![]() |

![]() |
Create Name: | |
Description: |
![]() |
Save what matters to you |
{{ loginError }} |
Sign in with your RGD account |
Create New Account | Recover Password |
Analyze GeneStrainQTL List |
![]() Gene Annotator (Functional Annotation) unavailable |
![]() Gene Annotator (Annotation Distribution) unavailable |
![]() Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable |
Gene Annotator (Functional Annotation) |
Gene Annotator (Annotation Distribution) |
Variant Visualizer (Genomic Variants) |
![]() InterViewer (Protein-Protein Interactions) unavailable |
![]() Gviewer (Genome Viewer) unavailable |
![]() Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable |
InterViewer (Protein-Protein Interactions) |
GViewer (Genome Viewer) |
Variant Visualizer (Damaging Variants) |
![]() Gene Annotator (Annotation Comparison) unavailable |
![]() OLGA (Gene List Generator) unavailable |
![]() |
Gene Annotator (Annotation Comparison) |
OLGA (Gene List Generator) |
Excel (Download) |
![]() MOET (Multi-Ontology Enrichement) unavailable |
![]() GOLF (Gene-Ortholog Location Finder) unavailable |
|
MOET (Multi-Ontology Enrichement) |
GOLF (Gene-Ortholog Location Finder) |
![]() Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | bisphenol A | decreases expression | EXP | | 6480464 | bisphenol A results in decreased expression of C1QTNF9B mRNA | CTD | PMID:29275510 | |
|
|
|
|
|
C1QTNF9B (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
LOC609026 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
LOC100522569 (Sus scrofa - pig) |
|
RH102138 |
|
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. |
RefSeq Transcripts | NM_001007537 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NR_104426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AL445985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AX525130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC110413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC137004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC137006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC144450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001007537 ⟹ NP_001007538 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||||||||
Sequence: |
TTCAGTCTGTCATCTGAACCATGAGGATCTGGTGGCTTCTGCTTGCCATTGAAATCTGCACAGGhide sequence |
RefSeq Acc Id: | NR_104426 | |||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||
Type: | NON-CODING | |||||||||||||||||||
Position: |
|
|||||||||||||||||||
Sequence: |
CAACTACGAACATGGACATCTGTTCTAGTCCTTGCTTTCAATTATTTTGTGTAGATGCACAGCAhide sequence |
Protein RefSeqs | NP_001007538 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAI10414 | (Get FASTA) | NCBI Sequence Viewer |
AAI37005 | (Get FASTA) | NCBI Sequence Viewer | |
AAI37007 | (Get FASTA) | NCBI Sequence Viewer | |
B2RNN3 | (Get FASTA) | NCBI Sequence Viewer | |
CAD57043 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001007538 ⟸ NM_001007537 |
- Peptide Label: | precursor |
- UniProtKB: | B2RNN3 (UniProtKB/Swiss-Prot) |
- Sequence: |
MRIWWLLLAIEICTGNINSQDTCRQGHPGIPGNPGHNGLPGRDGRDGAKGDKGDAGEPGCPGSPhide sequence |
Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 13q12.12(chr13:23518725-24153706)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050920]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050920]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051233]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051233]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051234]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051234]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051307]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051307]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051308]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051308]|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 | Autism [RCV000051309]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053726]|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 | Bilateral cleft palate [RCV000053729]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053731]|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 | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053719]|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 | Intellectual functioning disability [RCV000053721]|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 | Premature Birth [RCV000053723]|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 | PARP 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 |
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 |
Single allele | 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 |
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 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 |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:34072 | AgrOrtholog |
COSMIC | C1QTNF9B | COSMIC |
Ensembl Genes | ENSG00000205863 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000371572 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000371575 | UniProtKB/Swiss-Prot | |
ENSP00000371580 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000382137 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000382140 | UniProtKB/Swiss-Prot | |
ENST00000382145 | ENTREZGENE, UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.120.40 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000205863 | GTEx |
HGNC ID | HGNC:34072 | ENTREZGENE |
Human Proteome Map | C1QTNF9B | Human Proteome Map |
InterPro | C1q_dom | UniProtKB/Swiss-Prot |
Collagen | UniProtKB/Swiss-Prot | |
Tumour_necrosis_fac-like_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:387911 | UniProtKB/Swiss-Prot |
NCBI Gene | 387911 | ENTREZGENE |
OMIM | 614148 | OMIM |
Pfam | C1q | UniProtKB/Swiss-Prot |
Collagen | UniProtKB/Swiss-Prot | |
PharmGKB | PA166049017 | PharmGKB |
PRINTS | COMPLEMNTC1Q | UniProtKB/Swiss-Prot |
PROSITE | C1Q | UniProtKB/Swiss-Prot |
SMART | C1Q | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF49842 | UniProtKB/Swiss-Prot |
UniGene | Hs.740810 | ENTREZGENE |
UniProt | A0A0C4DFX8_HUMAN | UniProtKB/TrEMBL |
B2RNN3 | ENTREZGENE, 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 |
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 |
![]() |
More on C1QTNF9B | |
![]() |
Alliance Gene |
![]() |
NCBI Gene |
![]() |
Ensembl Gene |
![]() |
JBrowse: hg19 hg38 |
![]() |
HGNC Report |
![]() |
NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 1605504 |
Created: | 2007-04-28 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
![]() |
![]() |
![]() |
![]() |
RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.