001007537.3(C1QTNF9B):c.125G>T (p.Arg42Ile) single nucleotide variant Inborn genetic diseases [RCV003279426] Chr13:23896862 [GRCh38]
Chr13:24471001 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 copy number loss See cases [RCV000512192] Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q12.12(chr13:23519916-24936848)x1 copy number loss not provided [RCV000683547] Chr13:23519916..24936848 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:20008480-25534121)x1 copy number loss not provided [RCV000683564] Chr13:20008480..25534121 [GRCh37]
Chr13:13q12.11-12.13		 pathogenic
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
GRCh37/hg19 13q12.12(chr13:23525351-24910183)x3 copy number gain not provided [RCV000683546] Chr13:23525351..24910183 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q12.12(chr13:23519916-24936994)x3 copy number gain not provided [RCV000683548] Chr13:23519916..24936994 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
NC_000013.11:g.(?_22968338)_(24323208_?)del deletion Schizophrenia [RCV000754142] Chr13:22968338..24323208 [GRCh38]
Chr13:13q12.12		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12(chr13:23546238-25021200)x3 copy number gain not provided [RCV000750668] Chr13:23546238..25021200 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:24224142-24490921)x1 copy number loss not provided [RCV000750670] Chr13:24224142..24490921 [GRCh37]
Chr13:13q12.12		 benign
NM_001007537.3(C1QTNF9B):c.830G>A (p.Arg277Lys) single nucleotide variant not provided [RCV000972302] Chr13:23891461 [GRCh38]
Chr13:24465600 [GRCh37]
Chr13:13q12.12		 benign
NM_001007537.3(C1QTNF9B):c.957C>T (p.Asp319=) single nucleotide variant not provided [RCV000881709] Chr13:23891334 [GRCh38]
Chr13:24465473 [GRCh37]
Chr13:13q12.12		 benign
NM_001007537.3(C1QTNF9B):c.957C>A (p.Asp319Glu) single nucleotide variant Inborn genetic diseases [RCV003290217] Chr13:23891334 [GRCh38]
Chr13:24465473 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24926597)x1 copy number loss not provided [RCV000846686] Chr13:23506404..24926597 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q11-12.12(chr13:19436286-24970361)x1 copy number loss not provided [RCV001006544] Chr13:19436286..24970361 [GRCh37]
Chr13:13q11-12.12		 pathogenic
GRCh37/hg19 13q12.12(chr13:23506404-24928440)x1 copy number loss not provided [RCV000846619] Chr13:23506404..24928440 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24925728)x1 copy number loss not provided [RCV000846318] Chr13:23506404..24925728 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:23506404-24909793)x1 copy number loss not provided [RCV000847939] Chr13:23506404..24909793 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.12(chr13:24217091-24495140)x1 copy number loss not provided [RCV000848048] Chr13:24217091..24495140 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3 copy number gain not provided [RCV000847640] Chr13:20069228..27474401 [GRCh37]
Chr13:13q12.11-12.13		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12(chr13:23482111-24896608)x1 copy number loss not provided [RCV001006551] Chr13:23482111..24896608 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.727T>A (p.Cys243Ser) single nucleotide variant not provided [RCV000955460] Chr13:23891564 [GRCh38]
Chr13:24465703 [GRCh37]
Chr13:13q12.12		 benign
GRCh37/hg19 13q12.12(chr13:23529865-24963501)x3 copy number gain not provided [RCV001006552] Chr13:23529865..24963501 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3 copy number gain not provided [RCV001258538] Chr13:23775339..30534624 [GRCh37]
Chr13:13q12.12-12.3		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.11-12.13(chr13:22423865-25504992)x3 copy number gain not provided [RCV001270639] Chr13:22423865..25504992 [GRCh37]
Chr13:13q12.11-12.13		 uncertain significance
NC_000013.11:g.22924987_24337204del deletion See cases [RCV003313804] Chr13:22924987..24337204 [GRCh38]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q12.12(chr13:23981973-24479811) copy number gain not specified [RCV002053040] Chr13:23981973..24479811 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12(chr13:23553363-24970361)x1 copy number loss not provided [RCV001827677] Chr13:23553363..24970361 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12-12.13(chr13:23315046-25573967)x3 copy number gain not provided [RCV001834502] Chr13:23315046..25573967 [GRCh37]
