SEC14L5 (SEC14 like lipid binding 5) - Rat Genome Database

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Gene: SEC14L5 (SEC14 like lipid binding 5) Homo sapiens
Analyze
Symbol: SEC14L5
Name: SEC14 like lipid binding 5
RGD ID: 1605420
HGNC Page HGNC:29032
Description: Predicted to enable phosphatidic acid transfer activity. Predicted to be located in mitochondrial intermembrane space. Predicted to be active in cytoplasm; INTERACTS WITH aflatoxin B1; antirheumatic drug; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: KIAA0420; PRELID4B; SEC14-like 5; SEC14-like lipid binding 5; SEC14-like protein 5
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
GRCh38164,958,330 - 5,019,157 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,958,330 - 5,019,157 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,008,331 - 5,069,158 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,948,319 - 5,009,157 (+)NCBINCBI36Build 36hg18NCBI36
Celera165,217,701 - 5,278,537 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,974,393 - 5,035,212 (+)NCBIHuRef
CHM1_1165,009,162 - 5,070,362 (+)NCBICHM1_1
T2T-CHM13v2.0164,987,819 - 5,048,658 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9455477   PMID:17428729   PMID:21873635   PMID:23319000   PMID:27926873   PMID:27997584   PMID:32296183   PMID:32807901  


Genomics

Comparative Map Data
SEC14L5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,958,330 - 5,019,157 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,958,330 - 5,019,157 (+)EnsemblGRCh38hg38GRCh38
GRCh37165,008,331 - 5,069,158 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36164,948,319 - 5,009,157 (+)NCBINCBI36Build 36hg18NCBI36
Celera165,217,701 - 5,278,537 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef164,974,393 - 5,035,212 (+)NCBIHuRef
CHM1_1165,009,162 - 5,070,362 (+)NCBICHM1_1
T2T-CHM13v2.0164,987,819 - 5,048,658 (+)NCBIT2T-CHM13v2.0
Sec14l5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,964,758 - 5,005,135 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,964,973 - 5,005,135 (+)EnsemblGRCm39 Ensembl
GRCm38165,146,906 - 5,187,271 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl165,147,109 - 5,187,271 (+)EnsemblGRCm38mm10GRCm38
MGSCv37165,147,202 - 5,184,027 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36165,062,275 - 5,099,506 (+)NCBIMGSCv36mm8
Celera165,778,601 - 5,816,955 (+)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.5NCBI
Sec14l5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81010,901,430 - 10,942,548 (-)NCBIGRCr8
mRatBN7.21010,394,963 - 10,436,076 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1010,396,878 - 10,435,917 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,104,719 - 15,142,916 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01014,593,556 - 14,631,740 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01010,262,617 - 10,300,837 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01010,588,955 - 10,629,942 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1010,591,251 - 10,629,735 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0109,358,445 - 9,397,203 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41010,512,385 - 10,551,084 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera109,363,779 - 9,400,784 (-)NCBICelera
Cytogenetic Map10q12NCBI
Sec14l5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544212,528,767 - 12,566,608 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544212,527,999 - 12,567,626 (-)NCBIChiLan1.0ChiLan1.0
SEC14L5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2185,486,482 - 5,546,429 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1169,276,694 - 9,336,766 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0163,882,457 - 3,940,294 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1165,032,085 - 5,106,016 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl165,047,682 - 5,102,546 (+)Ensemblpanpan1.1panPan2
SEC14L5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1636,438,098 - 36,479,887 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl636,442,145 - 36,479,935 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha637,829,702 - 37,871,490 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0636,640,338 - 36,682,129 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl636,640,348 - 36,682,098 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1636,436,713 - 36,478,581 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0636,327,905 - 36,369,960 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0636,730,331 - 36,772,352 (-)NCBIUU_Cfam_GSD_1.0
Sec14l5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344107,034,285 - 107,070,485 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365304,880,727 - 4,913,792 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365304,879,822 - 4,915,926 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SEC14L5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl337,397,120 - 37,443,234 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1337,397,110 - 37,443,128 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2338,405,671 - 38,448,991 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SEC14L5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.154,630,256 - 4,686,271 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl54,658,703 - 4,690,016 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606825,965,021 - 26,025,610 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sec14l5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248242,783,262 - 2,820,970 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248242,781,997 - 2,824,665 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SEC14L5
47 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
NM_014692.1(SEC14L5):c.1801-952G>T single nucleotide variant Lung cancer [RCV000099966] Chr16:5010143 [GRCh38]
Chr16:5060144 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:4926922-5824683)x3 copy number gain See cases [RCV000135677] Chr16:4926922..5824683 [GRCh38]
Chr16:4976923..5874684 [GRCh37]
Chr16:4916924..5814685 [NCBI36]
Chr16:16p13.3		 likely benign
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:5042610-6387873)x3 copy number gain See cases [RCV000446875] Chr16:5042610..6387873 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:4541805-5813911)x3 copy number gain See cases [RCV000448804] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_014692.2(SEC14L5):c.658A>G (p.Ser220Gly) single nucleotide variant Inborn genetic diseases [RCV003273098] Chr16:4992021 [GRCh38]
Chr16:5042022 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:5023441-5080086)x1 copy number loss not provided [RCV001006749] Chr16:5023441..5080086 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
NM_014692.2(SEC14L5):c.1120C>A (p.Arg374Ser) single nucleotide variant Inborn genetic diseases [RCV003275335] Chr16:5000915 [GRCh38]
Chr16:5050916 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4971767-5023403)x1 copy number loss not provided [RCV001834505] Chr16:4971767..5023403 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:4541805-5813911) copy number gain not specified [RCV002052503] Chr16:4541805..5813911 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_014692.2(SEC14L5):c.469A>G (p.Lys157Glu) single nucleotide variant Inborn genetic diseases [RCV003281892] Chr16:4990890 [GRCh38]
Chr16:5040891 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.857G>A (p.Arg286His) single nucleotide variant Inborn genetic diseases [RCV003260982] Chr16:4996931 [GRCh38]
Chr16:5046932 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_014692.2(SEC14L5):c.29G>A (p.Arg10Gln) single nucleotide variant Inborn genetic diseases [RCV002860148] Chr16:4959352 [GRCh38]
Chr16:5009353 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1051C>G (p.Leu351Val) single nucleotide variant Inborn genetic diseases [RCV002773271] Chr16:5000735 [GRCh38]
Chr16:5050736 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.221G>C (p.Gly74Ala) single nucleotide variant Inborn genetic diseases [RCV002688715] Chr16:4988156 [GRCh38]
Chr16:5038157 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1207C>T (p.Arg403Trp) single nucleotide variant Inborn genetic diseases [RCV002729465] Chr16:5003478 [GRCh38]
Chr16:5053479 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.844C>T (p.Arg282Trp) single nucleotide variant Inborn genetic diseases [RCV002691776] Chr16:4996918 [GRCh38]
Chr16:5046919 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.672C>G (p.Asp224Glu) single nucleotide variant Inborn genetic diseases [RCV002978044] Chr16:4996352 [GRCh38]
Chr16:5046353 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.296A>G (p.Asn99Ser) single nucleotide variant Inborn genetic diseases [RCV002910858] Chr16:4988231 [GRCh38]
Chr16:5038232 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.845G>A (p.Arg282Gln) single nucleotide variant Inborn genetic diseases [RCV002660352] Chr16:4996919 [GRCh38]
Chr16:5046920 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.271A>G (p.Arg91Gly) single nucleotide variant Inborn genetic diseases [RCV002980485] Chr16:4988206 [GRCh38]
Chr16:5038207 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.556G>A (p.Val186Ile) single nucleotide variant Inborn genetic diseases [RCV002694385] Chr16:4991919 [GRCh38]
Chr16:5041920 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.749G>A (p.Arg250Gln) single nucleotide variant Inborn genetic diseases [RCV002987225] Chr16:4996429 [GRCh38]
Chr16:5046430 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1832A>G (p.Tyr611Cys) single nucleotide variant Inborn genetic diseases [RCV002916666] Chr16:5011126 [GRCh38]
Chr16:5061127 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.574C>T (p.Arg192Cys) single nucleotide variant Inborn genetic diseases [RCV002789441] Chr16:4991937 [GRCh38]
Chr16:5041938 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.852G>T (p.Met284Ile) single nucleotide variant Inborn genetic diseases [RCV002717950] Chr16:4996926 [GRCh38]
Chr16:5046927 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.683C>G (p.Ala228Gly) single nucleotide variant Inborn genetic diseases [RCV002808676] Chr16:4996363 [GRCh38]
Chr16:5046364 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.2051C>T (p.Ser684Phe) single nucleotide variant Inborn genetic diseases [RCV002669771] Chr16:5014930 [GRCh38]
Chr16:5064931 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1700C>T (p.Thr567Ile) single nucleotide variant Inborn genetic diseases [RCV003198298] Chr16:5008548 [GRCh38]
Chr16:5058549 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1019G>C (p.Gly340Ala) single nucleotide variant Inborn genetic diseases [RCV003180849] Chr16:5000703 [GRCh38]
Chr16:5050704 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1423G>T (p.Gly475Trp) single nucleotide variant Inborn genetic diseases [RCV003206924] Chr16:5006034 [GRCh38]
Chr16:5056035 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1726A>G (p.Lys576Glu) single nucleotide variant Inborn genetic diseases [RCV003211513] Chr16:5008574 [GRCh38]
Chr16:5058575 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.2032G>A (p.Ala678Thr) single nucleotide variant Inborn genetic diseases [RCV003189061] Chr16:5014911 [GRCh38]
Chr16:5064912 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.590C>T (p.Pro197Leu) single nucleotide variant Inborn genetic diseases [RCV003183704] Chr16:4991953 [GRCh38]
Chr16:5041954 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1212G>A (p.Met404Ile) single nucleotide variant Inborn genetic diseases [RCV003198447] Chr16:5003483 [GRCh38]
Chr16:5053484 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1520A>G (p.Gln507Arg) single nucleotide variant Inborn genetic diseases [RCV003196754] Chr16:5007434 [GRCh38]
Chr16:5057435 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1309C>T (p.Pro437Ser) single nucleotide variant Inborn genetic diseases [RCV003265739] Chr16:5005920 [GRCh38]
Chr16:5055921 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.2084C>G (p.Ser695Cys) single nucleotide variant Inborn genetic diseases [RCV003377313] Chr16:5014963 [GRCh38]
Chr16:5064964 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.821A>G (p.His274Arg) single nucleotide variant Inborn genetic diseases [RCV003367789] Chr16:4996895 [GRCh38]
Chr16:5046896 [GRCh37]
Chr16:16p13.3		 likely benign
NM_014692.2(SEC14L5):c.1319A>G (p.Asn440Ser) single nucleotide variant Inborn genetic diseases [RCV003346917] Chr16:5005930 [GRCh38]
Chr16:5055931 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.1309C>A (p.Pro437Thr) single nucleotide variant Inborn genetic diseases [RCV003385962] Chr16:5005920 [GRCh38]
Chr16:5055921 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.536C>T (p.Pro179Leu) single nucleotide variant Inborn genetic diseases [RCV003383394] Chr16:4991899 [GRCh38]
Chr16:5041900 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_014692.2(SEC14L5):c.856C>T (p.Arg286Cys) single nucleotide variant Inborn genetic diseases [RCV003349089] Chr16:4996930 [GRCh38]
Chr16:5046931 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3 copy number gain not provided [RCV003485087] Chr16:4462897..5172225 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:4971768-5305499)x3 copy number gain not provided [RCV003485088] Chr16:4971768..5305499 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2290
Count of miRNA genes:1103
Interacting mature miRNAs:1348
Transcripts:ENST00000251170, ENST00000587469
Prediction methods: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
SHGC-60724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,068,996 - 5,069,145UniSTSGRCh37
Build 36165,008,997 - 5,009,146RGDNCBI36
Celera165,278,377 - 5,278,526RGD
Cytogenetic Map16p13.3UniSTS
HuRef165,035,052 - 5,035,201UniSTS
GeneMap99-GB4 RH Map1660.16UniSTS
Whitehead-RH Map1630.0UniSTS
RH68422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,066,701 - 5,066,832UniSTSGRCh37
Build 36165,006,702 - 5,006,833RGDNCBI36
Celera165,276,082 - 5,276,213RGD
Cytogenetic Map16p13.3UniSTS
HuRef165,032,757 - 5,032,888UniSTS
GeneMap99-GB4 RH Map1660.98UniSTS


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 1 38 10 2 2 512 30 1988 10 8 3 510
Low 1233 938 632 158 274 29 2844 1315 1639 101 931 422 131 1 724 1516 2
Below cutoff 1169 1992 997 389 1180 362 973 829 68 280 483 1130 38 479 757 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000251170   ⟹   ENSP00000251170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,958,330 - 5,019,157 (+)Ensembl
RefSeq Acc Id: ENST00000587469   ⟹   ENSP00000468423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,959,255 - 4,991,870 (+)Ensembl
RefSeq Acc Id: NM_014692   ⟹   NP_055507
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,958,330 - 5,019,157 (+)NCBI
GRCh37165,008,318 - 5,069,156 (+)RGD
Build 36164,948,319 - 5,009,157 (+)NCBI Archive
Celera165,217,701 - 5,278,537 (+)RGD
HuRef164,974,393 - 5,035,212 (+)RGD
CHM1_1165,009,162 - 5,070,362 (+)NCBI
T2T-CHM13v2.0164,987,865 - 5,048,658 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450497   ⟹   XP_024306265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,958,330 - 5,019,157 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024450498   ⟹   XP_024306266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,958,330 - 5,019,157 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054314486   ⟹   XP_054170461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,987,841 - 5,048,658 (+)NCBI
RefSeq Acc Id: XM_054314487   ⟹   XP_054170462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,987,819 - 5,048,658 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_055507   ⟸   NM_014692
- UniProtKB: O43304 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306265   ⟸   XM_024450497
- Peptide Label: isoform X1
- UniProtKB: O43304 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306266   ⟸   XM_024450498
- Peptide Label: isoform X1
- UniProtKB: O43304 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000468423   ⟸   ENST00000587469
RefSeq Acc Id: ENSP00000251170   ⟸   ENST00000251170
RefSeq Acc Id: XP_054170462   ⟸   XM_054314487
- Peptide Label: isoform X1
- UniProtKB: O43304 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054170461   ⟸   XM_054314486
- Peptide Label: isoform X1
- UniProtKB: O43304 (UniProtKB/Swiss-Prot)
Protein Domains
CRAL-TRIO   GOLD   PRELI/MSF1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43304-F1-model_v2 AlphaFold O43304 1-696 view protein structure

Promoters
RGD ID:7231251
Promoter ID:EPDNEW_H21370
Type:initiation region
Name:SEC14L5_1
Description:SEC14 like lipid binding 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21368  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,958,330 - 4,958,390EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29032 AgrOrtholog
COSMIC SEC14L5 COSMIC
Ensembl Genes ENSG00000103184 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000251170 ENTREZGENE
  ENST00000251170.12 UniProtKB/Swiss-Prot
  ENST00000587469.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.525.10 UniProtKB/Swiss-Prot
  GOLD domain UniProtKB/Swiss-Prot
GTEx ENSG00000103184 GTEx
HGNC ID HGNC:29032 ENTREZGENE
Human Proteome Map SEC14L5 Human Proteome Map
InterPro CRAL-TRIO_dom UniProtKB/Swiss-Prot
  CRAL-TRIO_dom_sf UniProtKB/Swiss-Prot
  CRAL/TRIO_N_dom UniProtKB/Swiss-Prot
  CRAL/TRIO_N_dom_sf UniProtKB/Swiss-Prot
  GOLD_dom UniProtKB/Swiss-Prot
  GOLD_dom_sf UniProtKB/Swiss-Prot
  PRELI/MSF1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Slowmo/Ups UniProtKB/TrEMBL
KEGG Report hsa:9717 UniProtKB/Swiss-Prot
NCBI Gene 9717 ENTREZGENE
OMIM 619412 OMIM
PANTHER MSF1/PX19 RELATED UniProtKB/TrEMBL
  PRELI/MSF1 DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  SEC14 RELATED PROTEIN UniProtKB/Swiss-Prot
  SEC14-LIKE PROTEIN 5 UniProtKB/Swiss-Prot
Pfam CRAL_TRIO UniProtKB/Swiss-Prot
  CRAL_TRIO_N UniProtKB/Swiss-Prot
  PRELI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142670939 PharmGKB
PRINTS CRETINALDHBP UniProtKB/Swiss-Prot
PROSITE CRAL_TRIO UniProtKB/Swiss-Prot
  GOLD UniProtKB/Swiss-Prot
  PRELI_MSF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CRAL_TRIO_N UniProtKB/Swiss-Prot
  SEC14 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF101576 UniProtKB/Swiss-Prot
  SSF46938 UniProtKB/Swiss-Prot
  SSF52087 UniProtKB/Swiss-Prot
UniProt K7ERV2_HUMAN UniProtKB/TrEMBL
  O43304 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 SEC14L5  SEC14 like lipid binding 5    SEC14-like lipid binding 5  Symbol and/or name change 5135510 APPROVED
2015-07-28 SEC14L5  SEC14-like lipid binding 5    SEC14-like 5 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED