CLBA1 (clathrin binding box of aftiphilin containing 1)

Gene: CLBA1 (clathrin binding box of aftiphilin containing 1) Homo sapiens

Analyze

Symbol:

CLBA1

Name:

clathrin binding box of aftiphilin containing 1

RGD ID:

1316438

HGNC Page

HGNC:20126

Description:

Predicted to enable clathrin binding activity. Predicted to be involved in intracellular transport. Predicted to be part of AP-1 adaptor complex. Predicted to be active in trans-Golgi network membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

C14orf79; chromosome 14 open reading frame 79; clathrin binding box of aftiphilin containing; clathrin-binding box of aftiphilin-containing protein 1; hypothetical protein LOC122616; uncharacterized protein C14orf79; uncharacterized protein CLBA1

RGD Orthologs

Alliance Genes

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	14	104,985,788 - 105,001,274 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	104,985,775 - 105,010,482 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	105,452,125 - 105,461,853 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	104,523,661 - 104,532,900 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	104,526,537 - 104,532,900	NCBI
Celera	14	85,506,829 - 85,516,068 (+)	NCBI		Celera
Cytogenetic Map	14	q32.33	NCBI
HuRef	14	85,646,461 - 85,655,693 (+)	NCBI		HuRef
CHM1_1	14	105,390,377 - 105,399,616 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	99,230,266 - 99,245,748 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Charcot-Marie-Tooth disease axonal type 2O (IAGP)

focal segmental glomerulosclerosis 5 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-sulfonyldiphenol (EXP)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (EXP)

cadmium dichloride (ISO)

dexamethasone (EXP)

dibutyl phthalate (ISO)

genistein (ISO)

gentamycin (ISO)

indometacin (EXP)

iron dichloride (EXP)

methyl methanesulfonate (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

rotenone (EXP)

sodium arsenate (EXP)

sodium arsenite (EXP,ISO)

tetrachloromethane (ISO)

trichloroethene (ISO)

urethane (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

intracellular transport (IBA,IEA)

Cellular Component

AP-1 adaptor complex (IBA)

trans-Golgi network membrane (IBA,IEA)

Molecular Function

clathrin binding (IBA,IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8619474	PMID:9110174	PMID:12477932	PMID:12508121	PMID:14702039	PMID:15489334	PMID:16112646	PMID:21873635	PMID:28514442	PMID:28611215	PMID:31586073	PMID:36543142

Genomics

Comparative Map Data

CLBA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	14	104,985,788 - 105,001,274 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	14	104,985,775 - 105,010,482 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	14	105,452,125 - 105,461,853 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	14	104,523,661 - 104,532,900 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	14	104,526,537 - 104,532,900	NCBI
Celera	14	85,506,829 - 85,516,068 (+)	NCBI		Celera
Cytogenetic Map	14	q32.33	NCBI
HuRef	14	85,646,461 - 85,655,693 (+)	NCBI		HuRef
CHM1_1	14	105,390,377 - 105,399,616 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	14	99,230,266 - 99,245,748 (+)	NCBI		T2T-CHM13v2.0

Clba1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	12	112,772,595 - 112,779,865 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	12	112,772,557 - 112,779,872 (+)	Ensembl		GRCm39 Ensembl
GRCm38	12	112,808,975 - 112,816,245 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	12	112,808,937 - 112,816,252 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	12	114,047,186 - 114,054,456 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	12	113,256,783 - 113,264,053 (+)	NCBI		MGSCv36	mm8
Celera	12	114,017,579 - 114,024,842 (+)	NCBI		Celera
Cytogenetic Map	12	F1	NCBI
cM Map	12	61.2	NCBI

Clba1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	137,703,947 - 137,710,743 (+)	NCBI		GRCr8
mRatBN7.2	6	131,882,866 - 131,889,662 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	131,882,609 - 131,889,662 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	132,052,761 - 132,059,557 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	132,342,975 - 132,349,889 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	131,717,251 - 131,724,151 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	137,386,694 - 137,393,490 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	137,386,422 - 137,393,506 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	146,389,788 - 146,396,584 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	137,809,373 - 137,816,169 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	137,815,559 - 137,822,355 (+)	NCBI
Celera	6	129,422,066 - 129,428,862 (+)	NCBI		Celera
Cytogenetic Map	6	q32	NCBI

Clba1
(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_004955538	3,333,957 - 3,341,256 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955538	3,325,052 - 3,340,534 (+)	NCBI	ChiLan1.0	ChiLan1.0

CLBA1
(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	15	106,167,242 - 106,188,879 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	14	105,386,674 - 105,397,168 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	14	85,634,349 - 85,649,411 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	14	105,419,840 - 105,429,263 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	14	105,419,834 - 105,441,870 (+)	Ensembl	panpan1.1		panPan2

CLBA1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	8	72,448,580 - 72,454,685 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	8	72,443,323 - 72,454,191 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	8	71,959,132 - 71,967,232 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	8	72,734,778 - 72,742,877 (+)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	8	72,417,326 - 72,423,576 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	8	72,461,885 - 72,468,127 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	8	72,855,875 - 72,863,973 (+)	NCBI		UU_Cfam_GSD_1.0

Clba1
(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_024408640	1,636,052 - 1,643,623 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936621	464,507 - 472,642 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936621	464,993 - 472,608 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CLBA1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa10.2	7	131,256,197 - 131,260,838 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CLBA1
(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	24	82,905,148 - 82,918,368 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	24	82,905,218 - 82,916,861 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666053	70,337,315 - 70,350,265 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Clba1
(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_004624734	394,627 - 401,296 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624734	394,718 - 401,828 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 14q32.2-32.33(chr14:100309382-106855263)x1	copy number loss	See cases [RCV000050938]	Chr14:100309382..106855263 [GRCh38] Chr14:100775719..107263478 [GRCh37] Chr14:99845472..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	copy number loss	See cases [RCV000050696]	Chr14:97938637..106855263 [GRCh38] Chr14:98404974..107263478 [GRCh37] Chr14:97474727..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101994084-106855405)x1	copy number loss	See cases [RCV000051578]	Chr14:101994084..106855405 [GRCh38] Chr14:102460421..107263620 [GRCh37] Chr14:101530174..106334665 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:103784758-106870558)x1	copy number loss	See cases [RCV000051581]	Chr14:103784758..106870558 [GRCh38] Chr14:104251095..107278770 [GRCh37] Chr14:103320848..106349815 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100590353-106855264)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051553]\|See cases [RCV000051553]	Chr14:100590353..106855264 [GRCh38] Chr14:101056690..107263479 [GRCh37] Chr14:100126443..106334524 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100808300-106855263)x1	copy number loss	See cases [RCV000051113]	Chr14:100808300..106855263 [GRCh38] Chr14:101274637..107263478 [GRCh37] Chr14:100344390..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3	copy number gain	See cases [RCV000052294]	Chr14:83912345..106855405 [GRCh38] Chr14:84378689..107263620 [GRCh37] Chr14:83448442..106334665 [NCBI36] Chr14:14q31.2-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:94628219-106451054)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052298]\|See cases [RCV000052298]	Chr14:94628219..106451054 [GRCh38] Chr14:95094556..106906960 [GRCh37] Chr14:94164309..105978005 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	copy number gain	See cases [RCV000052295]	Chr14:86094030..106832642 [GRCh38] Chr14:86560374..107240869 [GRCh37] Chr14:85630127..106311914 [NCBI36] Chr14:14q31.3-32.33	pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	copy number gain	See cases [RCV000052296]	Chr14:91455861..106832642 [GRCh38] Chr14:91922205..107240869 [GRCh37] Chr14:90991958..106311914 [NCBI36] Chr14:14q32.12-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	copy number loss	See cases [RCV000133831]	Chr14:99831655..106855263 [GRCh38] Chr14:100297992..107263478 [GRCh37] Chr14:99367745..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	copy number gain	See cases [RCV000134000]	Chr14:73655772..106879298 [GRCh38] Chr14:74122475..107287505 [GRCh37] Chr14:73192228..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100309382-105987610)x3	copy number gain	See cases [RCV000135410]	Chr14:100309382..105987610 [GRCh38] Chr14:100775719..106453697 [GRCh37] Chr14:99845472..105524742 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104953508-106873666)x1	copy number loss	See cases [RCV000135387]	Chr14:104953508..106873666 [GRCh38] Chr14:105419845..107281875 [GRCh37] Chr14:104490890..106352920 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	copy number gain	See cases [RCV000135400]	Chr14:97638520..106855263 [GRCh38] Chr14:98104857..107263478 [GRCh37] Chr14:97174610..106334523 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	copy number gain	See cases [RCV000135875]	Chr14:99448012..106850609 [GRCh38] Chr14:99914349..107258824 [GRCh37] Chr14:98984102..106329869 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104622881-106678844)x1	copy number loss	See cases [RCV000135781]	Chr14:104622881..106678844 [GRCh38] Chr14:105017236..107134861 [GRCh37] Chr14:104088281..106205906 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	copy number gain	See cases [RCV000135543]	Chr14:20151149..106855263 [GRCh38] Chr14:20619308..107263478 [GRCh37] Chr14:19689148..106334523 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	copy number loss	See cases [RCV000136032]	Chr14:95524407..106879501 [GRCh38] Chr14:95990744..107287708 [GRCh37] Chr14:95060497..106358753 [NCBI36] Chr14:14q32.13-32.33	pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	copy number gain	See cases [RCV000138230]	Chr14:77222795..106879298 [GRCh38] Chr14:77689138..107287505 [GRCh37] Chr14:76758891..106358550 [NCBI36] Chr14:14q24.3-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104872858-105605042)x3	copy number gain	See cases [RCV000139617]	Chr14:104872858..105605042 [GRCh38] Chr14:105339195..105803170 [GRCh37] Chr14:104410240..105239471 [NCBI36] Chr14:14q32.33	uncertain significance
GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)x1	copy number loss	See cases [RCV000139633]	Chr14:101925670..106876323 [GRCh38] Chr14:102392007..107284531 [GRCh37] Chr14:101461760..106355576 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102239422-106877229)x1	copy number loss	See cases [RCV000141932]	Chr14:102239422..106877229 [GRCh38] Chr14:102705759..107285437 [GRCh37] Chr14:101775512..106356482 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:101665602-106855263)x1	copy number loss	See cases [RCV000142453]	Chr14:101665602..106855263 [GRCh38] Chr14:102131939..107263478 [GRCh37] Chr14:101201692..106334523 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:104051258-106877229)x1	copy number loss	See cases [RCV000142333]	Chr14:104051258..106877229 [GRCh38] Chr14:104517595..107285437 [GRCh37] Chr14:103587348..106356482 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.33(chr14:103823600-106879298)x1	copy number loss	See cases [RCV000142803]	Chr14:103823600..106879298 [GRCh38] Chr14:104289937..107287505 [GRCh37] Chr14:103359690..106358550 [NCBI36] Chr14:14q32.33	pathogenic
GRCh38/hg38 14q32.32-32.33(chr14:103322414-106855263)x3	copy number gain	See cases [RCV000142593]	Chr14:103322414..106855263 [GRCh38] Chr14:103788751..107263478 [GRCh37] Chr14:102858504..106334523 [NCBI36] Chr14:14q32.32-32.33	pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	copy number gain	See cases [RCV000143373]	Chr14:20043514..106877229 [GRCh38] Chr14:20511673..107285437 [GRCh37] Chr14:19581513..106356482 [NCBI36] Chr14:14q11.2-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102605096-106879298)x1	copy number loss	See cases [RCV000143154]	Chr14:102605096..106879298 [GRCh38] Chr14:103071433..107287505 [GRCh37] Chr14:102141186..106358550 [NCBI36] Chr14:14q32.31-32.33	pathogenic
GRCh38/hg38 14q32.2-32.33(chr14:100582059-106877229)x1	copy number loss	See cases [RCV000143662]	Chr14:100582059..106877229 [GRCh38] Chr14:101048396..107285437 [GRCh37] Chr14:100118149..106356482 [NCBI36] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105393054-105996538)x1	copy number loss	See cases [RCV000239801]	Chr14:105393054..105996538 [GRCh37] Chr14:14q32.33	uncertain significance
chr14:104643721..105932775 complex variant	complex	Breast ductal adenocarcinoma [RCV000207189]	Chr14:104643721..105932775 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:105259639-105523673)x1	copy number loss	See cases [RCV000240549]	Chr14:105259639..105523673 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.2-32.33(chr14:100575917-107281934)	copy number gain	not provided [RCV000767752]	Chr14:100575917..107281934 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103711336-107285437)x1	copy number loss	See cases [RCV000446081]	Chr14:103711336..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:98051841-107285437)x3	copy number gain	See cases [RCV000446497]	Chr14:98051841..107285437 [GRCh37] Chr14:14q32.2-32.33	likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	copy number gain	See cases [RCV000446256]	Chr14:19794561..107234280 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3	copy number gain	See cases [RCV000448557]	Chr14:62493932..107285437 [GRCh37] Chr14:14q23.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	copy number loss	See cases [RCV000510629]	Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	copy number gain	See cases [RCV000512041]	Chr14:20511673..107285437 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103965059-107285437)x1	copy number loss	See cases [RCV000511801]	Chr14:103965059..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:104915608-107285437)x1	copy number loss	See cases [RCV000511076]	Chr14:104915608..107285437 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:100661319-107285437)x1	copy number loss	See cases [RCV000511171]	Chr14:100661319..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102670706-107285437)x1	copy number loss	See cases [RCV000511173]	Chr14:102670706..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	copy number gain	See cases [RCV000512497]	Chr14:73750741..107285437 [GRCh37] Chr14:14q24.2-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102191861-106019451)x3	copy number gain	not provided [RCV000683623]	Chr14:102191861..106019451 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3	copy number gain	not provided [RCV000738412]	Chr14:19000422..107289053 [GRCh37] Chr14:14q11.1-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3	copy number gain	not provided [RCV000738413]	Chr14:19280733..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3	copy number gain	not provided [RCV000738414]	Chr14:19327823..107287663 [GRCh37] Chr14:14q11.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105080065-106067618)x1	copy number loss	not provided [RCV000738611]	Chr14:105080065..106067618 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.33(chr14:105371862-105576694)x3	copy number gain	not provided [RCV000751144]	Chr14:105371862..105576694 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.33(chr14:105436222-107287663)x3	copy number gain	not provided [RCV000751145]	Chr14:105436222..107287663 [GRCh37] Chr14:14q32.33	benign
GRCh37/hg19 14q32.31-32.33(chr14:101627916-107147698)x1	copy number loss	not provided [RCV000848417]	Chr14:101627916..107147698 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102931119-107285437)x1	copy number loss	not provided [RCV000847188]	Chr14:102931119..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103804791-105677579)	copy number loss	not provided [RCV000767716]	Chr14:103804791..105677579 [GRCh37] Chr14:14q32.32-32.33	likely pathogenic
GRCh37/hg19 14q32.33(chr14:105067651-107285437)x1	copy number loss	not provided [RCV000848291]	Chr14:105067651..107285437 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	copy number gain	not provided [RCV000848687]	Chr14:91969028..107285437 [GRCh37] Chr14:14q32.12-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:103153637-107285437)x1	copy number loss	not provided [RCV001006656]	Chr14:103153637..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:104764078-107285437)x1	copy number loss	not provided [RCV001006659]	Chr14:104764078..107285437 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	copy number gain	not provided [RCV000849272]	Chr14:99794230..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
NC_000014.8:g.(?_105452081)_(105644072_?)del	deletion	not provided [RCV003107610]	Chr14:105452081..105644072 [GRCh37] Chr14:14q32.33	uncertain significance
NC_000014.8:g.(?_102228231)_(105861009_?)dup	duplication	Charcot-Marie-Tooth disease axonal type 2O [RCV003107389]	Chr14:102228231..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
GRCh37/hg19 14q32.33(chr14:105303584-107285437)x1	copy number loss	not provided [RCV001006660]	Chr14:105303584..107285437 [GRCh37] Chr14:14q32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	copy number loss	See cases [RCV001195078]	Chr14:96829290..107287663 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105204147-105543486)x3	copy number gain	not provided [RCV001259802]	Chr14:105204147..105543486 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:102615953-107285437)x1	copy number loss	not provided [RCV001259801]	Chr14:102615953..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NC_000014.8:g.(?_102442029)_(105861009_?)del	deletion	Charcot-Marie-Tooth disease axonal type 2O [RCV003107388]	Chr14:102442029..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NC_000014.8:g.(?_103336539)_(105861009_?)dup	duplication	not provided [RCV002239722]	Chr14:103336539..105861009 [GRCh37] Chr14:14q32.32-32.33	uncertain significance
GRCh37/hg19 14q32.31-32.33(chr14:101732158-107285437)	copy number loss	not specified [RCV002052456]	Chr14:101732158..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)x1	copy number loss	not provided [RCV001829204]	Chr14:101593860..106160500 [GRCh37] Chr14:14q32.31-32.33	pathogenic
NC_000014.8:g.(?_103148212)_(105861009_?)del	deletion	not provided [RCV002000609]	Chr14:103148212..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NC_000014.8:g.(?_102229222)_(105861009_?)dup	duplication	not provided [RCV003120748]	Chr14:102229222..105861009 [GRCh37] Chr14:14q32.31-32.33	uncertain significance
NC_000014.8:g.(?_105167703)_(105861009_?)del	deletion	Focal segmental glomerulosclerosis 5 [RCV003111501]	Chr14:105167703..105861009 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	copy number gain	See cases [RCV002286356]	Chr14:37671058..106985955 [GRCh37] Chr14:14q13.3-32.33	pathogenic
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	copy number gain	not provided [RCV002472581]	Chr14:84537502..107285437 [GRCh37] Chr14:14q31.2-32.33	pathogenic
GRCh37/hg19 14q32.32-32.33(chr14:103636647-107285437)x1	copy number loss	not provided [RCV003323337]	Chr14:103636647..107285437 [GRCh37] Chr14:14q32.32-32.33	pathogenic
GRCh38/hg38 14q32.31-32.33(chr14:102263440-106874929)x1	copy number loss	Neurodevelopmental disorder [RCV003327606]	Chr14:102263440..106874929 [GRCh38] Chr14:14q32.31-32.33	pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	copy number gain	not provided [RCV003485051]	Chr14:88580184..107285437 [GRCh37] Chr14:14q31.3-32.33	pathogenic
GRCh37/hg19 14q32.2-32.33(chr14:101024609-107285437)x1	copy number loss	not provided [RCV003483217]	Chr14:101024609..107285437 [GRCh37] Chr14:14q32.2-32.33	pathogenic
GRCh37/hg19 14q32.33(chr14:105122914-107285437)x3	copy number gain	not provided [RCV003485055]	Chr14:105122914..107285437 [GRCh37] Chr14:14q32.33	uncertain significance
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	copy number gain	not provided [RCV003485036]	Chr14:58894502..107227240 [GRCh37] Chr14:14q23.1-32.33	pathogenic
GRCh37/hg19 14q32.31-32.33(chr14:102098959-107285437)x1	copy number loss	not specified [RCV003987056]	Chr14:102098959..107285437 [GRCh37] Chr14:14q32.31-32.33	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3196
Count of miRNA genes:	808
Interacting mature miRNAs:	971
Transcripts:	ENST00000389964, ENST00000547315, ENST00000548178, ENST00000548641, ENST00000549240, ENST00000549584, ENST00000550614, ENST00000551046, ENST00000551606
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

A009C47

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	105,460,588 - 105,460,820	UniSTS	GRCh37
Build 36	14	104,531,633 - 104,531,865	RGD	NCBI36
Celera	14	85,514,801 - 85,515,033	RGD
Cytogenetic Map	14	q32.33	UniSTS
HuRef	14	85,654,426 - 85,654,658	UniSTS
GeneMap99-GB4 RH Map	14	277.83	UniSTS
NCBI RH Map	14	1117.3	UniSTS

RH91739

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	105,461,631 - 105,461,805	UniSTS	GRCh37
Build 36	14	104,532,676 - 104,532,850	RGD	NCBI36
Celera	14	85,515,844 - 85,516,018	RGD
Cytogenetic Map	14	q32.33	UniSTS
HuRef	14	85,655,469 - 85,655,643	UniSTS
GeneMap99-GB4 RH Map	14	277.83	UniSTS

D14S683E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	105,461,630 - 105,461,710	UniSTS	GRCh37
Build 36	14	104,532,675 - 104,532,755	RGD	NCBI36
Celera	14	85,515,843 - 85,515,923	RGD
Cytogenetic Map	14	q32.33	UniSTS
HuRef	14	85,655,468 - 85,655,548	UniSTS

G32433

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	14	105,460,588 - 105,460,820	UniSTS	GRCh37
Celera	14	85,514,801 - 85,515,033	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
HuRef	14	85,654,426 - 85,654,658	UniSTS

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

971

422

121

744

830

Low

2393

2343

755

599

1343

447

4073

1878

3308

298

715

783

164

1203

2522

Below cutoff

647

603

220

300

220

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001364170	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_174891	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005267318	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054375346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF038188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057249	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL512802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003539	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC025175	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137495	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC144671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000389964 ⟹ ENSP00000374614

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,986,279 - 104,995,514 (+)	Ensembl

RefSeq Acc Id:

ENST00000547315 ⟹ ENSP00000450114

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,985,788 - 104,995,516 (+)	Ensembl

RefSeq Acc Id:

ENST00000548178

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,991,522 - 105,010,482 (+)	Ensembl

RefSeq Acc Id:

ENST00000548641 ⟹ ENSP00000447892

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,986,336 - 104,995,344 (+)	Ensembl

RefSeq Acc Id:

ENST00000549240 ⟹ ENSP00000450135

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,989,840 - 104,995,202 (+)	Ensembl

RefSeq Acc Id:

ENST00000549584

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,986,696 - 104,999,527 (+)	Ensembl

RefSeq Acc Id:

ENST00000550614 ⟹ ENSP00000448642

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,988,964 - 104,995,518 (+)	Ensembl

RefSeq Acc Id:

ENST00000551046

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,985,789 - 104,989,712 (+)	Ensembl

RefSeq Acc Id:

ENST00000551606 ⟹ ENSP00000447512

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	14	104,985,775 - 104,994,890 (+)	Ensembl

RefSeq Acc Id:

NM_001364170 ⟹ NP_001351099

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,986,279 - 104,994,591 (+)	NCBI
T2T-CHM13v2.0	14	99,230,757 - 99,239,067 (+)	NCBI

Sequence:

show sequence

GTCAGCCACTGGGCAGCCCGGGGCACTCCTGCAGCGTCCCCTGGCCCTCTCCAGGGCAGGGGAA
GGTTGGGCAGTCCTGGGCGGCCAGCACCCCGGCGTGCATGTCTCCTGAGCAGCTGCCCATCGGG
CCTCTGCTGGCCTGGGGGCTCCAAGATGCAAGGCCGGCGGGAGCTGGGGGGAGAGCCTTTGAGT
GACCTCCAGGAGGAAGCAGCCAGCGCTTCCCTCCGAGTGGCACCTGAGAGGCTGAGTGATGACA
GTTTGGAATGGAGACGGACCTGCCCCGACCTTCTCCTGTCCGATGGGAAAGCCAGCATCTCCAT
GCCCCGTGAGGGCGGTTCCACCTGCACTGCCCGATGTCCTGACCCTGGGGAACACAGCAGCACT
TGGGGGGAGTTTGAAGGCTTTCGGGAATCTTCAGCCAAGTCTGGACAATTCTCACAGTCCCTTG
AACTCCTCGAGGGACCCACAGAACCCCAGCCACCGAGAACCACTTCTGCCCCAAAAGAGTGCAG
TTCTCACCAACCATGCCAGGGTGGACCTTGGGTGACAGGAACTTCTGCCGTCCCACCTTCTGAG
CCCATTCTCAGCTATGAGAACATTTTAAAGTGTGCTTTTCAAGAAATAACAGTCCAGCAGGCAG
CTGAAGACGTTTCCACCATAGACCATTTCCTAGAAATAAGCAGTGAAGAAAAACCTGGCGTTGA
ACGTGTACATAAATTGTGTAACGAATCCAGAAAACTCTGGAGAGCCCTTCAGAGCATACACACC
ACGTCTACTTCTCAGCGCCTCTGGAGCGAGTCCCGTTGCCAGGAGAACTTCTTTCTTGTTCTCG
GAATAGATGCTGCGCAGAAGAACCTTTCTGGAGGCCAGGGCCACATCATGGAAGATTGTGACCT
CAAAGAGCCTGAAGGACTCCTCACTGTCAGCAGCTTCTGTCTCCAGCATTGCAAAGCCCTGATC
CAGACCAAGGGCAGACAGGCAAATTGTGAACACCACTGCAGGGTGCCAAGGAATATAAATACCA
TCCGGAAAGACTCTCAGGCCAGAGGACCCAGGATATGGGTGGGTCACGCAGGAGAAGCCAGGGA
GAGAAGAGAGCTGCAGGGAAGCTGAGACGCCAGGTGTGGATGACGAGGCTGGAAGGATGAGGCA
GGACCAGGCTGTGACTGTTGGGCCAGGGGATGTTGACTCCGCCTGGGCAGCTGTCGTGAACGGA
TCTGACTGGCGGCTTCAGTCACGGGCCGCTTACCCTACACAGGGTCTGCCCACAGCTTTTCTCT
CATGAGCCGCGGTTCTTGCCACAGAGTCACTTCATCACATCATCACAGCCGGGCTCAAGGCAGA
AGAGGAGATGGGCAGAGAAGGGGACTTCTTCTTGCAGCTCTCTCTTTTATCAGGGGGAAGAAAA
GCTTTTCTGGGCTGGAGTCTGGAGCCCACCCTCAGACCAAGTATTGCAGGAGGGGTGAGATGGC
CAGGCCTAGCTCACCTGGTTTCCTGCTCACCCTGGAGACCCAGGACCTTGGAACAGTCGGGGCT
CATTGTGTACACCCAGGAGATGGTGGGAGGGGCGCATGGGCGGCTGTGAGCATGAAGAGTGACA
TGCAGGGAGGCGCAGGGGTAAAGTACTGCCCTGTGGCCTGGTAGGAGGTAACAAGGACCTGAGA
CTGAGCTGGGACAGCAGGAAGGTTGCATAGCACAGGAGGCAGCCAGGGTCAGCTTCTGGGCAAG
AATTAGGCATGAATGTGGCACTGCCCCCAGCTGACATGGGGTGGGTTCCCTGGATGATCAGCAC
ACAGGTGACAGGCGACAGGTGCCATGGGGCAACAGGAGAGGGCCCTGATCGGCCGTCTTCACAG
GCTGTCCATCTTTTTGAAAAGCACCATAGCACAGGAGGGTTATCCTAGAGCAGCAGCTGTAAAG
AAATGTTCGTGGCTGTGTTGTTCACAGCAGCCGGTGGGGGAGACGTCCAGCCGCAGCTGTTTGG
GGGAAGTCTGTGGTGTAGTCCAAGAGTGGCTACTGGAGGGCTGTGAGTGTGCAGGGTAGTGGCA
GCCTCCACCAGGGAGTGCCAGACACGTAGCACAAGGGCCAGAGACCCCGCCTAAGATGTGGGCC
CACTGCTGTCTTCGGGGCTGGCTGCAGGCCAGAGCCACAGACTGCACCATGAGGAAGCCCCAGC
ATGTTTTCCCTGGGCGCCTCTCTGGTGACATCCCATGATGAGAAGGTTTCTAAGAGGAGAACCA
AGGAGAGAACACTAGGGGGCCGAGAGGCAGGGGGCGGCCAGGGGCAAACGCCCAAGCTAGCGCT
TCTCATTGCCCGGGGTGCGCGCGCCTGACTGCTGTCCTCTCA

hide sequence

RefSeq Acc Id:

NM_174891 ⟹ NP_777551

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,985,788 - 104,995,516 (+)	NCBI
GRCh37	14	105,452,125 - 105,466,056 (+)	NCBI
Build 36	14	104,523,661 - 104,532,900 (+)	NCBI Archive
Celera	14	85,506,829 - 85,516,068 (+)	RGD
HuRef	14	85,646,461 - 85,655,693 (+)	RGD
CHM1_1	14	105,390,377 - 105,399,616 (+)	NCBI
T2T-CHM13v2.0	14	99,230,266 - 99,239,992 (+)	NCBI

Sequence:

show sequence

AGGCAACGGGGCGGCGCAGGCAGGAGGGAACGGCTGGTTGCAGGTTTCTCTCGCCCTGGTCCCG
CGCGGCCCCGCCGAGGCGGCGACCAAGGTGGGTGCGGGGACTCTCGGGAGCCGTGGGCCAGGCG
CTTAGCCGGCCACCTCGGGCCCTGTCCAGGCCCAGGCGTTCCAGGGCTGCTCTGCGGGCCGCGT
GCGAGAGGGACTCTCGGGAGGCCCCGGGGCGCCGCACCCACTCCTTCCCACTTGGGACTCCCGC
GGGCGCCCGGCTCTCGCTCCTCTGGCCAGCGTGGGCCTCCCAGGCCCCCTCGCGGCTCTCTCCA
GAGCAGGAGCCCCACCTTGGGCCGCCCCTCTCACACCTGCCGTGGGTCTGGTACGCGCCTCTGT
GTCGGACTCCGCGCCCGCCTGCGTGGGAGGAAGCCAGGACTCCCGGGCGACCGGGCCATTCCTG
TGGTTTGTGTCAGTTCCACAGCAGCACGTGGGCACTTTCCACCGTCAGCCACTGGGCAGCCCGG
GGCACTCCTGCAGCGTCCCCTGGCCCTCTCCAGGGCAGGGGAAGGTTGGGCAGTCCTGGGCGGC
CAGCACCCCGGCGTGCATGTCTCCTGAGCAGCTGCCCATCGGGCCTCTGCTGGCCTGGGGGCTC
CAAGATGCAAGGCCGGCGGGAGCTGGGGGGAGAGCCTTTGAGTGACCTCCAGGAGGAAGCAGCC
AGCGCTTCCCTCCGAGTGGCACCTGAGAGGCTGAGTGATGACAGTTTGGAATGGAGACGGACCT
GCCCCGACCTTCTCCTGTCCGATGGGAAAGCCAGCATCTCCATGCCCCGTGAGGGCGGTTCCAC
CTGCACTGCCCGATGTCCTGACCCTGGGGAACACAGCAGCACTTGGGGGGAGTTTGAAGGCTTT
CGGGAATCTTCAGCCAAGTCTGGACAATTCTCACAGTCCCTTGAACTCCTCGAGGGACCCACAG
AACCCCAGCCACCGAGAACCACTTCTGCCCCAAAAGAGTGCAGTTCTCACCAACCATGCCAGGG
TGGACCTTGGGTGACAGGAACTTCTGCCGTCCCACCTTCTGAGCCCATTCTCAGCTATGAGAAC
ATTTTAAAGTGTGCTTTTCAAGAAATAACAGTCCAGCAGGCAGCTGAAGACGTTTCCACCATAG
ACCATTTCCTAGAAATAAGCAGTGAAGAAAAACCTGGCGTTGAACGTGTACATAAATTGTGTAA
CGAATCCAGAAAACTCTGGAGAGCCCTTCAGAGCATACACACCACGTCTACTTCTCAGCGCCTC
TGGAGCGAGTCCCGTTGCCAGGAGAACTTCTTTCTTGTTCTCGGAATAGATGCTGCGCAGAAGA
ACCTTTCTGGAGGCCAGGGCCACATCATGGAAGATTGTGACCTCAAAGAGCCTGAAGGACTCCT
CACTGTCAGCAGCTTCTGTCTCCAGCATTGCAAAGCCCTGATCCAGACCAAGCTCTCGGGGCCG
CCTGGCAGCAAACAGGGGAGGCTGATGACATGCAGCCGCTTCCTGAAGACCCCCTCATGCGGAG
GTGGCCAGCACATCACTATTCCAAGGAAAAGGATGTTCACTCCACGCAAGCTCAAACTGACACT
CTTTAATAGCGACGTTTGCTAAAATCAGGAGGACTTTGTACCTTTATGAGGAATTTTTCATTTT
CTTCCTGGCTGGGTTGATGTGGAAACCAGAGCTGTCTGTGGAGCTGTTTTCCAGACCCCAGGCC
CATTCCTGGGATCTCTCCAACAGGACCTGTCCTGTGTTCTGGGCTTGTCTCGGGTCTGACCAGG
AGATGGAGGATGTGTCCTTGGCAGAGCCAAGGGGAGACAGAGGTTTCTGGATGCCATGACAGGC
TGTCGGGGTCCAGGTGGCACTCATGGGCCCCCTGCCCCATGTGAATGCTGCTGGCACCTGGTGG
GGGGTTGCCCAGGGATGGACCCTGGGCATGGCTTCTGGGCTGCTTAGTCCAGGGGGAGCAACTT
GTGGCCAAATCCATGAGTTCAGAGGAAAAGGGGAAGGCACTGAAACGTCACCAGAGAGACAGCT
GTTGAGACCGCTCAGAAACCCTCTGTCTGTCACACTCTGCCCTGGCTGCTGTGTGGTCAGGGCA
CCATGAGGGTGTACAGATGTGCTGTGTCCTCAGAGCCTCGCAGGTGCCCTCACTTACTGCCTGG
GCCCCTGCCCAGCAGCCTCAAGGACAGGCCTTTGTCCCTCACGGTTGTGGACAGGAGGTCGCAC
CACTGGCCTGCGAGAGCCTCTGGTGGGCCCGTGGCTTCCCCCAGTTATCTGCTAAGGAAAACTG
TGCTCTTCGAAGGGCAGAGCCAAGAAGTCAGCCCTGACTTTTGTAAAATTTTACTAAATAAAAC
CACCTGGATAA

hide sequence

RefSeq Acc Id:

XM_005267318 ⟹ XP_005267375

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,985,788 - 105,001,274 (+)	NCBI
GRCh37	14	105,452,125 - 105,466,056 (+)	NCBI

Sequence:

show sequence

GTCAGCCACTGGGCAGCCCGGGGCACTCCTGCAGCGTCCCCTGGCCCTCTCCAGGGCAGGGGAA
GGTTGGGCAGTCCTGGGCGGCCAGCACCCCGGCGTGCATGTCTCCTGAGCAGCTGCCCATCGGG
CCTCTGCTGGCCTGGGGGCTCCAAGATGCAAGGCCGGCGGGAGCTGGGGGGAGAGCCTTTGAGT
GACCTCCAGGAGGAAGCAGCCAGCGCTTCCCTCCGAGTGGCACCTGAGAGGCTGAGTGATGACA
GTTTGGAATGGAGACGGACCTGCCCCGACCTTCTCCTGTCCGATGGGAAAGCCAGCATCTCCAT
GCCCCGTGAGGGCGGTTCCACCTGCACTGCCCGATGTCCTGACCCTGGGGAACACAGCAGCACT
TGGGGGGAGTTTGAAGGCTTTCGGGAATCTTCAGCCAAGTCTGGACAATTCTCACAGTCCCTTG
AACTCCTCGAGGGACCCACAGAACCCCAGCCACCGAGAACCACTTCTGCCCCAAAAGAGTGCAG
TTCTCACCAACCATGCCAGGGTGGACCTTGGGTGACAGGAACTTCTGCCGTCCCACCTTCTGAG
CCCATTCTCAGCTATGAGAACATTTTAAAGTGTGCTTTTCAAGAAATAACAGTCCAGCAGGCAG
CTGAAGACGTTTCCACCATAGACCATTTCCTAGAAATAAGCAGTGAAGAAAAACCTGGCGTTGA
ACGTGTACATAAATTGTGTAACGAATCCAGAAAACTCTGGAGAGCCCTTCAGAGCATACACACC
ACGTCTACTTCTCAGCGCCTCTGGAGCGAGTCCCGTTGCCAGGAGAACTTCTTTCTTGTTCTCG
GAATAGATGCTGCGCAGAAGAACCTTTCTGGAGGCCAGGGCCACATCATGGAAGATTGTGACCT
CAAAGAGCCTGAAGGACTCCTCACTGTCAGCAGCTTCTGTCTCCAGCATTGCAAAGCCCTGATC
CAGACCAAGAGGCCCTGAAGGAACGTGACCATCACCTGACCTGAGTGACACTGCAAAGCCCTCA
TTCTTTCTAGTGGACGTGGAGCTCTCTCCAAGCAGATAACTGAGCCGTCAGCCACATCAGAGGC
CAGGGACATGGCCTTCAGAGGCTTTGGCCATCATGCAAAAAACCTGGCCACCCTGAAGCCTCTA
TGCTGGAGAAATGTCTGCAGTGATCCCACAGAGATGCTGACAAGATGCCCAAGGACCCAGCTGC
TGGAGCTTTCCGGCCAGCATGCCAGCCCTGGGAGGAGGGAAGCCTTCAGGGTGGGGTGCATCCA
GCTGCAGCTGCTGCCTGACAGCAGTGGCCTGACAGATCCCAGCAAGAACCACCCGGCTGAGCCC
AGCCAAGCCGTGGCATGAGATCATGGCAGTAACAGATGGTAGGTGCTGCATGCTGTGAAGCTAG
TGATGGCAGCTACACAGCAGGAGGTCATGAAAACAACACATGTCCAGATAACCAGTGGGTCCAT
AGAGGTCACTGGAAACTTAGTAATTGAAACTGAATAATGAAAATGGCACTGATCAAAATCTGAG
TGAATGCAGTGCATAGAAGGAAATTTATAGCTTTAAATGTTTATATTAGAAAGTAAGAAAAGTA
CAAAACCACCTAAGATTTCATGTTAATGTGCAAGAAAAAGAGCAAATTAAACCAAAAGTAAGCA
GAAAGAAGGAAATAAAACTGAGTGCCAAAATCAACAAAATGGAAAATGGCAGAACACTAGGAAA
AAGGGATGGTCCTAAGTGAAGACGTAAGAGCATGTGATGTGCAGCTCTCGCATGACTCCTGATT
CAAACAAACCAAATGTAGAGACAACTTCGAATAACACACAGCGAGGAAAAGCAGGCAGCCTCTG
CCCAACACAGCCAGGAGACAGCCTCGGAAATCGGAGAAAATATTTGGAAACCATATGTCTGATA
AGGGGTTAATATCCAAAATACATAAGGAACTCAAACAACGTAACAGGAAGAAAACCCAGATAAC
CTGATTGAAAAAATAGGAAAAGGACCTGAACAGACATTTTTTCTTTCTTTCTTTCTTTTTTTTT
TTTGCTGTGTC

hide sequence

RefSeq Acc Id:

XM_054375346 ⟹ XP_054231321

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	14	99,230,266 - 99,245,748 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001351099	(Get FASTA)	NCBI Sequence Viewer
	NP_777551	(Get FASTA)	NCBI Sequence Viewer
	XP_005267375	(Get FASTA)	NCBI Sequence Viewer
	XP_054231321	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH03539	(Get FASTA)	NCBI Sequence Viewer
	AAI37496	(Get FASTA)	NCBI Sequence Viewer
	EAW81890	(Get FASTA)	NCBI Sequence Viewer
	EAW81891	(Get FASTA)	NCBI Sequence Viewer
	EAW81892	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000374614.3
	ENSP00000447512.1
	ENSP00000447892.1
	ENSP00000448642.1
	ENSP00000450114
	ENSP00000450114.1
	ENSP00000450135.1
GenBank Protein	Q96F83	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_777551 ⟸ NM_174891
- Peptide Label:	isoform 1
- UniProtKB:	B2RPK9 (UniProtKB/Swiss-Prot), Q9BTP4 (UniProtKB/Swiss-Prot), Q96F83 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MQGRRELGGEPLSDLQEEAASASLRVAPERLSDDSLEWRRTCPDLLLSDGKASISMPREGGSTC TARCPDPGEHSSTWGEFEGFRESSAKSGQFSQSLELLEGPTEPQPPRTTSAPKECSSHQPCQGG PWVTGTSAVPPSEPILSYENILKCAFQEITVQQAAEDVSTIDHFLEISSEEKPGVERVHKLCNE SRKLWRALQSIHTTSTSQRLWSESRCQENFFLVLGIDAAQKNLSGGQGHIMEDCDLKEPEGLLT VSSFCLQHCKALIQTKLSGPPGSKQGRLMTCSRFLKTPSCGGGQHITIPRKRMFTPRKLKLTLF NSDVC hide sequence

RefSeq Acc Id:

XP_005267375 ⟸ XM_005267318

- Peptide Label:

isoform X1

- Sequence:

show sequence

MQGRRELGGEPLSDLQEEAASASLRVAPERLSDDSLEWRRTCPDLLLSDGKASISMPREGGSTC
TARCPDPGEHSSTWGEFEGFRESSAKSGQFSQSLELLEGPTEPQPPRTTSAPKECSSHQPCQGG
PWVTGTSAVPPSEPILSYENILKCAFQEITVQQAAEDVSTIDHFLEISSEEKPGVERVHKLCNE
SRKLWRALQSIHTTSTSQRLWSESRCQENFFLVLGIDAAQKNLSGGQGHIMEDCDLKEPEGLLT
VSSFCLQHCKALIQTKRP

hide sequence

RefSeq Acc Id:	NP_001351099 ⟸ NM_001364170
- Peptide Label:	isoform 2

RefSeq Acc Id:

ENSP00000374614 ⟸ ENST00000389964

RefSeq Acc Id:

ENSP00000450114 ⟸ ENST00000547315

RefSeq Acc Id:

ENSP00000447892 ⟸ ENST00000548641

RefSeq Acc Id:

ENSP00000450135 ⟸ ENST00000549240

RefSeq Acc Id:

ENSP00000448642 ⟸ ENST00000550614

RefSeq Acc Id:

ENSP00000447512 ⟸ ENST00000551606

RefSeq Acc Id:	XP_054231321 ⟸ XM_054375346
- Peptide Label:	isoform X1

Protein Domains

Aftiphilin clathrin-binding box

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96F83-F1-model_v2	AlphaFold	Q96F83	1-325	view protein structure

Promoters

RGD ID:

6791349

Promoter ID:

HG_KWN:20392

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_174891, UC001YPZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	14	104,522,821 - 104,523,321 (+)	MPROMDB

RGD ID:

7228773

Promoter ID:

EPDNEW_H20132

Type:

initiation region

Name:

C14orf79_1

Description:

chromosome 14 open reading frame 79

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H20133

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,985,792 - 104,985,852	EPDNEW

RGD ID:

7228775

Promoter ID:

EPDNEW_H20133

Type:

initiation region

Name:

C14orf79_2

Description:

chromosome 14 open reading frame 79

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H20132

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	14	104,986,390 - 104,986,450	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20126	AgrOrtholog
COSMIC	CLBA1	COSMIC
Ensembl Genes	ENSG00000140104	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000389964.7	UniProtKB/TrEMBL
	ENST00000547315	ENTREZGENE
	ENST00000547315.6	UniProtKB/Swiss-Prot
	ENST00000548641.5	UniProtKB/TrEMBL
	ENST00000549240.1	UniProtKB/TrEMBL
	ENST00000550614.5	UniProtKB/TrEMBL
	ENST00000551606.5	UniProtKB/TrEMBL
GTEx	ENSG00000140104	GTEx
HGNC ID	HGNC:20126	ENTREZGENE
Human Proteome Map	CLBA1	Human Proteome Map
InterPro	Aftin-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Clathrin-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:122616	UniProtKB/Swiss-Prot
NCBI Gene	122616	ENTREZGENE
PANTHER	CLATHRIN_BDG DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR16156	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Clathrin_bdg	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134876308	PharmGKB
UniProt	B2RPK9	ENTREZGENE
	CLBA1_HUMAN	UniProtKB/Swiss-Prot
	F8VUA8_HUMAN	UniProtKB/TrEMBL
	H0YHP6_HUMAN	UniProtKB/TrEMBL
	J3KPM0_HUMAN	UniProtKB/TrEMBL
	J3KRA4_HUMAN	UniProtKB/TrEMBL
	Q96F83	ENTREZGENE
	Q9BTP4	ENTREZGENE
UniProt Secondary	B2RPK9	UniProtKB/Swiss-Prot
	Q9BTP4	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-07-27	CLBA1	clathrin binding box of aftiphilin containing 1		clathrin binding box of aftiphilin containing	Symbol and/or name change	5135510	APPROVED
2017-07-04	CLBA1	clathrin binding box of aftiphilin containing	C14orf79	chromosome 14 open reading frame 79	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Send us a Message

Imported Disease Annotations - ClinVar