Chr13:13q12.12-12.13		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q12.12(chr13:24222769-24492936) copy number loss not specified [RCV002053041] Chr13:24222769..24492936 [GRCh37]
Chr13:13q12.12		 uncertain significance
NC_000013.10:g.(?_24293859)_(26594123_?)del deletion not provided [RCV003119915] Chr13:24293859..26594123 [GRCh37]
Chr13:13q12.12-12.13		 pathogenic
GRCh37/hg19 13q12.12(chr13:23981973-24963501)x3 copy number gain See cases [RCV002287558] Chr13:23981973..24963501 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.791T>A (p.Val264Glu) single nucleotide variant Inborn genetic diseases [RCV003279772] Chr13:23891500 [GRCh38]
Chr13:24465639 [GRCh37]
Chr13:13q12.12		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001007537.3(C1QTNF9B):c.113G>T (p.Gly38Val) single nucleotide variant Inborn genetic diseases [RCV002774031] Chr13:23896874 [GRCh38]
Chr13:24471013 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.83C>G (p.Pro28Arg) single nucleotide variant Inborn genetic diseases [RCV002981717] Chr13:23896904 [GRCh38]
Chr13:24471043 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.169G>A (p.Glu57Lys) single nucleotide variant Inborn genetic diseases [RCV002799330] Chr13:23894199 [GRCh38]
Chr13:24468338 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.104G>A (p.Gly35Asp) single nucleotide variant Inborn genetic diseases [RCV002949967] Chr13:23896883 [GRCh38]
Chr13:24471022 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.143C>A (p.Ala48Glu) single nucleotide variant Inborn genetic diseases [RCV003001403] Chr13:23896844 [GRCh38]
Chr13:24470983 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.103G>A (p.Gly35Ser) single nucleotide variant Inborn genetic diseases [RCV002704059] Chr13:23896884 [GRCh38]
Chr13:24471023 [GRCh37]
Chr13:13q12.12		 likely benign
NM_001007537.3(C1QTNF9B):c.904T>G (p.Trp302Gly) single nucleotide variant Inborn genetic diseases [RCV002916013] Chr13:23891387 [GRCh38]
Chr13:24465526 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.158G>A (p.Gly53Asp) single nucleotide variant Inborn genetic diseases [RCV002678134] Chr13:23896829 [GRCh38]
Chr13:24470968 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.841G>A (p.Val281Met) single nucleotide variant Inborn genetic diseases [RCV002724941] Chr13:23891450 [GRCh38]
Chr13:24465589 [GRCh37]
Chr13:13q12.12		 likely benign
NM_001007537.3(C1QTNF9B):c.958G>A (p.Asp320Asn) single nucleotide variant Inborn genetic diseases [RCV003193600] Chr13:23891333 [GRCh38]
Chr13:24465472 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.941T>C (p.Leu314Ser) single nucleotide variant Inborn genetic diseases [RCV003205187] Chr13:23891350 [GRCh38]
Chr13:24465489 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.868A>G (p.Ser290Gly) single nucleotide variant Inborn genetic diseases [RCV003202675] Chr13:23891423 [GRCh38]
Chr13:24465562 [GRCh37]
Chr13:13q12.12		 likely benign
NM_001007537.3(C1QTNF9B):c.154A>C (p.Lys52Gln) single nucleotide variant Inborn genetic diseases [RCV003356840] Chr13:23896833 [GRCh38]
Chr13:24470972 [GRCh37]
Chr13:13q12.12		 uncertain significance
NM_001007537.3(C1QTNF9B):c.204G>T (p.Gly68=) single nucleotide variant not provided [RCV003398337] Chr13:23894164 [GRCh38]
Chr13:24468303 [GRCh37]
Chr13:13q12.12		 likely benign
GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3 copy number gain not specified [RCV003987034] Chr13:23329180..28663294 [GRCh37]
Chr13:13q12.12-12.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:615
Count of miRNA genes:309
Interacting mature miRNAs:328
Transcripts:ENST00000382057, ENST00000382137, ENST00000382140, ENST00000382145, ENST00000556521
Prediction methods: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
RH102138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371324,895,277 - 24,895,469UniSTSGRCh37
GRCh371324,465,865 - 24,466,057UniSTSGRCh37
Build 361323,363,865 - 23,364,057RGDNCBI36
Celera135,957,945 - 5,958,137UniSTS
Celera135,528,519 - 5,528,711RGD
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q12UniSTS
HuRef135,707,221 - 5,707,413UniSTS
HuRef135,276,956 - 5,277,148UniSTS
GeneMap99-GB4 RH Map1359.76UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 2 1 3 1 16 1 23 1 29 4 12
Low 265 112 639 134 192 7 1547 173 942 33 772 556 129 144 835
Below cutoff 2036 2042 881 329 702 296 2454 1798 2486 278 562 888 40 1012 1679 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000382137   ⟹   ENSP00000371572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1323,891,099 - 23,897,055 (-)Ensembl
RefSeq Acc Id: ENST00000382145   ⟹   ENSP00000371580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1323,891,099 - 23,897,502 (-)Ensembl
RefSeq Acc Id: ENST00000556521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1323,891,249 - 23,897,055 (-)Ensembl
RefSeq Acc Id: ENST00000713589   ⟹   ENSP00000518885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1323,891,099 - 23,897,502 (-)Ensembl
RefSeq Acc Id: NM_001007537   ⟹   NP_001007538
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,891,099 - 23,897,502 (-)NCBI
GRCh371324,465,238 - 24,471,145 (-)NCBI
Build 361323,363,428 - 23,369,125 (-)NCBI Archive
Celera135,528,082 - 5,533,781 (-)RGD
HuRef135,276,329 - 5,282,738 (-)NCBI
CHM1_11324,433,394 - 24,439,307 (-)NCBI
T2T-CHM13v2.01323,097,537 - 23,103,990 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104426
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,891,099 - 23,897,502 (-)NCBI
HuRef135,276,329 - 5,282,738 (-)NCBI
CHM1_11324,433,394 - 24,439,803 (-)NCBI
T2T-CHM13v2.01323,097,537 - 23,103,990 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430301   ⟹   XP_047286257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381323,891,099 - 23,897,006 (-)NCBI
RefSeq Acc Id: XM_054374517   ⟹   XP_054230492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01323,097,537 - 23,108,727 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001007538   ⟸   NM_001007537
- Peptide Label: precursor
- UniProtKB: B9EH31 (UniProtKB/Swiss-Prot),   B2RNN3 (UniProtKB/Swiss-Prot),   A0A3B0ISS0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000371572   ⟸   ENST00000382137
RefSeq Acc Id: ENSP00000371580   ⟸   ENST00000382145
RefSeq Acc Id: XP_047286257   ⟸   XM_047430301
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230492   ⟸   XM_054374517
- Peptide Label: isoform X2
- UniProtKB: A0A3B0ISS0 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000518885   ⟸   ENST00000713589
Protein Domains
C1q   Collagen-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-B2RNN3-F1-model_v2 AlphaFold B2RNN3 1-333 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34072 AgrOrtholog
COSMIC C1QTNF9B COSMIC
Ensembl Genes ENSG00000205863 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000382137.7 UniProtKB/Swiss-Prot
  ENST00000382145 ENTREZGENE
  ENST00000382145.5 UniProtKB/TrEMBL
  ENST00000713589 ENTREZGENE
Gene3D-CATH 2.60.120.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000205863 GTEx
HGNC ID HGNC:34072 ENTREZGENE
Human Proteome Map C1QTNF9B Human Proteome Map
InterPro C1q_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tumour_necrosis_fac-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:387911 UniProtKB/Swiss-Prot
NCBI Gene 387911 ENTREZGENE
OMIM 614148 OMIM
PANTHER COMPLEMENT C1Q AND TUMOR NECROSIS FACTOR-RELATED PROTEIN 9A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EMILIN ELASTIN MICROFIBRIL INTERFACE-LOCATED PROTEIN ELASTIN MICROFIBRIL INTERFACER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR37456:SF5 UniProtKB/TrEMBL
  SI:CH211-266K2.1 UniProtKB/TrEMBL
Pfam C1q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Collagen UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166049017 PharmGKB
PRINTS COMPLEMNTC1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART C1Q UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49842 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DFX8_HUMAN UniProtKB/TrEMBL
  A0A3B0ISS0 ENTREZGENE, UniProtKB/TrEMBL
  B2RNN3 ENTREZGENE
  B9EH31 ENTREZGENE
  C1T9B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A3T6 UniProtKB/Swiss-Prot
  B9EH31 UniProtKB/Swiss-Prot
  Q0VGC5 UniProtKB/Swiss-Prot
  Q5VX65 UniProtKB/Swiss-Prot
  Q5VX66 UniProtKB/Swiss-Prot
  Q8IUU4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-03-07 C1QTNF9B  C1q and TNF related 9B    C1q and tumor necrosis factor related protein 9B  Symbol and/or name change 5135510 APPROVED