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Gene: TRAPPC3L (trafficking protein particle complex subunit 3L) Homo sapiens

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Symbol:

TRAPPC3L

Name:

trafficking protein particle complex subunit 3L

RGD ID:

1342888

HGNC Page

HGNC:21090

Description:

Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport and intra-Golgi vesicle-mediated transport. Part of TRAPP complex.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

bA259P20.2; BET3-like protein; BET3L; FLJ11180; trafficking protein particle complex 3 like; trafficking protein particle complex 3-like; trafficking protein particle complex subunit 3 like; trafficking protein particle complex subunit 3-like protein; TRAPPC3-like protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	116,494,989 - 116,545,684 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	116,494,989 - 116,545,684 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	116,816,152 - 116,866,847 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	116,924,445 - 116,973,466 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	6	117,560,713 - 117,609,844 (-)	NCBI		Celera
Cytogenetic Map	6	q22.1	NCBI
HuRef	6	114,397,502 - 114,446,358 (-)	NCBI		HuRef
CHM1_1	6	117,081,262 - 117,130,402 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	117,678,730 - 117,729,406 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRAPPC3L	Human	body dysmorphic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Dysmorphic features	ClinVar	PMID:24824130
TRAPPC3L	Human	congenital disorder of glycosylation Iaa		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital disorder of glycosylation and type IAA	ClinVar	PMID:28492532 more ...
TRAPPC3L	Human	intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual functioning disability	ClinVar	PMID:24824130
TRAPPC3L	Human	microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:24824130
TRAPPC3L	Human	Tremor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Tremor	ClinVar	PMID:24824130

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRAPPC3L	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of TRAPPC3L mRNA	CTD	PMID:36828454
TRAPPC3L	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of TRAPPC3L gene	CTD	PMID:31601247
TRAPPC3L	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to TRAPPC3L gene]	CTD	PMID:28238834
TRAPPC3L	Human	Cuprizon	decreases expression	ISO	Trappc3l (Rattus norvegicus)	6480464	Cuprizone results in decreased expression of TRAPPC3L mRNA	CTD	PMID:27523638
TRAPPC3L	Human	Licochalcone B	decreases expression	EXP		6480464	licochalcone B results in decreased expression of TRAPPC3L mRNA	CTD	PMID:33647349
TRAPPC3L	Human	propanal	decreases expression	EXP		6480464	propionaldehyde results in decreased expression of TRAPPC3L mRNA	CTD	PMID:26079696
TRAPPC3L	Human	trichloroethene	decreases expression	ISO	Trappc3l (Rattus norvegicus)	6480464	Trichloroethylene results in decreased expression of TRAPPC3L mRNA	CTD	PMID:33387578
TRAPPC3L	Human	zearalenone	increases expression	EXP		6480464	Zearalenone results in increased expression of TRAPPC3L mRNA	CTD	PMID:36828454

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRAPPC3L	Human	endoplasmic reticulum to Golgi vesicle-mediated transport	involved_in	IBA	MGI:1351486 more ...	150520179		GO_Central	GO_REF:0000033
TRAPPC3L	Human	Golgi vesicle transport	involved_in	IEA	InterPro:IPR016721	150520179		InterPro	GO_REF:0000002
TRAPPC3L	Human	intra-Golgi vesicle-mediated transport	involved_in	IBA	PANTHER:PTN000316141 and SGD:S000001776	150520179		GO_Central	GO_REF:0000033
TRAPPC3L	Human	vesicle-mediated transport	involved_in	IEA	UniProtKB-KW:KW-0931	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRAPPC3L	Human	cis-Golgi network membrane	is_active_in	IBA	PANTHER:PTN000316141 and SGD:S000001776	150520179		GO_Central	GO_REF:0000033
TRAPPC3L	Human	cytosol	is_active_in	IBA	MGI:1351486 more ...	150520179		GO_Central	GO_REF:0000033
TRAPPC3L	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-SubCell:SL-0095	150520179		UniProt	GO_REF:0000044
TRAPPC3L	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
TRAPPC3L	Human	Golgi apparatus	located_in	IEA	UniProtKB-SubCell:SL-0132	150520179		UniProt	GO_REF:0000044
TRAPPC3L	Human	Golgi apparatus	located_in	IEA	UniProtKB-KW:KW-0333	150520179		UniProt	GO_REF:0000043
TRAPPC3L	Human	TRAPP complex	part_of	IDA		150520179	PMID:21525244	UniProt	PMID:21525244
TRAPPC3L	Human	TRAPP complex	part_of	IBA	FB:FBgn0260859 more ...	150520179		GO_Central	GO_REF:0000033
TRAPPC3L	Human	TRAPP complex	part_of	IEA	InterPro:IPR016721	150520179		InterPro	GO_REF:0000002

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRAPPC3L	Human	protein binding	enables	IPI	UniProtKB:P0DI81 more ...	150520179	PMID:21525244	UniProt	PMID:21525244

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TRAPPC3L	Human	Delayed speech and language development		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Delayed speech	ClinVar	PMID:24824130
TRAPPC3L	Human	Delayed speech and language development		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Delayed speech and language development	ClinVar	PMID:24824130
TRAPPC3L	Human	Hypotonia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Muscle hypotonia	ClinVar	PMID:24824130

#	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

PMID:12477932	PMID:14574404	PMID:14702039	PMID:15489334	PMID:20379614	PMID:21525244	PMID:21873635

TRAPPC3L
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	6	116,494,989 - 116,545,684 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	6	116,494,989 - 116,545,684 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	6	116,816,152 - 116,866,847 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	6	116,924,445 - 116,973,466 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	6	117,560,713 - 117,609,844 (-)	NCBI		Celera
Cytogenetic Map	6	q22.1	NCBI
HuRef	6	114,397,502 - 114,446,358 (-)	NCBI		HuRef
CHM1_1	6	117,081,262 - 117,130,402 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	6	117,678,730 - 117,729,406 (-)	NCBI		T2T-CHM13v2.0

Trappc3l
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	33,913,593 - 33,985,811 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	33,913,593 - 33,985,811 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	34,037,597 - 34,109,815 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	34,037,597 - 34,109,815 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	33,757,403 - 33,829,621 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
Celera	10	34,947,918 - 35,019,526 (+)	NCBI		Celera
Cytogenetic Map	10	B1	NCBI
cM Map	10	18.85	NCBI

Trappc3l
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	20	26,536,078 - 26,627,648 (+)	NCBI		GRCr8
mRatBN7.2	20	25,992,835 - 26,084,938 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	20	25,967,502 - 26,078,989 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	20	27,578,268 - 27,664,689 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	20	27,592,379 - 27,664,595 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	20	29,405,969 - 29,490,324 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	20	37,686,628 - 37,766,025 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	20	27,447,676 - 27,532,831 (+)	NCBI		Celera
Cytogenetic Map	20	q11	NCBI

Trappc3l
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955526	132,316 - 218,981 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955526	120,620 - 217,855 (+)	NCBI	ChiLan1.0	ChiLan1.0

TRAPPC3L
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	5	136,507,583 - 136,559,422 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	6	134,401,606 - 134,452,441 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	6	114,303,027 - 114,355,958 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	6	118,449,431 - 118,498,836 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	6	118,449,441 - 118,498,836 (-)	Ensembl	panpan1.1		panPan2

TRAPPC3L
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	56,922,018 - 56,986,818 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	56,924,057 - 56,958,307 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	57,716,553 - 57,782,108 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	57,103,276 - 57,168,846 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	57,104,997 - 57,168,090 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	56,997,701 - 57,063,253 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	56,845,895 - 56,911,400 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	57,474,839 - 57,539,912 (-)	NCBI		UU_Cfam_GSD_1.0

Trappc3l
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404946	107,323,651 - 107,365,946 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936824	1,046,502 - 1,091,218 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936824	1,048,636 - 1,090,900 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TRAPPC3L
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	1	82,102,134 - 82,144,216 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	1	82,100,970 - 82,145,418 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	1	92,355,182 - 92,368,483 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TRAPPC3L
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	13	57,263,072 - 57,316,383 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	13	57,265,724 - 57,315,607 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666040	29,598,682 - 29,646,129 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Trappc3l
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624856	1,871,510 - 1,945,004 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624856	1,871,510 - 1,945,004 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TRAPPC3L
48 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	copy number loss	See cases [RCV000051196]	Chr6:108944899..132067720 [GRCh38] Chr6:109266102..132388860 [GRCh37] Chr6:109372795..132430553 [NCBI36] Chr6:6q21-23.2	pathogenic
GRCh38/hg38 6q22.1(chr6:115220054-117196371)x1	copy number loss	See cases [RCV000052195]	Chr6:115220054..117196371 [GRCh38] Chr6:115541218..117517534 [GRCh37] Chr6:115647911..117624227 [NCBI36] Chr6:6q22.1	pathogenic
GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	copy number loss	See cases [RCV000052196]	Chr6:115601230..128514324 [GRCh38] Chr6:115922394..128835469 [GRCh37] Chr6:116029087..128877162 [NCBI36] Chr6:6q22.1-22.33	pathogenic
GRCh38/hg38 6q22.1-22.2(chr6:115326962-117935240)x1	copy number loss	See cases [RCV000135623]	Chr6:115326962..117935240 [GRCh38] Chr6:115648126..118256403 [GRCh37] Chr6:115754819..118363096 [NCBI36] Chr6:6q22.1-22.2	likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	copy number gain	See cases [RCV000139729]	Chr6:74382807..142040500 [GRCh38] Chr6:75092523..142361637 [GRCh37] Chr6:75149243..142403330 [NCBI36] Chr6:6q13-24.1	pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	copy number loss	See cases [RCV000141587]	Chr6:106503719..125781219 [GRCh38] Chr6:106951594..126102365 [GRCh37] Chr6:107058287..126144058 [NCBI36] Chr6:6q21-22.31	pathogenic
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	deletion	Dysmorphic features [RCV000157073]	Chr6:112511752..118037595 [GRCh37] Chr6:6q21-22.1	pathogenic
NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	deletion	Delayed speech and language development [RCV000157076]	Chr6:116735056..119687719 [GRCh37] Chr6:6q22.1-22.31	pathogenic
GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	copy number loss	See cases [RCV000139465]	Chr6:96609994..122161548 [GRCh38] Chr6:97057870..122482694 [GRCh37] Chr6:97164591..122524393 [NCBI36] Chr6:6q16.1-22.31	pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	copy number loss	See cases [RCV000143227]	Chr6:100054889..120488154 [GRCh38] Chr6:100502765..120809300 [GRCh37] Chr6:100609486..120850999 [NCBI36] Chr6:6q16.3-22.31	pathogenic
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	copy number loss	6q21-6q22.1 deletion [RCV000416567]	Chr6:112069445..120994664 [GRCh37] Chr6:6q21-22.31	likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	copy number gain	See cases [RCV000510595]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	copy number loss	Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432]	Chr6:112939290..132327952 [GRCh37] Chr6:6q21-23.2	drug response
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3	copy number gain	not provided [RCV000745400]	Chr6:60107..171054786 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3	copy number gain	not provided [RCV000745403]	Chr6:108666..170980171 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q21-22.1(chr6:114318401-116957002)x3	copy number gain	not provided [RCV000487884]	Chr6:114318401..116957002 [GRCh37] Chr6:6q21-22.1	uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1	copy number loss	See cases [RCV000445666]	Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31	pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	copy number gain	See cases [RCV000512067]	Chr6:156975..170919482 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	copy number loss	not provided [RCV000682711]	Chr6:113261042..117842826 [GRCh37] Chr6:6q21-22.1	pathogenic
GRCh37/hg19 6q22.1(chr6:116656963-116903944)x3	copy number gain	not provided [RCV000682713]	Chr6:116656963..116903944 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q22.1(chr6:116601285-117057982)x3	copy number gain	not provided [RCV000745999]	Chr6:116601285..117057982 [GRCh37] Chr6:6q22.1	benign
NM_001139444.3(TRAPPC3L):c.253A>G (p.Met85Val)	single nucleotide variant	not specified [RCV004293812]	Chr6:116500654 [GRCh38] Chr6:116821817 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	copy number gain	Microcephaly [RCV001251053]	Chr6:101296547..117004249 [GRCh37] Chr6:6q16.3-22.1	pathogenic
