CAB39L (calcium binding protein 39 like) - Rat Genome Database

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Gene: CAB39L (calcium binding protein 39 like) Homo sapiens
Analyze
Symbol: CAB39L
Name: calcium binding protein 39 like
RGD ID: 1319011
HGNC Page HGNC:20290
Description: Predicted to enable protein serine/threonine kinase activator activity. Predicted to be involved in intracellular signal transduction. Predicted to be located in cytoplasm and serine/threonine protein kinase complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: antigen MLAA-34; bA103J18.3; calcium binding protein 39-like; calcium-binding protein 39-like; FLJ12577; MLAA-34; MO25-BETA; mo25-like protein; MO25beta; MO2L; RP11-103J18.3; sarcoma antigen NY-SAR-79; U937-associated antigen
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
GRCh381349,308,650 - 49,444,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1349,308,650 - 49,444,064 (-)EnsemblGRCh38hg38GRCh38
GRCh371349,882,786 - 50,018,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361348,780,787 - 48,916,222 (-)NCBINCBI36Build 36hg18NCBI36
Build 341348,781,944 - 48,855,029NCBI
Celera1330,938,637 - 31,073,173 (-)NCBICelera
Cytogenetic Map13q14.2NCBI
HuRef1330,676,584 - 30,811,804 (-)NCBIHuRef
CHM1_11349,850,328 - 49,985,647 (-)NCBICHM1_1
T2T-CHM13v2.01348,529,853 - 48,662,696 (-)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

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:12477932   PMID:12601173   PMID:14702039   PMID:15057823   PMID:15489334   PMID:16054041   PMID:16344560   PMID:17353931   PMID:18592235   PMID:20379614   PMID:20562859  
PMID:20706999   PMID:21240483   PMID:21873635   PMID:23135622   PMID:23376485   PMID:24981860   PMID:25416956   PMID:26186194   PMID:26306467   PMID:26344197   PMID:28514442   PMID:28611215  
PMID:29059232   PMID:30054562   PMID:31204911   PMID:31718329   PMID:32296183   PMID:32814053   PMID:33596023   PMID:33961781   PMID:35156780   PMID:37109674  


Genomics

Comparative Map Data
CAB39L
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381349,308,650 - 49,444,064 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1349,308,650 - 49,444,064 (-)EnsemblGRCh38hg38GRCh38
GRCh371349,882,786 - 50,018,200 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361348,780,787 - 48,916,222 (-)NCBINCBI36Build 36hg18NCBI36
Build 341348,781,944 - 48,855,029NCBI
Celera1330,938,637 - 31,073,173 (-)NCBICelera
Cytogenetic Map13q14.2NCBI
HuRef1330,676,584 - 30,811,804 (-)NCBIHuRef
CHM1_11349,850,328 - 49,985,647 (-)NCBICHM1_1
T2T-CHM13v2.01348,529,853 - 48,662,696 (-)NCBIT2T-CHM13v2.0
Cab39l
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391459,678,400 - 59,786,353 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1459,678,421 - 59,823,213 (+)EnsemblGRCm39 Ensembl
GRCm381459,440,934 - 59,548,904 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1459,440,972 - 59,585,764 (+)EnsemblGRCm38mm10GRCm38
MGSCv371460,059,818 - 60,167,740 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361458,395,091 - 58,503,013 (+)NCBIMGSCv36mm8
Celera1457,241,282 - 57,350,443 (+)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1431.48NCBI
Cab39l
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81537,782,778 - 37,885,191 (+)NCBIGRCr8
mRatBN7.21533,606,588 - 33,710,518 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1533,606,694 - 33,743,545 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1535,483,282 - 35,571,440 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01536,633,958 - 36,722,120 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01535,081,902 - 35,170,109 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01539,745,124 - 39,849,022 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1539,759,257 - 39,870,208 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01543,566,520 - 43,670,759 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41538,552,234 - 38,640,594 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11538,567,933 - 38,656,288 (+)NCBI
Celera1533,327,289 - 33,415,479 (+)NCBICelera
Cytogenetic Map15p12NCBI
Cab39l
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554312,780,839 - 2,889,769 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554312,781,714 - 2,899,857 (-)NCBIChiLan1.0ChiLan1.0
CAB39L
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21450,746,287 - 50,884,238 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11349,397,524 - 49,535,900 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01330,446,643 - 30,584,608 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11349,198,143 - 49,335,634 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1349,198,143 - 49,288,816 (-)Ensemblpanpan1.1panPan2
CAB39L
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1222,319,239 - 2,426,554 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl222,354,884 - 2,460,857 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha222,348,042 - 2,455,899 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0222,310,568 - 2,418,253 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl222,346,006 - 2,446,273 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1222,218,630 - 2,326,513 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0222,268,028 - 2,375,638 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0222,286,336 - 2,394,265 (+)NCBIUU_Cfam_GSD_1.0
Cab39l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945158,931,175 - 159,004,614 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365652,417,309 - 2,472,189 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365652,415,225 - 2,536,311 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CAB39L
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1118,313,796 - 18,401,235 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11118,297,669 - 18,400,398 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21118,612,809 - 18,715,208 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CAB39L
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1327,226,012 - 27,314,413 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl327,225,946 - 27,314,318 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605716,526,353 - 16,661,366 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cab39l
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247485,252,994 - 5,411,002 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247485,238,235 - 5,408,654 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CAB39L
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33		 pathogenic
GRCh38/hg38 13q14.11-14.2(chr13:43505396-49983668)x1 copy number loss See cases [RCV000051378] Chr13:43505396..49983668 [GRCh38]
Chr13:44079532..50557804 [GRCh37]
Chr13:42977532..49455805 [NCBI36]
Chr13:13q14.11-14.2		 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 13q12.11-34(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 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 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 13q11-34(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 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31		 pathogenic
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 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32		 pathogenic
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 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q14.2-14.3(chr13:48307302-50927473)x1 copy number loss See cases [RCV000136624] Chr13:48307302..50927473 [GRCh38]
Chr13:48881438..51501609 [GRCh37]
Chr13:47779439..50399610 [NCBI36]
Chr13:13q14.2-14.3		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
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 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32		 pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3		 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 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 13q14.2(chr13:48591738-50064488)x3 copy number gain See cases [RCV000143577] Chr13:48591738..50064488 [GRCh38]
Chr13:49165874..50638624 [GRCh37]
Chr13:48063875..49536625 [NCBI36]
Chr13:13q14.2		 uncertain significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
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
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
GRCh37/hg19 13q14.2(chr13:49805984-50472203)x3 copy number gain See cases [RCV000446394] Chr13:49805984..50472203 [GRCh37]
Chr13:13q14.2		 likely pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2(chr13:49726336-50158142)x1 copy number loss See cases [RCV000448039] Chr13:49726336..50158142 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:47312129-51342279)x1 copy number loss See cases [RCV000511479] Chr13:47312129..51342279 [GRCh37]
Chr13:13q14.2-14.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001079670.3(CAB39L):c.364C>G (p.His122Asp) single nucleotide variant Inborn genetic diseases [RCV003304873] Chr13:49359745 [GRCh38]
Chr13:49933881 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q14.2(chr13:49638092-50045664)x3 copy number gain not provided [RCV000683525] Chr13:49638092..50045664 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q14.2(chr13:49888597-50237499)x3 copy number gain not provided [RCV000683520] Chr13:49888597..50237499 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q14.2(chr13:48292731-50577868)x3 copy number gain not provided [RCV000683557] Chr13:48292731..50577868 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1		 pathogenic
Single allele deletion Intellectual disability [RCV000684766] Chr13:48225451..58070399 [GRCh37]
Chr13:13q14.2-21.1		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1 copy number loss not provided [RCV000846575] Chr13:49586017..61311845 [GRCh37]
Chr13:13q14.2-21.2		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.12-14.3(chr13:45487628-52639336)x3 copy number gain not provided [RCV001258545] Chr13:45487628..52639336 [GRCh37]
Chr13:13q14.12-14.3		 likely pathogenic
GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1 copy number loss not provided [RCV001795546] Chr13:45819046..63910212 [GRCh37]
Chr13:13q14.13-21.31		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q14.2(chr13:49947433-50049040) copy number loss not specified [RCV002053060] Chr13:49947433..50049040 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137) copy number loss not specified [RCV002053058] Chr13:44573371..53324137 [GRCh37]
Chr13:13q14.11-14.3		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217) copy number loss not specified [RCV002053048] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.2(chr13:49888733-50238594)x3 copy number gain not provided [RCV002474947] Chr13:49888733..50238594 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.955G>A (p.Ala319Thr) single nucleotide variant Inborn genetic diseases [RCV002688590] Chr13:49310873 [GRCh38]
Chr13:49885009 [GRCh37]
Chr13:13q14.2		 likely benign
NM_001079670.3(CAB39L):c.232C>G (p.Leu78Val) single nucleotide variant Inborn genetic diseases [RCV002997452] Chr13:49377011 [GRCh38]
Chr13:49951147 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.233T>G (p.Leu78Arg) single nucleotide variant Inborn genetic diseases [RCV002997453] Chr13:49377010 [GRCh38]
Chr13:49951146 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.338G>T (p.Ser113Ile) single nucleotide variant Inborn genetic diseases [RCV002972774] Chr13:49359771 [GRCh38]
Chr13:49933907 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.927A>C (p.Gln309His) single nucleotide variant Inborn genetic diseases [RCV002952053] Chr13:49310901 [GRCh38]
Chr13:49885037 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.79A>G (p.Ile27Val) single nucleotide variant Inborn genetic diseases [RCV002869077] Chr13:49382832 [GRCh38]
Chr13:49956968 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.125T>C (p.Val42Ala) single nucleotide variant Inborn genetic diseases [RCV002955868] Chr13:49377118 [GRCh38]
Chr13:49951254 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.422G>A (p.Arg141His) single nucleotide variant Inborn genetic diseases [RCV002698034] Chr13:49350886 [GRCh38]
Chr13:49925022 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.730A>G (p.Ile244Val) single nucleotide variant Inborn genetic diseases [RCV002789903] Chr13:49332051 [GRCh38]
Chr13:49906187 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.905T>C (p.Ile302Thr) single nucleotide variant Inborn genetic diseases [RCV002941727] Chr13:49310923 [GRCh38]
Chr13:49885059 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.260A>G (p.Gln87Arg) single nucleotide variant Inborn genetic diseases [RCV002703532] Chr13:49376983 [GRCh38]
Chr13:49951119 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.31C>A (p.His11Asn) single nucleotide variant Inborn genetic diseases [RCV002921718] Chr13:49382880 [GRCh38]
Chr13:49957016 [GRCh37]
Chr13:13q14.2		 uncertain significance
NM_001079670.3(CAB39L):c.772A>T (p.Met258Leu) single nucleotide variant Inborn genetic diseases [RCV002897261] Chr13:49332009 [GRCh38]
Chr13:49906145 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1 copy number loss not specified [RCV003987012] Chr13:44076923..60520078 [GRCh37]
Chr13:13q14.11-21.2		 pathogenic
GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3 copy number gain not specified [RCV003987040] Chr13:35015723..59553519 [GRCh37]
Chr13:13q13.2-21.1		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1 copy number loss not provided [RCV003885457] Chr13:34884647..61309742 [GRCh37]
Chr13:13q13.2-21.2		 pathogenic
NM_001079670.3(CAB39L):c.155T>G (p.Ile52Ser) single nucleotide variant Inborn genetic diseases [RCV003379563] Chr13:49377088 [GRCh38]
Chr13:49951224 [GRCh37]
Chr13:13q14.2		 uncertain significance
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
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 13q14.2-21.31(chr13:47765202-62058520)x1 copy number loss See cases [RCV000142223] Chr13:47765202..62058520 [GRCh38]
Chr13:48339337..62632653 [GRCh37]
Chr13:47237338..61530654 [NCBI36]
Chr13:13q14.2-21.31		 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 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31		 pathogenic
GRCh37/hg19 13q14.2-14.3(chr13:48906943-52778614)x1 copy number loss See cases [RCV000448535] Chr13:48906943..52778614 [GRCh37]
Chr13:13q14.2-14.3		 pathogenic
GRCh37/hg19 13q14.2(chr13:49982096-49989938)x1 copy number loss not provided [RCV000738191] Chr13:49982096..49989938 [GRCh37]
Chr13:13q14.2		 benign
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 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 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3671
Count of miRNA genes:903
Interacting mature miRNAs:1072
Transcripts:ENST00000347776, ENST00000355854, ENST00000409082, ENST00000409130, ENST00000409308, ENST00000410043, ENST00000413278, ENST00000425242, ENST00000457041, ENST00000470410, ENST00000476943
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.

Markers in Region
D13S165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,925,374 - 49,925,557UniSTSGRCh37
GRCh371349,925,359 - 49,925,543UniSTSGRCh37
Build 361348,823,375 - 48,823,558RGDNCBI36
Celera1330,981,117 - 30,981,305UniSTS
Celera1330,981,132 - 30,981,319RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,719,089 - 30,719,276UniSTS
HuRef1330,719,074 - 30,719,262UniSTS
Marshfield Genetic Map1345.55RGD
Marshfield Genetic Map1345.55UniSTS
Genethon Genetic Map1347.6UniSTS
TNG Radiation Hybrid Map1314827.0UniSTS
deCODE Assembly Map1352.38UniSTS
Stanford-G3 RH Map131304.0UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13454.1UniSTS
GeneMap99-G3 RH Map131300.0UniSTS
D13S1678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,911,324 - 49,911,472UniSTSGRCh37
Build 361348,809,325 - 48,809,473RGDNCBI36
Celera1330,967,087 - 30,967,235RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,705,019 - 30,705,167UniSTS
GeneMap99-G3 RH Map131300.0UniSTS
RH91905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,884,018 - 49,884,177UniSTSGRCh37
Build 361348,782,019 - 48,782,178RGDNCBI36
Celera1330,939,869 - 30,940,028RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,677,816 - 30,677,975UniSTS
GeneMap99-GB4 RH Map13148.39UniSTS
RH103315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,884,850 - 49,884,976UniSTSGRCh37
Build 361348,782,851 - 48,782,977RGDNCBI36
Celera1330,940,701 - 30,940,827RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,678,648 - 30,678,774UniSTS
GeneMap99-GB4 RH Map13149.17UniSTS
SHGC-145628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,950,147 - 49,950,448UniSTSGRCh37
Build 361348,848,148 - 48,848,449RGDNCBI36
Celera1331,005,905 - 31,006,206RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,743,867 - 30,744,168UniSTS
TNG Radiation Hybrid Map1314782.0UniSTS
CAB39L__4492  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,883,951 - 49,884,769UniSTSGRCh37
Build 361348,781,952 - 48,782,770RGDNCBI36
Celera1330,939,802 - 30,940,620RGD
HuRef1330,677,749 - 30,678,567UniSTS
D13S1185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,976,056 - 49,976,182UniSTSGRCh37
Build 361348,874,057 - 48,874,183RGDNCBI36
Celera1331,030,999 - 31,031,125RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,769,630 - 30,769,756UniSTS
Whitehead-YAC Contig Map13 UniSTS
G17736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,937,772 - 49,937,874UniSTSGRCh37
Build 361348,835,773 - 48,835,875RGDNCBI36
Celera1330,993,533 - 30,993,635RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,731,493 - 30,731,595UniSTS
STS-N23383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371349,882,893 - 49,883,020UniSTSGRCh37
Build 361348,780,894 - 48,781,021RGDNCBI36
Celera1330,938,744 - 30,938,871RGD
Cytogenetic Map13q14.2UniSTS
HuRef1330,676,691 - 30,676,818UniSTS
GeneMap99-GB4 RH Map13149.17UniSTS
D13S165  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map13q14.2UniSTS
TNG Radiation Hybrid Map1314827.0UniSTS
Stanford-G3 RH Map131304.0UniSTS
NCBI RH Map13454.1UniSTS
GeneMap99-G3 RH Map131300.0UniSTS


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 1929 1656 842 122 141 10 3110 959 2934 153 1221 1019 115 976 1928 3
Low 508 1199 882 500 1668 454 1245 1233 796 266 238 591 60 1 228 859 2 1
Below cutoff 1 135 2 2 139 1 1 1 2 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001079670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001287339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054375061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA278473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL138875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW134845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX105381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY211923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY288977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA450475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA146462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB033467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB051338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB279812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB457246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY043965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000347776   ⟹   ENSP00000261669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,308,655 - 49,413,751 (-)Ensembl
RefSeq Acc Id: ENST00000355854   ⟹   ENSP00000348113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,308,650 - 49,401,599 (-)Ensembl
RefSeq Acc Id: ENST00000409082   ⟹   ENSP00000386979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,376,963 - 49,413,751 (-)Ensembl
RefSeq Acc Id: ENST00000409130   ⟹   ENSP00000387245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,310,129 - 49,351,127 (-)Ensembl
RefSeq Acc Id: ENST00000409308   ⟹   ENSP00000386375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,308,650 - 49,444,064 (-)Ensembl
RefSeq Acc Id: ENST00000410043   ⟹   ENSP00000386328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,310,652 - 49,444,053 (-)Ensembl
RefSeq Acc Id: ENST00000413278   ⟹   ENSP00000404028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,359,724 - 49,420,475 (-)Ensembl
RefSeq Acc Id: ENST00000425242   ⟹   ENSP00000416719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,310,622 - 49,377,131 (-)Ensembl
RefSeq Acc Id: ENST00000457041   ⟹   ENSP00000409253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,350,743 - 49,401,525 (-)Ensembl
RefSeq Acc Id: ENST00000470410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,401,496 - 49,444,064 (-)Ensembl
RefSeq Acc Id: ENST00000476943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,382,507 - 49,413,040 (-)Ensembl
RefSeq Acc Id: ENST00000610540   ⟹   ENSP00000479669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1349,308,655 - 49,413,751 (-)Ensembl
RefSeq Acc Id: NM_001079670   ⟹   NP_001073138
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
GRCh371349,882,786 - 50,018,221 (-)RGD
GRCh371349,882,786 - 50,018,221 (-)NCBI
Build 361348,780,787 - 48,916,222 (-)NCBI Archive
Celera1330,938,637 - 31,073,173 (-)RGD
HuRef1330,676,584 - 30,811,845 (-)NCBI
CHM1_11349,850,328 - 49,985,688 (-)NCBI
T2T-CHM13v2.01348,529,853 - 48,662,696 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287337   ⟹   NP_001274266
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
HuRef1330,676,584 - 30,811,845 (-)NCBI
CHM1_11349,850,328 - 49,985,688 (-)NCBI
T2T-CHM13v2.01348,529,853 - 48,662,696 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287338   ⟹   NP_001274267
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,413,751 (-)NCBI
HuRef1330,676,584 - 30,811,845 (-)NCBI
CHM1_11349,850,328 - 49,955,318 (-)NCBI
T2T-CHM13v2.01348,529,853 - 48,632,384 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001287339   ⟹   NP_001274268
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,413,751 (-)NCBI
HuRef1330,676,584 - 30,811,845 (-)NCBI
CHM1_11349,850,328 - 49,955,318 (-)NCBI
T2T-CHM13v2.01348,529,853 - 48,632,384 (-)NCBI
Sequence:
RefSeq Acc Id: NM_030925   ⟹   NP_112187
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,401,542 (-)NCBI
GRCh371349,882,786 - 50,018,221 (-)RGD
Build 361348,780,787 - 48,873,736 (-)NCBI Archive
Celera1330,938,637 - 31,073,173 (-)RGD
HuRef1330,676,584 - 30,811,845 (-)NCBI
CHM1_11349,850,328 - 49,943,103 (-)NCBI
T2T-CHM13v2.01348,529,853 - 48,620,181 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430693   ⟹   XP_047286649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
RefSeq Acc Id: XM_047430694   ⟹   XP_047286650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
RefSeq Acc Id: XM_047430695   ⟹   XP_047286651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
RefSeq Acc Id: XM_047430696   ⟹   XP_047286652
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
RefSeq Acc Id: XM_047430697   ⟹   XP_047286653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
RefSeq Acc Id: XM_047430698   ⟹   XP_047286654
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
RefSeq Acc Id: XM_047430699   ⟹   XP_047286655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,308,650 - 49,444,064 (-)NCBI
RefSeq Acc Id: XM_054375058   ⟹   XP_054231033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01348,529,853 - 48,652,807 (-)NCBI
RefSeq Acc Id: XM_054375059   ⟹   XP_054231034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01348,529,853 - 48,652,808 (-)NCBI
RefSeq Acc Id: XM_054375060   ⟹   XP_054231035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01348,529,853 - 48,620,213 (-)NCBI
RefSeq Acc Id: XM_054375061   ⟹   XP_054231036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01348,529,853 - 48,652,810 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001073138 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274267 (Get FASTA)   NCBI Sequence Viewer  
  NP_001274268 (Get FASTA)   NCBI Sequence Viewer  
  NP_112187 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286649 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286650 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286651 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286652 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286653 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286654 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286655 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231033 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231036 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10993 (Get FASTA)   NCBI Sequence Viewer  
  AAO65176 (Get FASTA)   NCBI Sequence Viewer  
  AAQ93064 (Get FASTA)   NCBI Sequence Viewer  
  BAB14147 (Get FASTA)   NCBI Sequence Viewer  
  CAC37735 (Get FASTA)   NCBI Sequence Viewer  
  EAX08820 (Get FASTA)   NCBI Sequence Viewer  
  EAX08821 (Get FASTA)   NCBI Sequence Viewer  
  EAX08822 (Get FASTA)   NCBI Sequence Viewer  
  EAX08823 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261669
  ENSP00000261669.7
  ENSP00000348113
  ENSP00000348113.4
  ENSP00000386328
  ENSP00000386328.1
  ENSP00000386375
  ENSP00000386375.1
  ENSP00000386979.1
  ENSP00000387245.1
  ENSP00000404028.1
  ENSP00000409253.1
  ENSP00000416719.1
  ENSP00000479669
  ENSP00000479669.1
GenBank Protein Q9H9S4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001073138   ⟸   NM_001079670
- UniProtKB: Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q9H9S4 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_112187   ⟸   NM_030925
- UniProtKB: Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q9H9S4 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274266   ⟸   NM_001287337
- UniProtKB: Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q9H9S4 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274268   ⟸   NM_001287339
- UniProtKB: Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q9H9S4 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001274267   ⟸   NM_001287338
- UniProtKB: Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q9H9S4 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000386328   ⟸   ENST00000410043
RefSeq Acc Id: ENSP00000416719   ⟸   ENST00000425242
RefSeq Acc Id: ENSP00000261669   ⟸   ENST00000347776
RefSeq Acc Id: ENSP00000404028   ⟸   ENST00000413278
RefSeq Acc Id: ENSP00000479669   ⟸   ENST00000610540
RefSeq Acc Id: ENSP00000409253   ⟸   ENST00000457041
RefSeq Acc Id: ENSP00000348113   ⟸   ENST00000355854
RefSeq Acc Id: ENSP00000386979   ⟸   ENST00000409082
RefSeq Acc Id: ENSP00000386375   ⟸   ENST00000409308
RefSeq Acc Id: ENSP00000387245   ⟸   ENST00000409130
RefSeq Acc Id: XP_047286654   ⟸   XM_047430698
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286652   ⟸   XM_047430696
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286653   ⟸   XM_047430697
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286651   ⟸   XM_047430695
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286650   ⟸   XM_047430694
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286655   ⟸   XM_047430699
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286649   ⟸   XM_047430693
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231036   ⟸   XM_054375061
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231034   ⟸   XM_054375059
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231033   ⟸   XM_054375058
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054231035   ⟸   XM_054375060
- Peptide Label: isoform X1
- UniProtKB: Q9H9S4 (UniProtKB/Swiss-Prot),   Q96FG1 (UniProtKB/Swiss-Prot),   Q6WG71 (UniProtKB/Swiss-Prot),   Q5TAW6 (UniProtKB/Swiss-Prot),   Q9BZ33 (UniProtKB/Swiss-Prot),   Q5TAW7 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9H9S4-F1-model_v2 AlphaFold Q9H9S4 1-337 view protein structure

Promoters
RGD ID:6790743
Promoter ID:HG_KWN:17850
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000378341,   NM_030925,   OTTHUMT00000335461
Position:
Human AssemblyChrPosition (strand)Source
Build 361348,873,346 - 48,873,846 (-)MPROMDB
RGD ID:6790771
Promoter ID:HG_KWN:17854
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:ENST00000354234,   ENST00000409308,   NM_031915,   OTTHUMT00000044926,   OTTHUMT00000335458,   UC001VCY.2,   UC010ADF.1,   UC010ADG.1,   UC010ADH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361348,915,796 - 48,917,337 (+)MPROMDB
RGD ID:7226429
Promoter ID:EPDNEW_H18961
Type:initiation region
Name:CAB39L_2
Description:calcium binding protein 39 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18962  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,401,542 - 49,401,602EPDNEW
RGD ID:7226433
Promoter ID:EPDNEW_H18962
Type:initiation region
Name:CAB39L_1
Description:calcium binding protein 39 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18961  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381349,444,064 - 49,444,124EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20290 AgrOrtholog
COSMIC CAB39L COSMIC
Ensembl Genes ENSG00000102547 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000347776 ENTREZGENE
  ENST00000347776.9 UniProtKB/Swiss-Prot
  ENST00000355854 ENTREZGENE
  ENST00000355854.8 UniProtKB/Swiss-Prot
  ENST00000409082.5 UniProtKB/TrEMBL
  ENST00000409130.5 UniProtKB/TrEMBL
  ENST00000409308 ENTREZGENE
  ENST00000409308.6 UniProtKB/Swiss-Prot
  ENST00000410043 ENTREZGENE
  ENST00000410043.5 UniProtKB/Swiss-Prot
  ENST00000413278.5 UniProtKB/TrEMBL
  ENST00000425242.5 UniProtKB/TrEMBL
  ENST00000457041.5 UniProtKB/TrEMBL
  ENST00000610540 ENTREZGENE
  ENST00000610540.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102547 GTEx
HGNC ID HGNC:20290 ENTREZGENE
Human Proteome Map CAB39L Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mo25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:81617 UniProtKB/Swiss-Prot
NCBI Gene 81617 ENTREZGENE
OMIM 612175 OMIM
PANTHER CALCIUM-BINDING PROTEIN 39-LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10182 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Mo25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134913801 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZBJ4_HUMAN UniProtKB/TrEMBL
  B7ZBJ5_HUMAN UniProtKB/TrEMBL
  B7ZBJ6_HUMAN UniProtKB/TrEMBL
  B7ZBJ7_HUMAN UniProtKB/TrEMBL
  CB39L_HUMAN UniProtKB/Swiss-Prot
  Q5TAW6 ENTREZGENE
  Q5TAW7 ENTREZGENE, UniProtKB/TrEMBL
  Q6WG71 ENTREZGENE
  Q86WE6_HUMAN UniProtKB/TrEMBL
  Q96FG1 ENTREZGENE
  Q9BZ33 ENTREZGENE
  Q9H9S4 ENTREZGENE
UniProt Secondary Q5TAW6 UniProtKB/Swiss-Prot
  Q6WG71 UniProtKB/Swiss-Prot
  Q96FG1 UniProtKB/Swiss-Prot
  Q9BZ33 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 CAB39L  calcium binding protein 39 like    calcium binding protein 39-like  Symbol and/or name change 5135510 APPROVED