NM_001139444.3(TRAPPC3L):c.511A>G (p.Lys171Glu)	single nucleotide variant	not specified [RCV004265065]	Chr6:116496989 [GRCh38] Chr6:116818152 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.35A>G (p.His12Arg)	single nucleotide variant	not specified [RCV004677520]	Chr6:116545480 [GRCh38] Chr6:116866643 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3	copy number gain	not provided [RCV000745404]	Chr6:165632..170919470 [GRCh37] Chr6:6p25.3-q27	pathogenic
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	copy number loss	not provided [RCV000848701]	Chr6:110981075..119608396 [GRCh37] Chr6:6q21-22.31	pathogenic
NM_001139444.3(TRAPPC3L):c.368G>A (p.Arg123Gln)	single nucleotide variant	not specified [RCV004286549]	Chr6:116500539 [GRCh38] Chr6:116821702 [GRCh37] Chr6:6q22.1	uncertain significance
Single allele	deletion	Interstitial 6q microdeletion syndrome [RCV002280353]	Chr6:115941808..133892653 [GRCh38] Chr6:6q22.1-23.2	pathogenic
NC_000006.11:g.116734559_123648104del	deletion	6q22.1 Microdeletion Syndrome [RCV004799444]	Chr6:116734559..123648104 [GRCh37] Chr6:6q22.1-22.31	pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	copy number loss	not specified [RCV002053595]	Chr6:85988428..120548687 [GRCh37] Chr6:6q14.3-22.31	pathogenic
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	copy number loss	not specified [RCV002053598]	Chr6:92054891..118329651 [GRCh37] Chr6:6q15-22.2	pathogenic
GRCh37/hg19 6q22.1-22.31(chr6:116212698-119482708)	copy number loss	not specified [RCV002053610]	Chr6:116212698..119482708 [GRCh37] Chr6:6q22.1-22.31	pathogenic\|uncertain significance
NC_000006.11:g.(?_116441236)_(119252888_?)del	deletion	Congenital disorder of glycosylation, type IAA [RCV003123076]	Chr6:116441236..119252888 [GRCh37] Chr6:6q22.1-22.31	pathogenic
GRCh37/hg19 6q22.1(chr6:116787149-116953270)x1	copy number loss	not provided [RCV002473887]	Chr6:116787149..116953270 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.457C>A (p.Gln153Lys)	single nucleotide variant	not specified [RCV004144845]	Chr6:116497043 [GRCh38] Chr6:116818206 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.535G>A (p.Gly179Arg)	single nucleotide variant	not specified [RCV004202190]	Chr6:116496965 [GRCh38] Chr6:116818128 [GRCh37] Chr6:6q22.1	likely benign
NM_001139444.3(TRAPPC3L):c.62T>C (p.Leu21Pro)	single nucleotide variant	not specified [RCV004171787]	Chr6:116543381 [GRCh38] Chr6:116864544 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.254T>C (p.Met85Thr)	single nucleotide variant	not specified [RCV004285145]	Chr6:116500653 [GRCh38] Chr6:116821816 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.374C>T (p.Ser125Phe)	single nucleotide variant	not specified [RCV004323947]	Chr6:116500533 [GRCh38] Chr6:116821696 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	copy number loss	6q terminal deletion syndrome [RCV003319582]	Chr6:112713854..124105184 [GRCh37] Chr6:6q21-22.31	likely pathogenic
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	copy number loss	Intellectual disability, autosomal dominant 55, with seizures [RCV003327704]	Chr6:113857248..130442177 [GRCh38] Chr6:6q21-23.1	pathogenic
NM_153711.5(CALHM5):c.181G>C (p.Val61Leu)	single nucleotide variant	not specified [RCV004358655]	Chr6:116511877 [GRCh38] Chr6:116833040 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	copy number gain	not specified [RCV003986625]	Chr6:110546061..131896074 [GRCh37] Chr6:6q21-23.2	likely pathogenic
NM_153711.5(CALHM5):c.512T>C (p.Leu171Pro)	single nucleotide variant	not specified [RCV004434570]	Chr6:116512208 [GRCh38] Chr6:116833371 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.224T>C (p.Ile75Thr)	single nucleotide variant	not specified [RCV004473409]	Chr6:116540379 [GRCh38] Chr6:116861542 [GRCh37] Chr6:6q22.1	likely benign
NM_153711.5(CALHM5):c.569C>T (p.Ala190Val)	single nucleotide variant	not specified [RCV004434573]	Chr6:116515628 [GRCh38] Chr6:116836791 [GRCh37] Chr6:6q22.1	uncertain significance
GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	copy number loss	not provided [RCV004577478]	Chr6:109324789..124836619 [GRCh37] Chr6:6q21-22.31	pathogenic
NM_001139444.3(TRAPPC3L):c.255G>A (p.Met85Ile)	single nucleotide variant	not specified [RCV004473410]	Chr6:116500652 [GRCh38] Chr6:116821815 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.52C>T (p.Leu18Phe)	single nucleotide variant	not specified [RCV004473411]	Chr6:116543391 [GRCh38] Chr6:116864554 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.476G>A (p.Gly159Asp)	single nucleotide variant	not specified [RCV004600601]	Chr6:116512172 [GRCh38] Chr6:116833335 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.854T>G (p.Val285Gly)	single nucleotide variant	not specified [RCV004600602]	Chr6:116515913 [GRCh38] Chr6:116837076 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.442G>C (p.Glu148Gln)	single nucleotide variant	not specified [RCV004892618]	Chr6:116512138 [GRCh38] Chr6:116833301 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.586C>T (p.Leu196Phe)	single nucleotide variant	not specified [RCV004895445]	Chr6:116515645 [GRCh38] Chr6:116836808 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.379T>C (p.Cys127Arg)	single nucleotide variant	not specified [RCV004895446]	Chr6:116512075 [GRCh38] Chr6:116833238 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.205C>A (p.Leu69Met)	single nucleotide variant	not specified [RCV004895444]	Chr6:116511901 [GRCh38] Chr6:116833064 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.437C>T (p.Ala146Val)	single nucleotide variant	not specified [RCV004253500]	Chr6:116497063 [GRCh38] Chr6:116818226 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.194T>C (p.Leu65Pro)	single nucleotide variant	not specified [RCV004274571]	Chr6:116511890 [GRCh38] Chr6:116833053 [GRCh37] Chr6:6q22.1	likely benign
NM_001139444.3(TRAPPC3L):c.497T>G (p.Ile166Arg)	single nucleotide variant	not specified [RCV004266533]	Chr6:116497003 [GRCh38] Chr6:116818166 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.287A>C (p.Asn96Thr)	single nucleotide variant	not specified [RCV004280494]	Chr6:116500620 [GRCh38] Chr6:116821783 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.860A>G (p.Asn287Ser)	single nucleotide variant	not specified [RCV004259338]	Chr6:116515919 [GRCh38] Chr6:116837082 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.387G>A (p.Met129Ile)	single nucleotide variant	not specified [RCV004434568]	Chr6:116512083 [GRCh38] Chr6:116833246 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.644G>C (p.Trp215Ser)	single nucleotide variant	not specified [RCV004434576]	Chr6:116515703 [GRCh38] Chr6:116836866 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.188T>C (p.Leu63Pro)	single nucleotide variant	not specified [RCV004434564]	Chr6:116511884 [GRCh38] Chr6:116833047 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.270A>T (p.Arg90Ser)	single nucleotide variant	not specified [RCV004434565]	Chr6:116511966 [GRCh38] Chr6:116833129 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.343C>G (p.Leu115Val)	single nucleotide variant	not specified [RCV004434567]	Chr6:116512039 [GRCh38] Chr6:116833202 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.773C>T (p.Thr258Met)	single nucleotide variant	not specified [RCV004434577]	Chr6:116515832 [GRCh38] Chr6:116836995 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.866T>C (p.Leu289Pro)	single nucleotide variant	not specified [RCV004434578]	Chr6:116515925 [GRCh38] Chr6:116837088 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.572C>G (p.Ser191Cys)	single nucleotide variant	not specified [RCV004434574]	Chr6:116515631 [GRCh38] Chr6:116836794 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.310A>G (p.Thr104Ala)	single nucleotide variant	not specified [RCV004434566]	Chr6:116512006 [GRCh38] Chr6:116833169 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.473G>A (p.Cys158Tyr)	single nucleotide variant	not specified [RCV004434569]	Chr6:116512169 [GRCh38] Chr6:116833332 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.530C>T (p.Ala177Val)	single nucleotide variant	not specified [RCV004434571]	Chr6:116512226 [GRCh38] Chr6:116833389 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.557T>C (p.Leu186Pro)	single nucleotide variant	not specified [RCV004434572]	Chr6:116515616 [GRCh38] Chr6:116836779 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.604C>T (p.Arg202Cys)	single nucleotide variant	not specified [RCV004434575]	Chr6:116515663 [GRCh38] Chr6:116836826 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.539A>G (p.Lys180Arg)	single nucleotide variant	not specified [RCV004878528]	Chr6:116496961 [GRCh38] Chr6:116818124 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.496A>G (p.Ile166Val)	single nucleotide variant	not specified [RCV004878529]	Chr6:116497004 [GRCh38] Chr6:116818167 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.406A>T (p.Ile136Phe)	single nucleotide variant	not specified [RCV004878530]	Chr6:116500501 [GRCh38] Chr6:116821664 [GRCh37] Chr6:6q22.1	uncertain significance
NM_001139444.3(TRAPPC3L):c.391T>G (p.Leu131Val)	single nucleotide variant	not specified [RCV004878531]	Chr6:116500516 [GRCh38] Chr6:116821679 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.611G>A (p.Arg204Gln)	single nucleotide variant	not specified [RCV004895440]	Chr6:116515670 [GRCh38] Chr6:116836833 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.878C>T (p.Pro293Leu)	single nucleotide variant	not specified [RCV004895441]	Chr6:116515937 [GRCh38] Chr6:116837100 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.450G>C (p.Trp150Cys)	single nucleotide variant	not specified [RCV004895442]	Chr6:116512146 [GRCh38] Chr6:116833309 [GRCh37] Chr6:6q22.1	uncertain significance
NM_153711.5(CALHM5):c.38A>T (p.Asn13Ile)	single nucleotide variant	not specified [RCV004895443]	Chr6:116511734 [GRCh38] Chr6:116832897 [GRCh37] Chr6:6q22.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	935
Count of miRNA genes:	470
Interacting mature miRNAs:	521
Transcripts:	ENST00000356128, ENST00000368602, ENST00000437098
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597020264	GWAS1116338_H	pelvic organ prolapse QTL GWAS1116338 (human)		0.000006	pelvic organ prolapse		6	116534789	116534791	Human

RH94021

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,840,627 - 116,840,760	UniSTS	GRCh37
Build 36	6	116,947,320 - 116,947,453	RGD	NCBI36
Celera	6	117,583,694 - 117,583,827	RGD
Cytogenetic Map	6	q22.1	UniSTS
HuRef	6	114,420,203 - 114,420,336	UniSTS
GeneMap99-GB4 RH Map	6	490.51	UniSTS

SHGC-54632

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	116,839,261 - 116,839,392	UniSTS	GRCh37
Build 36	6	116,945,954 - 116,946,085	RGD	NCBI36
Celera	6	117,582,328 - 117,582,459	RGD
Cytogenetic Map	6	q22.1	UniSTS
HuRef	6	114,418,837 - 114,418,968	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
1086	1862	2214	2053	3550	1447	1881	4	425	1224	309	1482	5565	5237	30	3022	642	1400	1368	119	1


RefSeq Transcripts	NM_001139444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI090359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI745276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK002042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121953	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL445224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC127757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC127758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE501784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX280366	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DY655209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000356128 ⟹ ENSP00000348445

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,494,989 - 116,512,343 (-)	Ensembl

Ensembl Acc Id:

ENST00000368602 ⟹ ENSP00000357591

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,494,989 - 116,545,684 (-)	Ensembl

Ensembl Acc Id:

ENST00000437098 ⟹ ENSP00000395769

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	6	116,496,483 - 116,543,400 (-)	Ensembl

RefSeq Acc Id:

NM_001139444 ⟹ NP_001132916

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	6	116,494,989 - 116,545,684 (-)	NCBI
GRCh37	6	116,817,646 - 116,866,773 (-)	RGD
Celera	6	117,560,713 - 117,609,844 (-)	RGD
HuRef	6	114,397,502 - 114,446,358 (-)	ENTREZGENE
CHM1_1	6	117,081,262 - 117,130,402 (-)	NCBI
T2T-CHM13v2.0	6	117,678,730 - 117,729,406 (-)	NCBI

Sequence:

show sequence

CCTCTTCAGCTCAGCAAAGAGCAAAAGCAGCAGAGTGCAGAAGCAGCACTCCTGTCTCAAAGCGAGGAAGAGCTTACAAAAACAAAACAAAAAGACATGGACTGATACACCTCTAAGAAACAGGCAAA
AGAAGAGAAATTGAAGATCATATTCTTCATCTATCAAGCACTATGTCTCGCCCTGCACACCGAAGACCAGAATACCATAAAATAAATAAAGATCTCTTTGTCCTTACCTATGGAGCTCTGGTTGCCCA
GCTGTGTAAGGATTATGAGAAGGATGAAGATGTGAACCAATATTTAGATAAAATGGGTTACGGCATTGGAACGCGGCTTGTGGAAGACTTTTTGGCTCGATCCTGCGTGGGAAGATGCCATAGTTATT
CAGAAATTATAGACATAATTGCCCAGGTTGCTTTCAAGATGTACCTGGGAATTACACCAAGTGTGACCTGTAACAATTCAAGCAAAAATGAATTTTCCCTGATTCTAGAGAAGAATCCCCTGGTGGAG
TTTGTGGAAGAGCTCCCTGCTGGGCGATCTTCTCTGTGCTACTGCAACTTGCTCTGTGGGATTATCAGAGGTGCCTTGGAAATGGTTCATTTGGCGGCTGATGTTACATTCTTGCAAGACAGACTAAA
AGGTGACAGTGTGACAGAAATAGGAATAACATTTCTAAAAAAGCGAGACGAGAAAAAATATAGAGGGAAAAAATGAAGACTAGCACGGAAAATGCCACGGGGCGGCTAGCTGAGTTAATGTTAGCTAA
ACATGTATAGACATAGAAATTTTGAATTGCTTCATAGCATGAGCTTTGAAAGGTTTATAAATCAGCCAGAAATTTGAAATGCAGGGCATGAAGGCTTAAAGGTTTTTTTTTCCTTTTGCTTATAAATC
ACGCATTTTCAATCTCATGTCCACAAAATTTCATATGCAAATAGCTCCTTACAAGATAGCAGGCAGGAATTCCACATCTTACACTATCCATCCTCAGAGAAGCTGTTCATTCCATTCACGTATGGTAA
TGGGAAAAAAAAGCAGCACAAATACAAACAGTTGTGTATTTGTCTCTTTGCTGAAAAAAAAAGAATGAAATGATATAGCATAGAGTTTCCTATATATAGACAGTAGTTTCTAGATACTGTATATTGCA
TTCCTTAAATAAATAATTCCATATTTCTAAAAAAATATGATTTGATTTTTCTCATGTATTAGCTTGGCTTATAGCTTTAGCCTTCTGACGCTACCCTTGATTTGTAATCACCAAGTCAAGCTATTTAT
TCAATGATAATTTTGAAACATTTATAAATAACATTTAATTTTAATTTATTTAGTTTTAATATAGCTGGCATCAACCAAATTCCTTCCTTTTCTCATGAAATATTGCTTGATGGTCAGGCCAGGAAACT
TCTAAAATAAAGGATAAATAATATTCTTTGAAATTACTTTCTTACCCCAAAGCTTATTAATTCAGAATTTCTACTATCATTTTCATCCTCTAAAAAATCTTCCAAAGGATGTTTTCTTTGTGACCAGA
ACACATTTAAAATTCAAGTGTACCGAATTAAATACACAGTAATCTTCACCAGACCACTGGCACACAAGGGCGGCCTACAAGGCAGCCCAGAATCTACTGGGCTCTGCAGAGAGCCCAAATTGCAAGTA
CAAGTTATAATTAGTGTGATACCACCCTACGGAATTGGAGAAAATATTTGTAAACTATGTATCTGACACCCTTGTGCTATTAATAACCAGAATATATAAGGAGTTCAACCAACTCCATAGGAAAAAAT
TAAAATTAATAATCCAATTAAAGATGGGCAAAAGATCTGAATAGACATTTCTCAAAAGAAGACATACACATACAAATGGCAAACAGGTATATGAAAAGGTGCTCAACATCATTGGTCATCAGAGAAAT
GCAAATCAAAACTATAATGAGATATTATCTCACCCTAGTTAAAAATGGCTTTTATCCAAAACAGGCAATAGTGAATGCTTGCAAAGATGTGGAGAAGAGGGAACTCTGGTACACTGTTGGTGGGAATG
TAAATTAGTATAACCACTATGGAGAACGGTTTGGAGGTTCCTCAAAAAACAAAAAATAGAATGATCATATGATCCAGCAATCCCACTGCTGGATATATACCCAAAATAAAGGAAATCAGTATATCAAA
GAGATATCTGCACTCCCATGTTTACTGCAGAACTACTGACGATAGCTAAGATTTGGAAGAAATCTAAGTGTCCTTCAATAGATTAATGAAATAAAGAAAATATGGTACATATACACAATGGAGTACTA
TTCAGCCATAAAGAAGAATGAGATCCTGTCATTTGCAAAACATGGATGGAACTAGAGGTCATTATGTTCAATGAAATATGTCAGGACAGAAAGACAGACTTTGCATGTTCTCATTTATTTGTAGGAGC
TAAAAATTAAAACAGTGGACTCATGGAGATATGGAGTAAAATGATGGATATCAGAGGCTGGGAAGGGTAGTTTCAAGAGGAGTGGAGATGGTTAATGGGTACAAAAATATAGTTAGATAGAATGAATA
AGATCTGGGTCGGGCATGGTGGCACAAGCCTGTAATCTCTGCACTTTGGGATGCCAAAGTGGGAGGATTGCTTGAGCTCAGGAGTTTGAGACCAGCTTGGGTAACATAGACCCCTGTCTCT

hide sequence


Protein RefSeqs	NP_001132916	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI27758	(Get FASTA)	NCBI Sequence Viewer
	AAI27759	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000348445.4
	ENSP00000357591
	ENSP00000357591.3
GenBank Protein	Q5T215	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001132916 ⟸ NM_001139444
- UniProtKB:	Q5T215 (UniProtKB/Swiss-Prot), Q5T214 (UniProtKB/Swiss-Prot), Q5T213 (UniProtKB/Swiss-Prot), A0A0A0MSL6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSRPAHRRPEYHKINKDLFVLTYGALVAQLCKDYEKDEDVNQYLDKMGYGIGTRLVEDFLARSCVGRCHSYSEIIDIIAQVAFKMYLGITPSVTCNNSSKNEFSLILEKNPLVEFVEELPAGRSSLCY CNLLCGIIRGALEMVHLAADVTFLQDRLKGDSVTEIGITFLKKRDEKKYRGKK hide sequence

Ensembl Acc Id:

ENSP00000357591 ⟸ ENST00000368602

Ensembl Acc Id:

ENSP00000348445 ⟸ ENST00000356128

Ensembl Acc Id:

ENSP00000395769 ⟸ ENST00000437098

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5T215-F1-model_v2	AlphaFold	Q5T215	1-181	view protein structure

Database	Acc Id	Source(s)
COSMIC	TRAPPC3L	COSMIC
Ensembl Genes	ENSG00000173626	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000356128.4	UniProtKB/Swiss-Prot
	ENST00000368602	ENTREZGENE
	ENST00000368602.4	UniProtKB/Swiss-Prot
Gene3D-CATH	Trafficking protein particle complex subunit 3	UniProtKB/Swiss-Prot
GTEx	ENSG00000173626	GTEx
HGNC ID	HGNC:21090	ENTREZGENE
Human Proteome Map	TRAPPC3L	Human Proteome Map
InterPro	Bet3	UniProtKB/Swiss-Prot
	NO_sig/Golgi_transp_ligand-bd	UniProtKB/Swiss-Prot
	TRAPP_component	UniProtKB/Swiss-Prot
KEGG Report	hsa:100128327	UniProtKB/Swiss-Prot
NCBI Gene	TRAPPC3L	ENTREZGENE
OMIM	614137	OMIM
PANTHER	PTHR13048	UniProtKB/Swiss-Prot
Pfam	TRAPP	UniProtKB/Swiss-Prot
PharmGKB	PA134866254	PharmGKB
PIRSF	TRAPP_I_complex_Bet3	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF111126	UniProtKB/Swiss-Prot
UniProt	A0A0A0MSL6	ENTREZGENE, UniProtKB/TrEMBL
	Q5T213	ENTREZGENE
	Q5T214	ENTREZGENE
	Q5T215	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q5T213	UniProtKB/Swiss-Prot
	Q5T214	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2021-02-15	TRAPPC3L	trafficking protein particle complex subunit 3L	TRAPPC3L	trafficking protein particle complex 3 like	Symbol and/or name change	19259463	PROVISIONAL
2016-02-29	TRAPPC3L	trafficking protein particle complex 3 like		trafficking protein particle complex 3-like	Symbol and/or name change	5135510	APPROVED
2013-08-20	TRAPPC3L	trafficking protein particle complex 3-like	BET3L	BET3 like (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar